Mutagenetix > Incidental Mutation

Incidental Mutation 'R4915:Mapk8ip3'

380007

Institutional Source

Beutler Lab

Gene Symbol

Mapk8ip3

Ensembl Gene

ENSMUSG00000024163

Gene Name

mitogen-activated protein kinase 8 interacting protein 3

Synonyms

JSAP1c, JSAP1b, JNK-interacting protein 3, Jip3, D17Wsu15e, JSAP1, JSAP1d, Syd2, sunday driver 2, JSAP1a, JUN/SAPK-associated protein 1, c-Jun NH2-terminal kinase (JNK)/stress-activated protein kinase-associated protein 1

MMRRC Submission

042517-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.808) question?

Stock #

R4915 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

25116480-25155951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25128127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 377 (S377P)

Ref Sequence

ENSEMBL: ENSMUSP00000112955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088345] [ENSMUST00000115228] [ENSMUST00000115229] [ENSMUST00000117509] [ENSMUST00000119115] [ENSMUST00000120035] [ENSMUST00000121723] [ENSMUST00000146706] [ENSMUST00000146923] [ENSMUST00000121787] [ENSMUST00000178969]

AlphaFold

Q9ESN9

Predicted Effect

probably benign
Transcript: ENSMUST00000088345
AA Change: S409P

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000085683
Gene: ENSMUSG00000024163
AA Change: S409P

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	417	472	6e-20	PDB
coiled coil region	525	555	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
low complexity region	754	769	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
SCOP:d1flga_	987	1167	4e-8	SMART
Blast:WD40	1075	1116	6e-18	BLAST
low complexity region	1260	1276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115228
AA Change: S409P

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110883
Gene: ENSMUSG00000024163
AA Change: S409P

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	411	466	7e-20	PDB
low complexity region	567	581	N/A	INTRINSIC
low complexity region	739	754	N/A	INTRINSIC
low complexity region	878	886	N/A	INTRINSIC
low complexity region	913	925	N/A	INTRINSIC
SCOP:d1flga_	972	1152	3e-8	SMART
Blast:WD40	1060	1101	6e-18	BLAST
low complexity region	1245	1261	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115229

SMART Domains

Protein: ENSMUSP00000110884
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	184	2.9e-60	PFAM
low complexity region	244	257	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:JIP_LZII	423	493	3.1e-32	PFAM
coiled coil region	533	563	N/A	INTRINSIC
low complexity region	590	604	N/A	INTRINSIC
low complexity region	762	777	N/A	INTRINSIC
low complexity region	901	909	N/A	INTRINSIC
low complexity region	936	948	N/A	INTRINSIC
SCOP:d1flga_	995	1175	4e-8	SMART
Blast:WD40	1083	1124	7e-18	BLAST
low complexity region	1268	1284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117509
AA Change: S386P

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112712
Gene: ENSMUSG00000024163
AA Change: S386P

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	238	247	N/A	INTRINSIC
PDB:2W83\|D	394	449	7e-20	PDB
coiled coil region	502	532	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC
low complexity region	731	746	N/A	INTRINSIC
low complexity region	870	878	N/A	INTRINSIC
low complexity region	905	917	N/A	INTRINSIC
SCOP:d1flga_	964	1144	3e-8	SMART
Blast:WD40	1052	1093	6e-18	BLAST
low complexity region	1237	1253	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119115
AA Change: S377P

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112955
Gene: ENSMUSG00000024163
AA Change: S377P

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.3e-72	PFAM
low complexity region	229	238	N/A	INTRINSIC
PDB:2W83\|D	385	440	7e-20	PDB
coiled coil region	493	523	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	722	737	N/A	INTRINSIC
low complexity region	861	869	N/A	INTRINSIC
low complexity region	896	908	N/A	INTRINSIC
SCOP:d1flga_	955	1135	3e-8	SMART
Blast:WD40	1043	1084	5e-18	BLAST
low complexity region	1228	1244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120035
AA Change: S408P

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114084
Gene: ENSMUSG00000024163
AA Change: S408P

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	235	248	N/A	INTRINSIC
low complexity region	260	269	N/A	INTRINSIC
PDB:2W83\|D	416	471	6e-20	PDB
coiled coil region	524	554	N/A	INTRINSIC
low complexity region	581	595	N/A	INTRINSIC
low complexity region	753	768	N/A	INTRINSIC
low complexity region	892	900	N/A	INTRINSIC
low complexity region	927	939	N/A	INTRINSIC
SCOP:d1flga_	986	1166	3e-8	SMART
Blast:WD40	1074	1115	6e-18	BLAST
low complexity region	1259	1275	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121723
AA Change: S378P

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113698
Gene: ENSMUSG00000024163
AA Change: S378P

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1e-72	PFAM
low complexity region	230	239	N/A	INTRINSIC
PDB:2W83\|D	386	441	7e-20	PDB
coiled coil region	494	524	N/A	INTRINSIC
low complexity region	551	565	N/A	INTRINSIC
low complexity region	723	738	N/A	INTRINSIC
low complexity region	862	870	N/A	INTRINSIC
low complexity region	897	909	N/A	INTRINSIC
SCOP:d1flga_	956	1136	3e-8	SMART
Blast:WD40	1044	1085	5e-18	BLAST
low complexity region	1229	1245	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146706
AA Change: S203P

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118422
Gene: ENSMUSG00000024163
AA Change: S203P

Domain	Start	End	E-Value	Type
low complexity region	55	64	N/A	INTRINSIC
Pfam:JIP_LZII	203	235	1.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146923
AA Change: S409P

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114802
Gene: ENSMUSG00000024163
AA Change: S409P

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	417	472	6e-20	PDB
coiled coil region	525	555	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
low complexity region	754	769	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
SCOP:d1flga_	987	1167	4e-8	SMART
Blast:WD40	1075	1116	6e-18	BLAST
low complexity region	1260	1276	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144336

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121787
AA Change: S378P

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113753
Gene: ENSMUSG00000024163
AA Change: S378P

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	3.8e-73	PFAM
low complexity region	230	239	N/A	INTRINSIC
PDB:2W83\|D	380	435	8e-20	PDB
coiled coil region	488	518	N/A	INTRINSIC
low complexity region	545	559	N/A	INTRINSIC
low complexity region	717	732	N/A	INTRINSIC
low complexity region	856	864	N/A	INTRINSIC
low complexity region	891	903	N/A	INTRINSIC
SCOP:d1flga_	950	1130	3e-8	SMART
Blast:WD40	1038	1079	6e-18	BLAST
low complexity region	1223	1239	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152486

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132258

Predicted Effect

probably benign
Transcript: ENSMUST00000178969

SMART Domains

Protein: ENSMUSP00000136924
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.1e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	417	472	6e-20	PDB
coiled coil region	525	555	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
low complexity region	754	769	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
SCOP:d1flga_	987	1167	3e-8	SMART
Blast:WD40	1075	1116	6e-18	BLAST
low complexity region	1260	1276	N/A	INTRINSIC

Meta Mutation Damage Score

0.2392

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 87.9%

Validation Efficiency

98% (162/166)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in impaired lung morphogenesis, causes absence of the telencephalic commissure with multiple defects in brain development and axon guidance, may affect synaptic transmission, and invariably leads to neonatal death due to respiratory failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 135 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,236,420 (GRCm39)	A1257V	possibly damaging	Het
Aldh8a1	T	C	10: 21,271,662 (GRCm39)	S463P	probably damaging	Het
Angptl1	T	G	1: 156,672,388 (GRCm39)	D71E	probably benign	Het
Ank2	T	A	3: 126,736,320 (GRCm39)		probably benign	Het
Ano1	A	G	7: 144,165,112 (GRCm39)	S649P	possibly damaging	Het
Arhgef40	A	G	14: 52,227,556 (GRCm39)	E434G	probably damaging	Het
Asb15	A	T	6: 24,566,292 (GRCm39)	D415V	probably damaging	Het
Baz2b	T	A	2: 59,744,387 (GRCm39)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bmi1	G	A	2: 18,687,143 (GRCm39)		probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Brd9	A	G	13: 74,086,574 (GRCm39)	E25G	probably damaging	Het
Btbd7	A	T	12: 102,804,046 (GRCm39)	C331*	probably null	Het
Ccdc198	A	T	14: 49,470,351 (GRCm39)	N189K	probably benign	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cenpj	T	C	14: 56,791,175 (GRCm39)	D328G	probably damaging	Het
Cherp	T	C	8: 73,222,241 (GRCm39)	D255G	probably damaging	Het
Clec5a	T	A	6: 40,562,165 (GRCm39)		probably benign	Het
Cntnap2	T	C	6: 46,506,969 (GRCm39)		probably benign	Het
Col7a1	G	A	9: 108,795,532 (GRCm39)	G1529E	unknown	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2a22	C	A	7: 26,637,195 (GRCm39)	E196D	probably benign	Het
Cyp4f18	T	A	8: 72,762,898 (GRCm39)	H63L	probably damaging	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Ddx6	T	A	9: 44,524,170 (GRCm39)	D82E	probably damaging	Het
Defb42	A	G	14: 63,285,790 (GRCm39)	I57V	probably benign	Het
Dennd5a	A	G	7: 109,500,296 (GRCm39)	F943S	probably damaging	Het
Dip2c	T	A	13: 9,671,905 (GRCm39)		probably null	Het
Disp2	A	T	2: 118,620,935 (GRCm39)	S556C	probably damaging	Het
Dnah12	A	T	14: 26,455,725 (GRCm39)	D816V	probably damaging	Het
Dpy19l3	T	C	7: 35,452,167 (GRCm39)		probably benign	Het
Efcab11	T	C	12: 99,685,321 (GRCm39)	D151G	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Evl	G	T	12: 108,652,365 (GRCm39)	R359L	probably damaging	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxo3	T	G	2: 103,885,311 (GRCm39)	N388K	probably damaging	Het
Fbxw14	A	T	9: 109,103,592 (GRCm39)	F40Y	possibly damaging	Het
Fbxw22	A	G	9: 109,213,009 (GRCm39)	F313L	probably damaging	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Fry	A	T	5: 150,402,328 (GRCm39)	T790S	probably benign	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Gm13030	T	A	4: 138,601,239 (GRCm39)		probably benign	Het
Gm37150	C	T	9: 72,292,772 (GRCm39)		noncoding transcript	Het
Gm6788	C	T	19: 28,740,664 (GRCm39)		noncoding transcript	Het
Gm8122	T	C	14: 43,091,573 (GRCm39)	N65S	unknown	Het
Gnb4	C	T	3: 32,639,236 (GRCm39)		probably benign	Het
Gprin1	G	T	13: 54,885,886 (GRCm39)	P796Q	probably damaging	Het
Grin1	A	G	2: 25,188,565 (GRCm39)		probably benign	Het
Helz2	T	C	2: 180,874,231 (GRCm39)	R2088G	possibly damaging	Het
Hsd3b9	C	T	3: 98,357,845 (GRCm39)	V56M	probably damaging	Het
Ighv6-6	C	A	12: 114,398,595 (GRCm39)	R57L	probably damaging	Het
Inhca	A	C	9: 103,129,054 (GRCm39)	Y235*	probably null	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Iqgap3	T	A	3: 88,008,834 (GRCm39)	I643K	possibly damaging	Het
Itga11	C	A	9: 62,659,530 (GRCm39)	Y427*	probably null	Het
Kbtbd8	T	G	6: 95,103,515 (GRCm39)	M388R	possibly damaging	Het
Kif1a	T	A	1: 93,002,700 (GRCm39)	E233V	probably benign	Het
Krt10	T	C	11: 99,278,334 (GRCm39)	N275S	probably damaging	Het
Lrrc3	T	C	10: 77,737,253 (GRCm39)	D61G	probably benign	Het
Mccc1	A	G	3: 36,051,703 (GRCm39)	L32S	probably benign	Het
Meis1	T	C	11: 18,959,222 (GRCm39)		probably benign	Het
Mmp11	C	T	10: 75,761,419 (GRCm39)	A31T	probably damaging	Het
Mthfsl	A	C	9: 88,597,550 (GRCm39)	L67V	probably damaging	Het
Myo1c	T	G	11: 75,547,135 (GRCm39)	M1R	probably null	Het
N4bp2	T	A	5: 65,960,847 (GRCm39)	M506K	probably damaging	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Nid1	A	G	13: 13,674,171 (GRCm39)	E850G	possibly damaging	Het
Nlrp9c	T	C	7: 26,083,885 (GRCm39)	T565A	probably benign	Het
Nomo1	T	C	7: 45,693,656 (GRCm39)	F163L	probably benign	Het
Nsd1	T	C	13: 55,395,681 (GRCm39)	V1197A	possibly damaging	Het
Nsd1	A	G	13: 55,424,341 (GRCm39)	T1463A	probably benign	Het
Nsf	G	A	11: 103,801,185 (GRCm39)		probably benign	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or4k51	A	T	2: 111,584,725 (GRCm39)	I44F	probably benign	Het
Or5an1c	A	G	19: 12,218,737 (GRCm39)	V96A	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Or8k33	A	G	2: 86,384,399 (GRCm39)	L23P	probably damaging	Het
Or9g10	T	C	2: 85,584,465 (GRCm39)		probably benign	Het
Pcdha6	T	A	18: 37,101,510 (GRCm39)	D234E	probably damaging	Het
Pcnx1	C	A	12: 82,021,269 (GRCm39)	F1425L	probably benign	Het
Pdzd9	T	G	7: 120,269,391 (GRCm39)	N10T	possibly damaging	Het
Pex6	A	T	17: 47,024,982 (GRCm39)	H345L	probably damaging	Het
Pfkfb3	G	A	2: 11,495,109 (GRCm39)	Q100*	probably null	Het
Pgm2	G	A	5: 64,258,291 (GRCm39)	G92E	probably damaging	Het
Pip4k2c	T	C	10: 127,035,196 (GRCm39)	T391A	possibly damaging	Het
Plcxd2	C	T	16: 45,800,941 (GRCm39)	W94*	probably null	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Prkcg	T	G	7: 3,378,781 (GRCm39)	Y624*	probably null	Het
Rabep2	T	C	7: 126,044,094 (GRCm39)	S517P	probably damaging	Het
Rabgap1l	A	G	1: 160,269,412 (GRCm39)	I717T	probably benign	Het
Rasef	A	G	4: 73,649,696 (GRCm39)	C484R	probably damaging	Het
Rdh19	A	G	10: 127,686,113 (GRCm39)	D75G	probably benign	Het
Rpl21-ps10	T	C	3: 38,161,617 (GRCm39)		noncoding transcript	Het
Rsl1d1	A	T	16: 11,017,593 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rwdd1	T	C	10: 33,885,074 (GRCm39)	D62G	possibly damaging	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,291,799 (GRCm39)	N1649S	probably damaging	Het
Slc20a2	C	T	8: 23,051,020 (GRCm39)	S351L	probably damaging	Het
Slc24a1	A	T	9: 64,855,213 (GRCm39)	F565I	unknown	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Sox6	T	C	7: 115,076,199 (GRCm39)	D814G	probably damaging	Het
Spata4	T	C	8: 55,055,471 (GRCm39)		probably null	Het
Spats2l	A	T	1: 57,941,347 (GRCm39)	K202M	probably damaging	Het
Speer4b	C	T	5: 27,705,134 (GRCm39)	E80K	probably benign	Het
Sqle	T	G	15: 59,193,218 (GRCm39)	Y198*	probably null	Het
Srek1	T	C	13: 103,889,194 (GRCm39)		probably benign	Het
Srek1	T	C	13: 103,889,071 (GRCm39)		probably benign	Het
St14	G	A	9: 31,019,960 (GRCm39)	R50*	probably null	Het
Tcaf1	A	G	6: 42,652,130 (GRCm39)	V784A	probably damaging	Het
Tfr2	C	T	5: 137,581,673 (GRCm39)	R587W	probably damaging	Het
Tmpo	A	G	10: 90,985,411 (GRCm39)	V357A	probably damaging	Het
Trrap	A	T	5: 144,742,545 (GRCm39)	I1101F	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttpal	G	A	2: 163,449,397 (GRCm39)	R84H	probably damaging	Het
Tyk2	T	C	9: 21,022,433 (GRCm39)	T799A	probably benign	Het
Ugt1a10	A	T	1: 87,983,646 (GRCm39)	D148V	probably damaging	Het
Usp29	C	T	7: 6,964,504 (GRCm39)	P116S	probably benign	Het
Usp8	A	T	2: 126,562,060 (GRCm39)	K85*	probably null	Het
Usp9y	C	T	Y: 1,316,735 (GRCm39)	R1938H	probably damaging	Het
Vmn1r90	T	G	7: 14,295,950 (GRCm39)	R49S	possibly damaging	Het
Vmn2r71	C	A	7: 85,270,476 (GRCm39)	N547K	probably damaging	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het
Yars1	A	T	4: 129,104,384 (GRCm39)		probably benign	Het
Zfp114	T	C	7: 23,877,290 (GRCm39)	L44P	probably damaging	Het
Zfp36l2	A	G	17: 84,493,690 (GRCm39)		probably benign	Het
Zfp512	T	C	5: 31,634,209 (GRCm39)	S407P	probably damaging	Het
Zfp574	C	T	7: 24,780,151 (GRCm39)	P391L	probably damaging	Het
Zfp607a	T	G	7: 27,577,985 (GRCm39)	C352G	probably benign	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	Het
Zfr	A	C	15: 12,162,198 (GRCm39)		probably null	Het

Other mutations in Mapk8ip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Mapk8ip3	APN	17	25,119,793 (GRCm39)	missense	probably damaging	1.00
IGL01018:Mapk8ip3	APN	17	25,118,693 (GRCm39)	splice site	probably benign
IGL01066:Mapk8ip3	APN	17	25,120,692 (GRCm39)	missense	probably benign	0.00
IGL01656:Mapk8ip3	APN	17	25,137,003 (GRCm39)	missense	probably damaging	0.99
IGL01991:Mapk8ip3	APN	17	25,146,835 (GRCm39)	missense	possibly damaging	0.78
IGL02014:Mapk8ip3	APN	17	25,122,254 (GRCm39)	splice site	probably benign
IGL02219:Mapk8ip3	APN	17	25,118,532 (GRCm39)	missense	probably damaging	1.00
IGL03006:Mapk8ip3	APN	17	25,120,489 (GRCm39)	missense	probably benign
ANU74:Mapk8ip3	UTSW	17	25,119,551 (GRCm39)	missense	possibly damaging	0.94
FR4737:Mapk8ip3	UTSW	17	25,121,093 (GRCm39)	splice site	probably null
R0028:Mapk8ip3	UTSW	17	25,123,871 (GRCm39)	splice site	probably benign
R0401:Mapk8ip3	UTSW	17	25,128,145 (GRCm39)	intron	probably benign
R0496:Mapk8ip3	UTSW	17	25,133,424 (GRCm39)	splice site	probably benign
R1456:Mapk8ip3	UTSW	17	25,125,923 (GRCm39)	missense	probably damaging	1.00
R1503:Mapk8ip3	UTSW	17	25,123,897 (GRCm39)	missense	probably damaging	1.00
R1554:Mapk8ip3	UTSW	17	25,122,033 (GRCm39)	missense	probably benign	0.14
R1680:Mapk8ip3	UTSW	17	25,119,985 (GRCm39)	missense	probably damaging	1.00
R1733:Mapk8ip3	UTSW	17	25,155,824 (GRCm39)	missense	possibly damaging	0.70
R1741:Mapk8ip3	UTSW	17	25,118,828 (GRCm39)	missense	probably damaging	1.00
R1750:Mapk8ip3	UTSW	17	25,133,433 (GRCm39)	missense	probably null	1.00
R1774:Mapk8ip3	UTSW	17	25,143,119 (GRCm39)	critical splice donor site	probably null
R1845:Mapk8ip3	UTSW	17	25,133,557 (GRCm39)	missense	probably benign	0.29
R1911:Mapk8ip3	UTSW	17	25,123,025 (GRCm39)	missense	probably benign	0.00
R1993:Mapk8ip3	UTSW	17	25,133,562 (GRCm39)	missense	probably damaging	1.00
R2512:Mapk8ip3	UTSW	17	25,133,677 (GRCm39)	nonsense	probably null
R2656:Mapk8ip3	UTSW	17	25,131,781 (GRCm39)	missense	probably damaging	1.00
R2990:Mapk8ip3	UTSW	17	25,124,266 (GRCm39)	missense	probably benign	0.00
R4587:Mapk8ip3	UTSW	17	25,123,761 (GRCm39)	missense	probably damaging	1.00
R4617:Mapk8ip3	UTSW	17	25,123,761 (GRCm39)	missense	probably damaging	1.00
R4627:Mapk8ip3	UTSW	17	25,122,267 (GRCm39)	missense	probably benign
R4649:Mapk8ip3	UTSW	17	25,123,726 (GRCm39)	missense	probably damaging	1.00
R4868:Mapk8ip3	UTSW	17	25,120,389 (GRCm39)	missense	probably benign	0.04
R4903:Mapk8ip3	UTSW	17	25,120,183 (GRCm39)	missense	probably benign
R5447:Mapk8ip3	UTSW	17	25,118,163 (GRCm39)	missense	probably benign
R5642:Mapk8ip3	UTSW	17	25,122,285 (GRCm39)	missense	possibly damaging	0.63
R6320:Mapk8ip3	UTSW	17	25,125,879 (GRCm39)	missense	probably damaging	0.99
R6900:Mapk8ip3	UTSW	17	25,128,097 (GRCm39)	splice site	probably null
R7178:Mapk8ip3	UTSW	17	25,120,728 (GRCm39)	missense	probably benign	0.02
R7273:Mapk8ip3	UTSW	17	25,125,148 (GRCm39)	missense	probably benign	0.00
R7317:Mapk8ip3	UTSW	17	25,120,692 (GRCm39)	missense	probably benign	0.00
R7323:Mapk8ip3	UTSW	17	25,120,135 (GRCm39)	missense	probably benign
R7701:Mapk8ip3	UTSW	17	25,120,378 (GRCm39)	missense	possibly damaging	0.93
R7873:Mapk8ip3	UTSW	17	25,125,146 (GRCm39)	missense	probably benign	0.01
R8070:Mapk8ip3	UTSW	17	25,120,078 (GRCm39)	critical splice donor site	probably null
R8314:Mapk8ip3	UTSW	17	25,120,748 (GRCm39)	missense	probably benign	0.09
R8356:Mapk8ip3	UTSW	17	25,123,925 (GRCm39)	missense	probably damaging	1.00
R8441:Mapk8ip3	UTSW	17	25,139,474 (GRCm39)	intron	probably benign
R8537:Mapk8ip3	UTSW	17	25,120,652 (GRCm39)	nonsense	probably null
R8802:Mapk8ip3	UTSW	17	25,124,206 (GRCm39)	missense	probably damaging	1.00
R8864:Mapk8ip3	UTSW	17	25,118,492 (GRCm39)	missense	probably damaging	1.00
R8918:Mapk8ip3	UTSW	17	25,131,727 (GRCm39)	missense	probably damaging	1.00
R9312:Mapk8ip3	UTSW	17	25,146,925 (GRCm39)	critical splice acceptor site	probably null
R9599:Mapk8ip3	UTSW	17	25,118,124 (GRCm39)	missense	probably damaging	1.00
R9638:Mapk8ip3	UTSW	17	25,118,023 (GRCm39)	missense	probably benign
R9640:Mapk8ip3	UTSW	17	25,155,647 (GRCm39)	missense	possibly damaging	0.46
R9723:Mapk8ip3	UTSW	17	25,132,585 (GRCm39)	missense	possibly damaging	0.83
X0024:Mapk8ip3	UTSW	17	25,122,947 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- CAGTGGAGCAATCCCATCTG -3'
(R):5'- ATGTATCCTGGACCTGCTGACG -3'

Sequencing Primer
(F):5'- GCATTTTTGGCAGTAGCAGC -3'
(R):5'- CTGGACCTGCTGACGTGTTTTG -3'

Posted On

2016-04-15