Mutagenetix > Incidental Mutation

Incidental Mutation 'R3950:4932414N04Rik'

307848

Institutional Source

Beutler Lab

Gene Symbol

4932414N04Rik

Ensembl Gene

ENSMUSG00000079324

Gene Name

RIKEN cDNA 4932414N04 gene

Synonyms

MMRRC Submission

040930-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68656486-68748467 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 68664403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055930] [ENSMUST00000055930] [ENSMUST00000055930] [ENSMUST00000055930] [ENSMUST00000125621] [ENSMUST00000125621] [ENSMUST00000125621] [ENSMUST00000125621] [ENSMUST00000128259] [ENSMUST00000128259] [ENSMUST00000128259] [ENSMUST00000128259]

AlphaFold

Q8CEQ9

Predicted Effect

probably null
Transcript: ENSMUST00000055930

SMART Domains

Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324

Domain	Start	End	E-Value	Type
coiled coil region	154	241	N/A	INTRINSIC
Pfam:DUF3496	265	361	8.5e-12	PFAM
internal_repeat_1	456	597	1.76e-26	PROSPERO
internal_repeat_1	601	737	1.76e-26	PROSPERO

Predicted Effect

probably null
Transcript: ENSMUST00000055930

SMART Domains

Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324

Domain	Start	End	E-Value	Type
coiled coil region	154	241	N/A	INTRINSIC
Pfam:DUF3496	265	361	8.5e-12	PFAM
internal_repeat_1	456	597	1.76e-26	PROSPERO
internal_repeat_1	601	737	1.76e-26	PROSPERO

Predicted Effect

probably null
Transcript: ENSMUST00000055930

SMART Domains

Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324

Domain	Start	End	E-Value	Type
coiled coil region	154	241	N/A	INTRINSIC
Pfam:DUF3496	265	361	8.5e-12	PFAM
internal_repeat_1	456	597	1.76e-26	PROSPERO
internal_repeat_1	601	737	1.76e-26	PROSPERO

Predicted Effect

probably null
Transcript: ENSMUST00000055930

SMART Domains

Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324

Domain	Start	End	E-Value	Type
coiled coil region	154	241	N/A	INTRINSIC
Pfam:DUF3496	265	361	8.5e-12	PFAM
internal_repeat_1	456	597	1.76e-26	PROSPERO
internal_repeat_1	601	737	1.76e-26	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000112332

Predicted Effect

probably null
Transcript: ENSMUST00000125621

Predicted Effect

probably null
Transcript: ENSMUST00000125621

Predicted Effect

probably null
Transcript: ENSMUST00000125621

Predicted Effect

probably null
Transcript: ENSMUST00000125621

Predicted Effect

probably null
Transcript: ENSMUST00000128259

SMART Domains

Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324

Domain	Start	End	E-Value	Type
internal_repeat_1	5	39	6.02e-5	PROSPERO
internal_repeat_1	209	242	6.02e-5	PROSPERO
low complexity region	286	297	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000128259

SMART Domains

Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324

Domain	Start	End	E-Value	Type
internal_repeat_1	5	39	6.02e-5	PROSPERO
internal_repeat_1	209	242	6.02e-5	PROSPERO
low complexity region	286	297	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000128259

SMART Domains

Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324

Domain	Start	End	E-Value	Type
internal_repeat_1	5	39	6.02e-5	PROSPERO
internal_repeat_1	209	242	6.02e-5	PROSPERO
low complexity region	286	297	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000128259

SMART Domains

Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324

Domain	Start	End	E-Value	Type
internal_repeat_1	5	39	6.02e-5	PROSPERO
internal_repeat_1	209	242	6.02e-5	PROSPERO
low complexity region	286	297	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	A	T	12: 112,785,789	I186N	probably damaging	Het
Appbp2	A	G	11: 85,194,706	I458T	probably damaging	Het
Arhgef25	T	C	10: 127,185,144	Y291C	probably damaging	Het
Ate1	T	C	7: 130,467,292	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,768,022	A72S	probably benign	Het
C3	T	C	17: 57,225,286	R178G	probably benign	Het
Cdh23	T	C	10: 60,657,326	Y3C	probably benign	Het
Col11a1	T	C	3: 114,121,445		probably null	Het
Col22a1	A	G	15: 71,977,358	F294L	possibly damaging	Het
Dera	A	G	6: 137,837,120	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061	Y276*	probably null	Het
Eea1	A	T	10: 96,042,134	N1389I	probably damaging	Het
Epha4	A	T	1: 77,399,716	Y509N	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,420	K219*	probably null	Het
Fsd1	G	A	17: 55,995,517		probably null	Het
Haspin	A	G	11: 73,136,395	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,856,138	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,385,227	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,343,232	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,405,615	P609T	probably damaging	Het
Klhl18	T	A	9: 110,428,902	Y490F	probably damaging	Het
Ky	C	T	9: 102,542,428	Q545*	probably null	Het
L1td1	T	C	4: 98,737,353	L595P	probably benign	Het
Map3k20	T	G	2: 72,438,300	I550M	probably damaging	Het
Mug1	T	A	6: 121,878,530	V941E	probably damaging	Het
Ndst1	T	C	18: 60,697,139	N633S	probably benign	Het
Ninl	A	T	2: 150,952,488	I740K	possibly damaging	Het
Npepl1	A	G	2: 174,121,113	N431D	probably damaging	Het
Olfr1128	T	C	2: 87,545,065	T160A	probably damaging	Het
Pacs2	T	C	12: 113,061,113	S408P	probably damaging	Het
Pard6b	C	T	2: 168,099,194	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,716,515	E525G	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pcx	C	T	19: 4,617,967	H506Y	probably benign	Het
Pdhx	A	G	2: 103,035,241	S199P	probably damaging	Het
Pdia2	C	A	17: 26,197,616		probably null	Het
Pif1	C	A	9: 65,591,834	N445K	probably damaging	Het
Prickle4	T	C	17: 47,688,582	K349E	probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpdc1	A	T	13: 48,589,194	M173K	probably damaging	Het
Rb1	A	G	14: 73,262,662	L515P	probably damaging	Het
Rcvrn	A	G	11: 67,700,051	K154E	probably damaging	Het
Ros1	C	T	10: 52,066,388	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,909,897		probably null	Het
Sema5a	T	C	15: 32,689,338	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,664,269	V318I	probably benign	Het
Srek1	G	A	13: 103,744,895	R408W	unknown	Het
Synrg	C	T	11: 83,989,815	T444I	probably damaging	Het
Ticrr	T	C	7: 79,682,069	L776S	probably damaging	Het
Tmem127	T	C	2: 127,248,657	L31P	probably damaging	Het
Tmprss15	T	A	16: 79,073,186	T190S	probably benign	Het
Trip10	T	A	17: 57,253,411		probably null	Het
Ttc6	A	G	12: 57,649,506	Y31C	probably damaging	Het
Unc80	A	T	1: 66,622,570	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,687,546	F495S	probably damaging	Het
Zfp280d	G	T	9: 72,296,019	Q16H	possibly damaging	Het
Zfp521	A	G	18: 13,846,346	S337P	probably damaging	Het
Zswim9	T	A	7: 13,261,577	T218S	possibly damaging	Het

Other mutations in 4932414N04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:4932414N04Rik	APN	2	68732875	missense	probably benign	0.02
IGL01384:4932414N04Rik	APN	2	68745405	missense	possibly damaging	0.53
IGL02170:4932414N04Rik	APN	2	68731123	missense	probably benign	0.02
IGL02650:4932414N04Rik	APN	2	68741537	missense	probably benign	0.00
IGL02707:4932414N04Rik	APN	2	68731130	missense	possibly damaging	0.71
IGL02737:4932414N04Rik	APN	2	68736560	missense	possibly damaging	0.53
IGL03351:4932414N04Rik	APN	2	68731083	missense	probably benign
R0328:4932414N04Rik	UTSW	2	68744280	missense	possibly damaging	0.53
R0362:4932414N04Rik	UTSW	2	68732917	missense	probably benign	0.00
R0638:4932414N04Rik	UTSW	2	68717228	missense	probably benign	0.18
R1201:4932414N04Rik	UTSW	2	68716282	missense	possibly damaging	0.53
R1381:4932414N04Rik	UTSW	2	68731086	missense	probably benign	0.18
R1456:4932414N04Rik	UTSW	2	68716214	missense	possibly damaging	0.86
R2001:4932414N04Rik	UTSW	2	68741456	missense	probably benign
R2051:4932414N04Rik	UTSW	2	68711048	missense	possibly damaging	0.72
R2228:4932414N04Rik	UTSW	2	68729591	missense	probably benign	0.00
R2292:4932414N04Rik	UTSW	2	68732139	missense	probably benign	0.00
R2357:4932414N04Rik	UTSW	2	68739500	missense	possibly damaging	0.86
R2484:4932414N04Rik	UTSW	2	68711475	missense	possibly damaging	0.85
R3035:4932414N04Rik	UTSW	2	68745418	missense	probably benign	0.00
R3916:4932414N04Rik	UTSW	2	68731985	missense	possibly damaging	0.71
R3951:4932414N04Rik	UTSW	2	68664403	critical splice donor site	probably null
R3952:4932414N04Rik	UTSW	2	68664403	critical splice donor site	probably null
R4091:4932414N04Rik	UTSW	2	68745378	missense	possibly damaging	0.73
R4118:4932414N04Rik	UTSW	2	68736513	missense	probably benign
R4153:4932414N04Rik	UTSW	2	68668597	intron	probably benign
R4210:4932414N04Rik	UTSW	2	68659878	start gained	probably benign
R4614:4932414N04Rik	UTSW	2	68745460	missense	probably benign	0.01
R4818:4932414N04Rik	UTSW	2	68741466	missense	probably benign
R5202:4932414N04Rik	UTSW	2	68731964	missense	probably benign
R5466:4932414N04Rik	UTSW	2	68711389	missense	probably benign	0.11
R5585:4932414N04Rik	UTSW	2	68741426	missense	probably benign	0.00
R5602:4932414N04Rik	UTSW	2	68748368	makesense	probably null
R5846:4932414N04Rik	UTSW	2	68732033	missense	unknown
R5902:4932414N04Rik	UTSW	2	68708937	start codon destroyed	probably null
R6002:4932414N04Rik	UTSW	2	68662424	splice site	probably null
R6029:4932414N04Rik	UTSW	2	68694026	splice site	probably null
R6093:4932414N04Rik	UTSW	2	68659870	splice site	probably benign
R6168:4932414N04Rik	UTSW	2	68741483	missense	possibly damaging	0.86
R6300:4932414N04Rik	UTSW	2	68731109	missense	possibly damaging	0.96
R6322:4932414N04Rik	UTSW	2	68729499	missense	probably benign	0.00
R6533:4932414N04Rik	UTSW	2	68716318	nonsense	probably null
R6547:4932414N04Rik	UTSW	2	68659907	utr 5 prime	probably benign
R7309:4932414N04Rik	UTSW	2	68716186	missense	probably benign	0.29
R7400:4932414N04Rik	UTSW	2	68666203	missense	unknown
R7454:4932414N04Rik	UTSW	2	68688304	missense	unknown
R7481:4932414N04Rik	UTSW	2	68664231	missense	unknown
R7498:4932414N04Rik	UTSW	2	68667668	missense	unknown
R7523:4932414N04Rik	UTSW	2	68662480	missense	unknown
R7523:4932414N04Rik	UTSW	2	68739329	missense	probably benign	0.01
R7583:4932414N04Rik	UTSW	2	68739326	missense	probably damaging	0.98
R7701:4932414N04Rik	UTSW	2	68731204	missense	possibly damaging	0.60
R7746:4932414N04Rik	UTSW	2	68728995	missense	probably benign	0.33
R7778:4932414N04Rik	UTSW	2	68739511	missense	possibly damaging	0.73
R7985:4932414N04Rik	UTSW	2	68664349	missense	unknown
R8525:4932414N04Rik	UTSW	2	68729034	missense	possibly damaging	0.83
R8765:4932414N04Rik	UTSW	2	68736612	missense	possibly damaging	0.85
R8906:4932414N04Rik	UTSW	2	68732154	missense	possibly damaging	0.85
R9406:4932414N04Rik	UTSW	2	68667675	missense	unknown
R9627:4932414N04Rik	UTSW	2	68657490	unclassified	probably benign
X0025:4932414N04Rik	UTSW	2	68729016	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TCAAGGAAGTACGTGTTGCATAG -3'
(R):5'- AGTGACAACTGTACTTAGGAAGC -3'

Sequencing Primer
(F):5'- AAGTACGTGTTGCATAGTTCTTG -3'
(R):5'- CTGTACTTAGGAAGCCAAACATACGG -3'

Posted On

2015-04-17