Mutagenetix > Incidental Mutation

Incidental Mutation 'R3916:4932414N04Rik'

309723

Institutional Source

Beutler Lab

Gene Symbol

4932414N04Rik

Ensembl Gene

ENSMUSG00000079324

Gene Name

RIKEN cDNA 4932414N04 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68656486-68748467 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 68731985 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 319 (F319V)

Ref Sequence

ENSEMBL: ENSMUSP00000135792 (fasta)

Gene Model

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

AlphaFold

Q8CEQ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055930
AA Change: F319V

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
AA Change: F319V

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

possibly damaging
Transcript: ENSMUST00000128259
AA Change: F319V

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
AA Change: F319V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197	F939L	probably benign	Het
Arhgef2	A	G	3: 88,633,033	N127S	probably damaging	Het
Arid1b	A	G	17: 5,342,653	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037	F256Y	probably benign	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,249,372	T377A	probably damaging	Het
F2	G	A	2: 91,625,488	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557		probably null	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Ifi204	T	G	1: 173,755,775	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164		probably null	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Larp4	C	T	15: 99,990,403	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342		probably benign	Het
Lrrc37a	T	C	11: 103,455,518	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Obox3	C	A	7: 15,627,226	C38F	probably benign	Het
P4ha2	A	G	11: 54,126,248	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,448,545	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,030,788	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458	F482S	probably damaging	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a3	A	G	13: 73,562,308	I346V	probably benign	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Spns1	A	T	7: 126,371,539		probably null	Het
Supv3l1	T	C	10: 62,449,420	D89G	possibly damaging	Het
Taf1c	G	A	8: 119,600,505	R412W	probably damaging	Het
Tctn3	T	A	19: 40,607,649	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tet2	T	C	3: 133,486,055	K873E	possibly damaging	Het
Thada	G	A	17: 84,441,782	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc80	T	C	1: 66,677,495	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	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
R3950:4932414N04Rik	UTSW	2	68664403	critical splice donor site	probably null
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'- GATCCTGAGCATTTCCACTAGAG -3'
(R):5'- TCCAGGTGGGCTATTATGGAC -3'

Sequencing Primer
(F):5'- GTAGAGGGTATTTCACATGTACTTCC -3'
(R):5'- CTATTATGGACTGATTTGCGGGC -3'

Posted On

2015-04-17