Mutagenetix > Incidental Mutations

Incidental Mutation 'R6564:4931429L15Rik'

522350

Institutional Source

Beutler Lab

Gene Symbol

4931429L15Rik

Ensembl Gene

ENSMUSG00000056617

Gene Name

RIKEN cDNA 4931429L15 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6564 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46303361-46319986 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 46306904 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 179 (D179Y)

Ref Sequence

ENSEMBL: ENSMUSP00000128017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159565] [ENSMUST00000160795] [ENSMUST00000172280]

Predicted Effect

probably damaging
Transcript: ENSMUST00000159565
AA Change: D179Y

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124991
Gene: ENSMUSG00000056617
AA Change: D179Y

Domain	Start	End	E-Value	Type
low complexity region	80	87	N/A	INTRINSIC
low complexity region	259	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160795

Predicted Effect

probably damaging
Transcript: ENSMUST00000172280
AA Change: D179Y

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128017
Gene: ENSMUSG00000056617
AA Change: D179Y

Domain	Start	End	E-Value	Type
low complexity region	80	87	N/A	INTRINSIC
low complexity region	259	272	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,486,077		probably null	Het
Abca1	A	T	4: 53,034,031	L2233Q	possibly damaging	Het
Abca12	T	A	1: 71,309,850	E834V	possibly damaging	Het
Abcc9	T	C	6: 142,603,108	Y1318C	probably damaging	Het
Adam15	C	A	3: 89,347,212	R121L	possibly damaging	Het
Afdn	T	A	17: 13,896,089	M1588K	probably benign	Het
Akap9	T	C	5: 4,028,491	S1849P	probably damaging	Het
Bag6	T	C	17: 35,140,371	S213P	probably damaging	Het
Bpifb9a	T	C	2: 154,260,178	V65A	probably benign	Het
Chn1	T	A	2: 73,618,041	I203F	probably damaging	Het
Crnkl1	T	A	2: 145,928,245	E226V	possibly damaging	Het
Cspg4	A	G	9: 56,890,158	E1302G	probably benign	Het
Dnah5	G	T	15: 28,367,745	A2759S	probably benign	Het
Doxl2	T	C	6: 48,977,575	V549A	probably benign	Het
Dtx1	T	A	5: 120,695,017	T119S	probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Ezr	C	T	17: 6,742,847	V268M	probably damaging	Het
Fbxl15	T	C	19: 46,329,338	V153A	probably damaging	Het
Fkbpl	C	A	17: 34,646,266	A336E	probably benign	Het
Gsg1l2	A	G	11: 67,786,504	T200A	possibly damaging	Het
H2afx	T	C	9: 44,334,912	Y51H	probably damaging	Het
Ifi213	A	C	1: 173,595,296	M1R	probably null	Het
Kcnt1	A	C	2: 25,911,051	D1045A	probably benign	Het
Kdm4a	C	A	4: 118,177,439	A32S	probably benign	Het
Klkb1	A	T	8: 45,273,634	V444E	probably damaging	Het
Mccc1	T	C	3: 35,976,676	T414A	probably damaging	Het
Miga1	A	C	3: 152,285,322	N367K	probably damaging	Het
Mmp7	A	G	9: 7,695,184	D49G	probably benign	Het
Nlrp1a	A	G	11: 71,123,572	L284P	probably damaging	Het
Olfr1411	T	C	1: 92,596,563	S15P	probably benign	Het
Olfr853	G	A	9: 19,537,210	T240I	possibly damaging	Het
Pbld1	T	A	10: 63,072,027	I224N	possibly damaging	Het
Pih1d1	A	T	7: 45,159,819	R276W	probably damaging	Het
Plekhg1	G	T	10: 3,964,153	V1292L	probably damaging	Het
Prex2	A	G	1: 11,101,061		probably null	Het
Rbm6	T	C	9: 107,833,498	Y498C	probably damaging	Het
Reps1	T	A	10: 18,122,392		probably null	Het
Ruvbl1	T	A	6: 88,479,226	I154N	possibly damaging	Het
Slc4a5	T	G	6: 83,280,060	F616V	possibly damaging	Het
Spag5	A	T	11: 78,315,575	T798S	probably damaging	Het
Spam1	T	A	6: 24,796,356	I102K	possibly damaging	Het
Sptbn2	C	A	19: 4,732,024	F430L	probably damaging	Het
Svs3a	T	A	2: 164,289,350	I21K	probably damaging	Het
Tet3	T	A	6: 83,386,070	I842L	possibly damaging	Het
Tlr2	T	A	3: 83,837,695	K360N	probably benign	Het
Tmem45b	C	G	9: 31,428,005	W138S	probably damaging	Het
Tpgs2	T	C	18: 25,158,287	E40G	probably damaging	Het
Traj40	T	C	14: 54,177,942		probably benign	Het
Trpm5	A	G	7: 143,072,770	S125P	probably damaging	Het
Ttc3	G	T	16: 94,442,611	C1158F	probably damaging	Het
Tubg1	T	C	11: 101,120,889	I74T	probably damaging	Het
Vav2	A	T	2: 27,279,185		probably null	Het
Wbp4	G	T	14: 79,467,428	H201N	probably damaging	Het
Wdhd1	A	G	14: 47,248,042	S821P	probably benign	Het
Wsb2	A	T	5: 117,370,560		probably null	Het
Zic5	A	G	14: 122,459,421	L594P	unknown	Het

Other mutations in 4931429L15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:4931429L15Rik	APN	9	46308952	missense	possibly damaging	0.95
IGL01649:4931429L15Rik	APN	9	46305818	missense	probably benign	0.00
R0094:4931429L15Rik	UTSW	9	46306886	missense	possibly damaging	0.94
R0094:4931429L15Rik	UTSW	9	46306886	missense	possibly damaging	0.94
R1496:4931429L15Rik	UTSW	9	46310254	unclassified	probably benign
R1971:4931429L15Rik	UTSW	9	46308788	missense	probably benign	0.00
R2139:4931429L15Rik	UTSW	9	46304295	missense	probably damaging	0.96
R4078:4931429L15Rik	UTSW	9	46304061	nonsense	probably null
R4780:4931429L15Rik	UTSW	9	46308846	missense	possibly damaging	0.90
R5088:4931429L15Rik	UTSW	9	46305740	missense	probably benign	0.00
R5138:4931429L15Rik	UTSW	9	46306821	critical splice donor site	probably null
R5419:4931429L15Rik	UTSW	9	46309326	critical splice donor site	probably null
R5734:4931429L15Rik	UTSW	9	46304005	unclassified	probably benign
R5739:4931429L15Rik	UTSW	9	46309419	missense	probably benign	0.27
R5907:4931429L15Rik	UTSW	9	46306822	missense	probably damaging	0.97
R6127:4931429L15Rik	UTSW	9	46308922	missense	probably damaging	1.00
R7556:4931429L15Rik	UTSW	9	46310313	nonsense	probably null
R7818:4931429L15Rik	UTSW	9	46304221	missense	probably benign	0.01
X0024:4931429L15Rik	UTSW	9	46308969	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTGTTTCTCTGAGATGACAG -3'
(R):5'- AGACCGGGCATTGCATAAAGC -3'

Sequencing Primer
(F):5'- TCATATAGTACCTGCGCCTGGG -3'
(R):5'- CAGGCATGGTGATTGATGCAAC -3'

Posted On

2018-06-06