Mutagenetix > Incidental Mutation

Incidental Mutation 'R6564:4931429L15Rik'

522350

Institutional Source

Beutler Lab

Gene Symbol

4931429L15Rik

Ensembl Gene

ENSMUSG00000056617

Gene Name

RIKEN cDNA 4931429L15 gene

Synonyms

MMRRC Submission

044688-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6564 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46214659-46231284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 46218202 bp (GRCm39)

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]

AlphaFold

E9PVU2

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: 119,622,613 (GRCm39)		probably null	Het
Abca1	A	T	4: 53,034,031 (GRCm39)	L2233Q	possibly damaging	Het
Abca12	T	A	1: 71,349,009 (GRCm39)	E834V	possibly damaging	Het
Abcc9	T	C	6: 142,548,834 (GRCm39)	Y1318C	probably damaging	Het
Adam15	C	A	3: 89,254,519 (GRCm39)	R121L	possibly damaging	Het
Afdn	T	A	17: 14,116,351 (GRCm39)	M1588K	probably benign	Het
Akap9	T	C	5: 4,078,491 (GRCm39)	S1849P	probably damaging	Het
Aoc1l1	T	C	6: 48,954,509 (GRCm39)	V549A	probably benign	Het
Bag6	T	C	17: 35,359,347 (GRCm39)	S213P	probably damaging	Het
Bpifb9a	T	C	2: 154,102,098 (GRCm39)	V65A	probably benign	Het
Chn1	T	A	2: 73,448,385 (GRCm39)	I203F	probably damaging	Het
Crnkl1	T	A	2: 145,770,165 (GRCm39)	E226V	possibly damaging	Het
Cspg4	A	G	9: 56,797,442 (GRCm39)	E1302G	probably benign	Het
Dnah5	G	T	15: 28,367,891 (GRCm39)	A2759S	probably benign	Het
Dtx1	T	A	5: 120,833,082 (GRCm39)	T119S	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Ezr	C	T	17: 7,010,246 (GRCm39)	V268M	probably damaging	Het
Fbxl15	T	C	19: 46,317,777 (GRCm39)	V153A	probably damaging	Het
Fkbpl	C	A	17: 34,865,240 (GRCm39)	A336E	probably benign	Het
Gsg1l2	A	G	11: 67,677,330 (GRCm39)	T200A	possibly damaging	Het
H2ax	T	C	9: 44,246,209 (GRCm39)	Y51H	probably damaging	Het
Ifi213	A	C	1: 173,422,862 (GRCm39)	M1R	probably null	Het
Kcnt1	A	C	2: 25,801,063 (GRCm39)	D1045A	probably benign	Het
Kdm4a	C	A	4: 118,034,636 (GRCm39)	A32S	probably benign	Het
Klkb1	A	T	8: 45,726,671 (GRCm39)	V444E	probably damaging	Het
Mccc1	T	C	3: 36,030,825 (GRCm39)	T414A	probably damaging	Het
Miga1	A	C	3: 151,990,959 (GRCm39)	N367K	probably damaging	Het
Mmp7	A	G	9: 7,695,185 (GRCm39)	D49G	probably benign	Het
Nlrp1a	A	G	11: 71,014,398 (GRCm39)	L284P	probably damaging	Het
Or7g33	G	A	9: 19,448,506 (GRCm39)	T240I	possibly damaging	Het
Or9s15	T	C	1: 92,524,285 (GRCm39)	S15P	probably benign	Het
Pbld1	T	A	10: 62,907,806 (GRCm39)	I224N	possibly damaging	Het
Pih1d1	A	T	7: 44,809,243 (GRCm39)	R276W	probably damaging	Het
Plekhg1	G	T	10: 3,914,153 (GRCm39)	V1292L	probably damaging	Het
Prex2	A	G	1: 11,171,285 (GRCm39)		probably null	Het
Rbm6	T	C	9: 107,710,697 (GRCm39)	Y498C	probably damaging	Het
Reps1	T	A	10: 17,998,140 (GRCm39)		probably null	Het
Ruvbl1	T	A	6: 88,456,208 (GRCm39)	I154N	possibly damaging	Het
Slc4a5	T	G	6: 83,257,042 (GRCm39)	F616V	possibly damaging	Het
Spag5	A	T	11: 78,206,401 (GRCm39)	T798S	probably damaging	Het
Spam1	T	A	6: 24,796,355 (GRCm39)	I102K	possibly damaging	Het
Sptbn2	C	A	19: 4,782,052 (GRCm39)	F430L	probably damaging	Het
Svs3a	T	A	2: 164,131,270 (GRCm39)	I21K	probably damaging	Het
Tet3	T	A	6: 83,363,052 (GRCm39)	I842L	possibly damaging	Het
Tlr2	T	A	3: 83,745,002 (GRCm39)	K360N	probably benign	Het
Tmem45b	C	G	9: 31,339,301 (GRCm39)	W138S	probably damaging	Het
Tpgs2	T	C	18: 25,291,344 (GRCm39)	E40G	probably damaging	Het
Traj40	T	C	14: 54,415,399 (GRCm39)		probably benign	Het
Trpm5	A	G	7: 142,626,507 (GRCm39)	S125P	probably damaging	Het
Ttc3	G	T	16: 94,243,470 (GRCm39)	C1158F	probably damaging	Het
Tubg1	T	C	11: 101,011,715 (GRCm39)	I74T	probably damaging	Het
Vav2	A	T	2: 27,169,197 (GRCm39)		probably null	Het
Wbp4	G	T	14: 79,704,868 (GRCm39)	H201N	probably damaging	Het
Wdhd1	A	G	14: 47,485,499 (GRCm39)	S821P	probably benign	Het
Wsb2	A	T	5: 117,508,625 (GRCm39)		probably null	Het
Zic5	A	G	14: 122,696,833 (GRCm39)	L594P	unknown	Het

Other mutations in 4931429L15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:4931429L15Rik	APN	9	46,220,250 (GRCm39)	missense	possibly damaging	0.95
IGL01649:4931429L15Rik	APN	9	46,217,116 (GRCm39)	missense	probably benign	0.00
R0094:4931429L15Rik	UTSW	9	46,218,184 (GRCm39)	missense	possibly damaging	0.94
R0094:4931429L15Rik	UTSW	9	46,218,184 (GRCm39)	missense	possibly damaging	0.94
R1496:4931429L15Rik	UTSW	9	46,221,552 (GRCm39)	unclassified	probably benign
R1971:4931429L15Rik	UTSW	9	46,220,086 (GRCm39)	missense	probably benign	0.00
R2139:4931429L15Rik	UTSW	9	46,215,593 (GRCm39)	missense	probably damaging	0.96
R4078:4931429L15Rik	UTSW	9	46,215,359 (GRCm39)	nonsense	probably null
R4780:4931429L15Rik	UTSW	9	46,220,144 (GRCm39)	missense	possibly damaging	0.90
R5088:4931429L15Rik	UTSW	9	46,217,038 (GRCm39)	missense	probably benign	0.00
R5138:4931429L15Rik	UTSW	9	46,218,119 (GRCm39)	critical splice donor site	probably null
R5419:4931429L15Rik	UTSW	9	46,220,624 (GRCm39)	critical splice donor site	probably null
R5734:4931429L15Rik	UTSW	9	46,215,303 (GRCm39)	unclassified	probably benign
R5739:4931429L15Rik	UTSW	9	46,220,717 (GRCm39)	missense	probably benign	0.27
R5907:4931429L15Rik	UTSW	9	46,218,120 (GRCm39)	missense	probably damaging	0.97
R6127:4931429L15Rik	UTSW	9	46,220,220 (GRCm39)	missense	probably damaging	1.00
R7556:4931429L15Rik	UTSW	9	46,221,611 (GRCm39)	nonsense	probably null
R7818:4931429L15Rik	UTSW	9	46,215,519 (GRCm39)	missense	probably benign	0.01
R8894:4931429L15Rik	UTSW	9	46,216,397 (GRCm39)	missense	probably benign	0.24
R8962:4931429L15Rik	UTSW	9	46,220,173 (GRCm39)	missense	probably benign	0.01
X0024:4931429L15Rik	UTSW	9	46,220,267 (GRCm39)	small deletion	probably benign
Z1177:4931429L15Rik	UTSW	9	46,217,136 (GRCm39)	missense	probably damaging	0.96

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