Mutagenetix > Incidental Mutation

Incidental Mutation 'R4962:4921509C19Rik'

381808

Institutional Source

Beutler Lab

Gene Symbol

4921509C19Rik

Ensembl Gene

ENSMUSG00000061525

Gene Name

RIKEN cDNA 4921509C19 gene

Synonyms

LOC381389

MMRRC Submission

042559-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4962 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151470542-151476153 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 151472808 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 317 (F317L)

Ref Sequence

ENSEMBL: ENSMUSP00000079030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080132]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080132
AA Change: F317L

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079030
Gene: ENSMUSG00000061525
AA Change: F317L

Domain	Start	End	E-Value	Type
S_TKc	24	271	2.18e-97	SMART
low complexity region	430	447	N/A	INTRINSIC
low complexity region	470	481	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155885

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,668,399 (GRCm38)	I85T	probably benign	Het
Acoxl	G	T	2: 128,075,890 (GRCm38)	C498F	probably damaging	Het
Akap13	C	T	7: 75,749,430 (GRCm38)	T2752I	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm38)	G601S	probably damaging	Het
Ap2a2	T	G	7: 141,630,148 (GRCm38)	F836C	probably damaging	Het
Atp2c1	A	G	9: 105,442,950 (GRCm38)	V404A	probably benign	Het
Atp7b	G	T	8: 22,020,885 (GRCm38)	A415E	probably damaging	Het
Babam2	A	T	5: 31,785,583 (GRCm38)	I71L	possibly damaging	Het
Bean1	A	G	8: 104,216,974 (GRCm38)	T54A	probably damaging	Het
Cacna1b	T	A	2: 24,618,318 (GRCm38)	I1816F	probably damaging	Het
Cacna1b	C	T	2: 24,657,366 (GRCm38)	G1202D	probably damaging	Het
Casp8ap2	A	G	4: 32,640,554 (GRCm38)	E536G	probably damaging	Het
Cfap57	A	G	4: 118,613,065 (GRCm38)	V206A	probably benign	Het
Clca2	A	T	3: 145,077,879 (GRCm38)	D658E	probably damaging	Het
Cwc22	A	T	2: 77,896,309 (GRCm38)	S809T	probably benign	Het
Cyp2c54	C	T	19: 40,072,141 (GRCm38)	R132Q	possibly damaging	Het
Ddx20	A	T	3: 105,680,605 (GRCm38)	D386E	possibly damaging	Het
Ddx50	T	C	10: 62,642,853 (GRCm38)	T185A	probably damaging	Het
Decr1	G	A	4: 15,930,976 (GRCm38)	R119*	probably null	Het
Dennd4a	T	C	9: 64,906,003 (GRCm38)	S1415P	probably benign	Het
Dnah12	A	T	14: 26,716,700 (GRCm38)	I495L	probably benign	Het
Dnah2	G	A	11: 69,455,973 (GRCm38)	Q2596*	probably null	Het
Dnajb13	A	G	7: 100,507,500 (GRCm38)	L123S	probably benign	Het
Elavl3	G	A	9: 22,036,811 (GRCm38)	P19L	probably benign	Het
Fer1l6	T	C	15: 58,571,401 (GRCm38)	S518P	probably benign	Het
Fgd3	T	C	13: 49,266,629 (GRCm38)	S591G	probably benign	Het
Galnt18	C	A	7: 111,472,064 (GRCm38)	R566L	probably benign	Het
Galnt6	A	T	15: 100,696,574 (GRCm38)	Y525*	probably null	Het
Gm10036	A	T	18: 15,833,302 (GRCm38)	Y170F	probably benign	Het
Hacd2	A	G	16: 35,022,551 (GRCm38)	D24G	unknown	Het
Idh3a	T	C	9: 54,596,041 (GRCm38)	M128T	possibly damaging	Het
Ido1	C	T	8: 24,584,549 (GRCm38)	M359I	probably benign	Het
Ikbkb	T	C	8: 22,681,677 (GRCm38)	T185A	probably damaging	Het
Insl6	C	T	19: 29,321,619 (GRCm38)	G131D	probably damaging	Het
Irgm1	A	C	11: 48,866,332 (GRCm38)	S217R	possibly damaging	Het
Itga11	T	A	9: 62,761,568 (GRCm38)	Y702*	probably null	Het
Itgb4	C	T	11: 115,984,157 (GRCm38)	R447W	probably benign	Het
Kansl2	T	C	15: 98,531,843 (GRCm38)	M103V	probably benign	Het
Kcnq2	T	C	2: 181,112,043 (GRCm38)	N258S	possibly damaging	Het
Kdm5d	A	T	Y: 940,624 (GRCm38)	D1045V	probably damaging	Het
Lats2	A	G	14: 57,699,592 (GRCm38)	L480P	probably damaging	Het
Lin28b	T	A	10: 45,420,640 (GRCm38)	K87N	possibly damaging	Het
Lpgat1	T	A	1: 191,719,570 (GRCm38)	W103R	probably damaging	Het
Lpl	G	T	8: 68,894,693 (GRCm38)	G166C	probably damaging	Het
Ly75	A	T	2: 60,352,125 (GRCm38)	Y569N	probably damaging	Het
Mcm8	A	T	2: 132,838,769 (GRCm38)	E564D	probably damaging	Het
Me2	G	T	18: 73,785,776 (GRCm38)	N411K	probably damaging	Het
Mn1	A	G	5: 111,454,786 (GRCm38)	T1297A	possibly damaging	Het
Mphosph8	T	A	14: 56,678,589 (GRCm38)	F447L	probably benign	Het
Nacad	T	A	11: 6,599,169 (GRCm38)	D1294V	probably damaging	Het
Neu3	A	T	7: 99,823,408 (GRCm38)	F41I	probably damaging	Het
Nlrp6	G	T	7: 140,923,584 (GRCm38)	L534F	probably damaging	Het
Nrap	A	G	19: 56,378,143 (GRCm38)	M338T	probably damaging	Het
Nuak1	T	C	10: 84,375,115 (GRCm38)	K370E	probably damaging	Het
Olfr1151	A	G	2: 87,857,288 (GRCm38)	T38A	probably benign	Het
Olfr1425	T	A	19: 12,074,275 (GRCm38)	D119V	probably damaging	Het
Olfr479	T	A	7: 108,055,440 (GRCm38)	C153S	probably benign	Het
Olfr805	C	T	10: 129,722,723 (GRCm38)	V274M	probably damaging	Het
P3h3	T	C	6: 124,841,773 (GRCm38)	S701G	probably benign	Het
Pdss2	T	C	10: 43,298,912 (GRCm38)	M138T	possibly damaging	Het
Piezo1	C	T	8: 122,486,481 (GRCm38)	E1848K	probably benign	Het
Prmt3	T	G	7: 49,826,809 (GRCm38)	S389A	probably benign	Het
Prrxl1	G	T	14: 32,647,144 (GRCm38)		probably benign	Het
Prune2	T	A	19: 17,122,273 (GRCm38)	F1714I	probably benign	Het
Ptgis	A	G	2: 167,225,274 (GRCm38)		probably null	Het
Ptpn20	T	C	14: 33,614,459 (GRCm38)	V85A	probably benign	Het
Rabepk	A	T	2: 34,780,657 (GRCm38)	Y264N	probably damaging	Het
Ralgapa2	A	T	2: 146,434,834 (GRCm38)	C495*	probably null	Het
Satb2	A	G	1: 56,891,168 (GRCm38)	I232T	probably benign	Het
Selenbp2	A	T	3: 94,703,549 (GRCm38)	L307F	probably damaging	Het
Sgpl1	T	G	10: 61,114,084 (GRCm38)	Y112S	probably damaging	Het
Slitrk5	T	C	14: 111,681,247 (GRCm38)	S768P	probably benign	Het
Smc3	T	A	19: 53,631,517 (GRCm38)	Y615N	probably damaging	Het
Spag17	A	G	3: 100,027,623 (GRCm38)	N715S	probably benign	Het
Spats2	A	G	15: 99,212,276 (GRCm38)	E518G	probably benign	Het
Spats2l	A	G	1: 57,885,824 (GRCm38)	H127R	possibly damaging	Het
Tenm3	T	A	8: 48,278,961 (GRCm38)	K1287*	probably null	Het
Thoc1	T	A	18: 9,962,387 (GRCm38)	S91T	probably benign	Het
Thoc6	C	T	17: 23,669,937 (GRCm38)	G166S	probably damaging	Het
Tmem107	C	A	11: 69,071,261 (GRCm38)	T42N	possibly damaging	Het
Tmprss11c	A	G	5: 86,237,710 (GRCm38)	I288T	probably damaging	Het
Tnrc18	A	G	5: 142,739,493 (GRCm38)	F1827S	unknown	Het
Trmt112	C	A	19: 6,910,198 (GRCm38)	T5N	probably damaging	Het
Trp53bp1	A	T	2: 121,270,546 (GRCm38)	M57K	probably benign	Het
Ttbk2	C	A	2: 120,745,150 (GRCm38)	Q1115H	probably damaging	Het
Ttn	A	G	2: 76,944,109 (GRCm38)	M2151T	probably damaging	Het
Ttn	C	A	2: 76,729,645 (GRCm38)	E27725*	probably null	Het
Usp9y	A	T	Y: 1,384,336 (GRCm38)	D727E	probably damaging	Het
Vps13c	A	G	9: 67,873,891 (GRCm38)	T221A	probably damaging	Het
Zbtb20	A	G	16: 43,618,692 (GRCm38)	D725G	probably damaging	Het
Zfp341	A	T	2: 154,626,814 (GRCm38)	I126F	possibly damaging	Het
Zfyve16	C	T	13: 92,513,894 (GRCm38)	A861T	probably damaging	Het

Other mutations in 4921509C19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:4921509C19Rik	APN	2	151,473,533 (GRCm38)	missense	possibly damaging	0.46
IGL02117:4921509C19Rik	APN	2	151,473,546 (GRCm38)	missense	probably benign	0.10
IGL02432:4921509C19Rik	APN	2	151,472,561 (GRCm38)	missense	probably benign	0.18
IGL03025:4921509C19Rik	APN	2	151,473,485 (GRCm38)	missense	possibly damaging	0.82
R0321:4921509C19Rik	UTSW	2	151,472,700 (GRCm38)	missense	probably benign	0.01
R0961:4921509C19Rik	UTSW	2	151,472,766 (GRCm38)	missense	probably benign	0.01
R1272:4921509C19Rik	UTSW	2	151,472,057 (GRCm38)	missense	probably damaging	0.98
R1455:4921509C19Rik	UTSW	2	151,472,904 (GRCm38)	missense	possibly damaging	0.46
R3177:4921509C19Rik	UTSW	2	151,472,100 (GRCm38)	missense	possibly damaging	0.65
R3277:4921509C19Rik	UTSW	2	151,472,100 (GRCm38)	missense	possibly damaging	0.65
R4206:4921509C19Rik	UTSW	2	151,473,515 (GRCm38)	missense	probably benign	0.44
R4655:4921509C19Rik	UTSW	2	151,472,858 (GRCm38)	missense	probably benign	0.03
R4680:4921509C19Rik	UTSW	2	151,473,470 (GRCm38)	missense	probably damaging	1.00
R4684:4921509C19Rik	UTSW	2	151,471,871 (GRCm38)	missense	unknown
R4702:4921509C19Rik	UTSW	2	151,472,589 (GRCm38)	missense	probably benign	0.00
R4867:4921509C19Rik	UTSW	2	151,472,822 (GRCm38)	nonsense	probably null
R5117:4921509C19Rik	UTSW	2	151,472,540 (GRCm38)	missense	probably benign	0.00
R5484:4921509C19Rik	UTSW	2	151,471,931 (GRCm38)	missense	probably benign
R5602:4921509C19Rik	UTSW	2	151,473,539 (GRCm38)	missense	possibly damaging	0.83
R6374:4921509C19Rik	UTSW	2	151,472,880 (GRCm38)	missense	possibly damaging	0.47
R6894:4921509C19Rik	UTSW	2	151,473,307 (GRCm38)	missense	probably damaging	1.00
R7079:4921509C19Rik	UTSW	2	151,473,278 (GRCm38)	missense	probably damaging	1.00
R7109:4921509C19Rik	UTSW	2	151,473,753 (GRCm38)	missense	probably damaging	1.00
R7155:4921509C19Rik	UTSW	2	151,473,569 (GRCm38)	missense	possibly damaging	0.69
R7441:4921509C19Rik	UTSW	2	151,472,925 (GRCm38)	missense	possibly damaging	0.51
R7845:4921509C19Rik	UTSW	2	151,472,309 (GRCm38)	missense	probably damaging	0.96
R7853:4921509C19Rik	UTSW	2	151,473,680 (GRCm38)	missense	probably damaging	1.00
R8773:4921509C19Rik	UTSW	2	151,472,142 (GRCm38)	missense	possibly damaging	0.91
R8805:4921509C19Rik	UTSW	2	151,471,365 (GRCm38)	splice site	probably benign
R8983:4921509C19Rik	UTSW	2	151,471,352 (GRCm38)	missense	unknown
R9257:4921509C19Rik	UTSW	2	151,473,707 (GRCm38)	missense	probably benign	0.05
R9566:4921509C19Rik	UTSW	2	151,472,306 (GRCm38)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- CATTGGGCAAACTGAAGGTG -3'
(R):5'- GGAGGTGATAGCCAAGTTGC -3'

Sequencing Primer
(F):5'- CTGAAGGTGGAATGTGTAGGCAC -3'
(R):5'- TTGCTAACTGTCAACCCTGGAGAG -3'

Posted On

2016-04-27