Mutagenetix > Incidental Mutation

Incidental Mutation 'R7791:4921517D22Rik'

599897

Institutional Source

Beutler Lab

Gene Symbol

4921517D22Rik

Ensembl Gene

ENSMUSG00000049902

Gene Name

RIKEN cDNA 4921517D22 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R7791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59687402-59694108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59690694 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 108 (M108K)

Ref Sequence

ENSEMBL: ENSMUSP00000061773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061597] [ENSMUST00000225373]

AlphaFold

Q8CET0

Predicted Effect

probably benign
Transcript: ENSMUST00000061597
AA Change: M108K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225373
AA Change: M108K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,872,385	V1031D	probably benign	Het
Agap3	C	T	5: 24,476,413	R122C	probably damaging	Het
Arhgap27	A	G	11: 103,339,194		probably null	Het
Atp1a2	T	A	1: 172,276,215	I950F	probably benign	Het
Bahcc1	T	G	11: 120,268,377	H143Q	probably damaging	Het
Bcl7b	T	A	5: 135,171,114	D40E	probably damaging	Het
C9	C	T	15: 6,489,878	R399C	possibly damaging	Het
Capn13	T	C	17: 73,382,888	I43V	possibly damaging	Het
Ctcf	A	G	8: 105,664,939	T289A	possibly damaging	Het
Cux2	T	C	5: 121,867,099	N1008S	probably benign	Het
Dst	T	A	1: 34,154,592	M294K	probably damaging	Het
Eml4	G	T	17: 83,473,706	D778Y	probably benign	Het
Exoc3l4	A	C	12: 111,423,540	D183A	probably damaging	Het
Eya4	A	T	10: 23,113,926	S511T	probably damaging	Het
Fbrsl1	T	C	5: 110,448,019	H50R	probably benign	Het
Gemin5	G	A	11: 58,124,993	P1396S	probably benign	Het
Gm13178	A	G	4: 144,703,445	S325P	probably damaging	Het
Gnb4	A	G	3: 32,590,043	F151L	possibly damaging	Het
Gnptab	A	G	10: 88,440,222		probably null	Het
Gpbp1l1	T	A	4: 116,574,420	W92R	probably damaging	Het
Gucy1b1	A	T	3: 82,035,397	Y479*	probably null	Het
Htr3a	T	A	9: 48,901,575	Q188L	possibly damaging	Het
Ighv5-9-1	A	G	12: 113,736,545	F18S	probably damaging	Het
Loxhd1	A	G	18: 77,383,729	T1004A	probably damaging	Het
Mansc4	G	A	6: 147,081,544	L132F	unknown	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mtor	G	T	4: 148,462,940	R460L	probably benign	Het
Mtus1	A	T	8: 41,083,380	F433Y	possibly damaging	Het
Myoc	T	C	1: 162,649,121	Y465H	probably damaging	Het
N4bp1	A	G	8: 86,853,203	V657A	probably damaging	Het
Ndufv1	A	T	19: 4,011,533		probably null	Het
Nectin1	T	C	9: 43,792,039	I198T	probably benign	Het
Olfr239	T	A	17: 33,199,352	C101*	probably null	Het
Olfr44	T	C	9: 39,484,881	D124G	probably damaging	Het
Padi2	C	T	4: 140,917,596	T47I	probably benign	Het
Pdia4	A	T	6: 47,807,122	I116N	probably damaging	Het
Pkdrej	T	A	15: 85,815,931	I1935L	possibly damaging	Het
Pnpla7	C	A	2: 25,052,066	A1173D	probably damaging	Het
Ralgapa1	A	T	12: 55,741,519	L593Q	probably damaging	Het
Scn5a	A	G	9: 119,543,336	S231P	possibly damaging	Het
Slc13a2	A	G	11: 78,422,064		probably null	Het
Spdl1	A	G	11: 34,813,477	S510P	possibly damaging	Het
Tbxa2r	G	T	10: 81,334,706	*342L	probably null	Het
Tfrc	A	G	16: 32,619,167	K346R	probably benign	Het
Tmem52b	A	G	6: 129,513,003		probably benign	Het
Tsc1	T	C	2: 28,681,948	F844L	probably damaging	Het
Ttc39a	A	G	4: 109,426,347	N158S	probably benign	Het
Ulk4	C	T	9: 121,263,668	E168K	possibly damaging	Het
Vgf	T	C	5: 137,032,031	L349P	unknown	Het
Vil1	T	C	1: 74,428,136	Y681H	probably damaging	Het
Zfp654	A	G	16: 64,783,271	*572R	probably null	Het

Other mutations in 4921517D22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:4921517D22Rik	APN	13	59689476	missense	probably benign	0.00
IGL01516:4921517D22Rik	APN	13	59690734	missense	probably benign	0.00
PIT4677001:4921517D22Rik	UTSW	13	59690491	missense	probably benign	0.12
R0395:4921517D22Rik	UTSW	13	59689656	missense	possibly damaging	0.94
R0579:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R0664:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R0757:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R0758:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R0777:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R0779:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R0814:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R0870:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R0872:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R0873:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1062:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1064:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1149:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1149:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1151:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1152:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1207:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1207:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1285:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1339:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1358:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1359:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1360:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1361:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R1679:4921517D22Rik	UTSW	13	59691598	frame shift	probably null
R4703:4921517D22Rik	UTSW	13	59689528	missense	possibly damaging	0.94
R4785:4921517D22Rik	UTSW	13	59691592	missense	probably benign
R4823:4921517D22Rik	UTSW	13	59690904	missense	probably damaging	0.99
R5054:4921517D22Rik	UTSW	13	59689501	missense	probably damaging	0.97
R6144:4921517D22Rik	UTSW	13	59689533	missense	probably damaging	0.99
R6977:4921517D22Rik	UTSW	13	59691580	missense	possibly damaging	0.66
R7009:4921517D22Rik	UTSW	13	59690810	missense	possibly damaging	0.89
R8319:4921517D22Rik	UTSW	13	59690672	missense	probably benign
R8422:4921517D22Rik	UTSW	13	59691629	start codon destroyed	probably null	0.01
R8520:4921517D22Rik	UTSW	13	59690609	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGGTTCTGAGGAGACATGGC -3'
(R):5'- TAAGGAAGCTCAGGAGACCC -3'

Sequencing Primer
(F):5'- CTGAGGAGACATGGCTTACTG -3'
(R):5'- CTTGAGAAAACCCTGAATGTCTC -3'

Posted On

2019-11-26