Mutagenetix > Incidental Mutation

Incidental Mutation 'R7855:Gm21994'

607171

Institutional Source

Beutler Lab

Gene Symbol

Gm21994

Ensembl Gene

ENSMUSG00000074735

Gene Name

predicted gene 21994

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.297) question?

Stock #

R7855 (G1)

Quality Score

153.008

Status

Not validated

Chromosome

Chromosomal Location

150254518-150255591 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 150255146 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 121 (R121Q)

Ref Sequence

ENSEMBL: ENSMUSP00000075719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063463] [ENSMUST00000109922]

AlphaFold

F6T2D2

Predicted Effect

probably benign
Transcript: ENSMUST00000063463
AA Change: R121Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000075719
Gene: ENSMUSG00000074735
AA Change: R121Q

Domain	Start	End	E-Value	Type
ZnF_C2H2	1	18	2.7e2	SMART
ZnF_C2H2	53	73	2.75e1	SMART
ZnF_C2H2	77	99	6.42e-4	SMART
ZnF_C2H2	132	154	1.58e-3	SMART
ZnF_C2H2	160	182	1.12e-3	SMART
ZnF_C2H2	188	210	4.01e-5	SMART
ZnF_C2H2	216	238	3.16e-3	SMART
ZnF_C2H2	244	266	8.94e-3	SMART
ZnF_C2H2	272	294	9.58e-3	SMART
ZnF_C2H2	300	322	1.95e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109922

SMART Domains

Protein: ENSMUSP00000105548
Gene: ENSMUSG00000079008

Domain	Start	End	E-Value	Type
KRAB	4	66	9.26e-19	SMART
ZnF_C2H2	103	125	7.49e-5	SMART
ZnF_C2H2	131	151	9.46e0	SMART
ZnF_C2H2	159	181	5.9e-3	SMART
ZnF_C2H2	187	209	6.67e-2	SMART
ZnF_C2H2	215	237	4.87e-4	SMART
ZnF_C2H2	243	265	2.82e0	SMART
ZnF_C2H2	271	293	2.2e2	SMART
ZnF_C2H2	299	321	1.4e-4	SMART
ZnF_C2H2	327	349	1.6e-4	SMART
ZnF_C2H2	355	377	1.18e-2	SMART
ZnF_C2H2	383	405	1.38e-3	SMART
ZnF_C2H2	411	433	9.56e1	SMART
ZnF_C2H2	439	461	6.99e-5	SMART
ZnF_C2H2	467	489	2.99e-4	SMART
ZnF_C2H2	495	517	7.78e-3	SMART
ZnF_C2H2	523	545	1.04e-3	SMART
ZnF_C2H2	551	573	1.6e-4	SMART
ZnF_C2H2	579	601	1.18e-2	SMART
ZnF_C2H2	607	629	4.54e-4	SMART
ZnF_C2H2	635	657	4.24e-4	SMART
ZnF_C2H2	663	685	1.2e-3	SMART
ZnF_C2H2	691	713	8.47e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	T	A	19: 7,422,256	I456N	probably damaging	Het
Abca6	A	T	11: 110,191,628	V1173D	probably benign	Het
Ace	A	T	11: 105,972,379	M327L	probably benign	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bicdl2	C	T	17: 23,666,017	Q231*	probably null	Het
Brms1l	A	T	12: 55,866,053	D277V	possibly damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Col6a3	G	T	1: 90,810,621	P1059T	possibly damaging	Het
Coro1c	A	T	5: 113,848,597	M262K	probably benign	Het
Cpxm2	G	T	7: 132,057,695	P481Q	possibly damaging	Het
Dnah12	G	T	14: 26,829,329	V2543F	probably benign	Het
Dock2	A	C	11: 34,273,698	D1145E	probably damaging	Het
Elf3	G	A	1: 135,254,352	R364W	probably damaging	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Epha3	A	G	16: 63,773,560	I55T	probably damaging	Het
Fam69c	G	A	18: 84,730,046		probably benign	Het
Gfer	C	A	17: 24,694,285	D198Y	probably damaging	Het
Gm10436	A	T	12: 88,176,083	I450N	probably benign	Het
Gm11568	A	T	11: 99,858,184	T72S	unknown	Het
Gm5415	A	C	1: 32,546,033	I265M	probably damaging	Het
Igkv3-1	C	T	6: 70,704,069	A84V	probably benign	Het
Il1rl2	A	C	1: 40,343,119	Y197S	probably damaging	Het
Il2ra	T	C	2: 11,680,336	I161T	possibly damaging	Het
Itgb8	C	T	12: 119,166,772	R667H	probably benign	Het
Kcnh7	G	A	2: 62,837,194	Q334*	probably null	Het
Lctl	A	C	9: 64,133,216	R480S	possibly damaging	Het
Lrba	T	G	3: 86,315,430	I617S	possibly damaging	Het
Marf1	G	T	16: 14,114,201	H1651N	probably benign	Het
Mitf	T	A	6: 97,993,196	Y142N	probably damaging	Het
Olfr569	A	G	7: 102,887,628	V175A	probably benign	Het
Olfr620	T	A	7: 103,611,772	I194F	possibly damaging	Het
Pecam1	A	G	11: 106,671,750	V708A	probably benign	Het
Pinlyp	C	T	7: 24,542,440		probably null	Het
Polh	G	A	17: 46,175,248	R382W	probably damaging	Het
Prdm10	A	G	9: 31,327,474	I221V	probably benign	Het
Pskh1	G	T	8: 105,913,090	R134L	probably benign	Het
Ptpre	A	G	7: 135,651,995	N6D	probably benign	Het
Rasgrp4	C	T	7: 29,150,610	P58L	unknown	Het
Rhbdf2	G	T	11: 116,602,240	C393*	probably null	Het
Rlf	T	C	4: 121,182,691	I174M	possibly damaging	Het
Ryr2	T	A	13: 11,706,623	R2641*	probably null	Het
Simc1	A	G	13: 54,524,832	H331R	probably benign	Het
Skp2	A	G	15: 9,122,241	S256P	probably benign	Het
Smarcd2	T	C	11: 106,267,566	R10G	probably benign	Het
Spef2	A	G	15: 9,687,895	L480P	possibly damaging	Het
Tenm4	A	G	7: 96,873,874	H1541R	probably damaging	Het
Top1	T	A	2: 160,714,088	L489Q	probably damaging	Het
Ttll13	C	T	7: 80,254,097	H258Y	probably damaging	Het
Unc80	A	G	1: 66,483,349	R237G	possibly damaging	Het
Vmn1r55	A	G	7: 5,146,624	F267L	probably benign	Het
Vmn2r96	T	A	17: 18,597,868	M761K	possibly damaging	Het
Vps33a	G	A	5: 123,570,979	H58Y	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp467	T	C	6: 48,439,181	Q179R	probably damaging	Het
Zfp729a	A	T	13: 67,619,948	S721T	possibly damaging	Het

Other mutations in Gm21994

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6648_Gm21994_337	UTSW	2	150255177	missense	probably benign	0.01
R0853:Gm21994	UTSW	2	150255478	missense	probably benign	0.30
R5135:Gm21994	UTSW	2	150255490	nonsense	probably null
R5161:Gm21994	UTSW	2	150255215	missense	probably damaging	0.99
R5782:Gm21994	UTSW	2	150255518	missense	probably benign	0.41
R6019:Gm21994	UTSW	2	150255212	missense	probably damaging	1.00
R6284:Gm21994	UTSW	2	150255278	missense	possibly damaging	0.95
R6476:Gm21994	UTSW	2	150255326	missense	probably benign	0.00
R6479:Gm21994	UTSW	2	150254591	missense	probably damaging	0.99
R6648:Gm21994	UTSW	2	150255177	missense	probably benign	0.01
R6736:Gm21994	UTSW	2	150255278	missense	possibly damaging	0.95
R6963:Gm21994	UTSW	2	150255345	missense	probably damaging	1.00
R7014:Gm21994	UTSW	2	150255262	nonsense	probably null
R7138:Gm21994	UTSW	2	150255452	missense	probably damaging	1.00
R7625:Gm21994	UTSW	2	150254600	missense	probably benign	0.05
R8145:Gm21994	UTSW	2	150254535	missense	probably benign	0.00
R8284:Gm21994	UTSW	2	150255356	unclassified	probably benign
R9712:Gm21994	UTSW	2	150254576	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CACATTGGTTACACTCGTAGGG -3'
(R):5'- AGACTTTGTATCTCACAGGTCTCTC -3'

Sequencing Primer
(F):5'- GGTTACACTCGTAGGGTTTCTCAC -3'
(R):5'- GTATCTCACAGGTCTCTCCAAAGG -3'

Posted On

2019-12-20