Mutagenetix > Incidental Mutation

Incidental Mutation 'R9757:Gm13078'

732786

Institutional Source

Beutler Lab

Gene Symbol

Gm13078

Ensembl Gene

ENSMUSG00000046435

Gene Name

predicted gene 13078

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R9757 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143719455-143729158 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143728422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 430 (D430G)

Ref Sequence

ENSEMBL: ENSMUSP00000077761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078695]

AlphaFold

A2AGW8

Predicted Effect

probably benign
Transcript: ENSMUST00000078695
AA Change: D430G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000077761
Gene: ENSMUSG00000046435
AA Change: D430G

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	204	412	4e-12	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,465,239	V105A	probably benign	Het
Agrn	C	A	4: 156,176,778	V621L	probably benign	Het
Anapc1	A	G	2: 128,675,756	S323P	probably damaging	Het
Anxa6	T	A	11: 54,994,356	K456*	probably null	Het
C7	G	T	15: 5,045,652	T186K	probably damaging	Het
Cacna1b	T	C	2: 24,719,101	E396G	probably damaging	Het
Ccdc191	C	T	16: 43,941,807	T20I		Het
Ces1b	G	T	8: 93,079,873	P15Q	probably benign	Het
Dnah14	G	T	1: 181,685,784	A1901S	probably benign	Het
Dock3	T	C	9: 107,023,836	H310R	possibly damaging	Het
Eif2ak4	T	G	2: 118,438,917	S23R	probably benign	Het
Gli2	A	G	1: 118,845,922	C485R	probably damaging	Het
Gm17093	T	A	14: 44,521,533	W171R		Het
Ing2	G	A	8: 47,675,040		probably benign	Het
Itpkb	T	C	1: 180,332,807	I166T	probably benign	Het
Kcnj8	T	A	6: 142,570,079	I101F	probably benign	Het
Krtap6-2	C	T	16: 89,420,070	C3Y	unknown	Het
Lep	A	G	6: 29,069,084	I45V	probably benign	Het
Lrrk2	A	T	15: 91,811,026	I2355L	probably benign	Het
Mettl3	C	A	14: 52,299,904	A174S	probably benign	Het
Mmp23	T	C	4: 155,651,058	N317S	probably damaging	Het
Mybpc1	A	T	10: 88,536,395	V777E	probably damaging	Het
Nlrp9b	T	A	7: 20,048,692	C844S	probably damaging	Het
Obscn	T	C	11: 59,001,512	E6823G	probably benign	Het
Olfr220	A	T	1: 174,449,300	I226F	probably damaging	Het
Pcdhb1	A	T	18: 37,267,249	Q751L	probably benign	Het
Pdgfrl	T	A	8: 40,926,417	L16Q	possibly damaging	Het
Pdzph1	A	C	17: 58,974,903	L128*	probably null	Het
Prr36	A	T	8: 4,210,998	S940T	probably damaging	Het
Rad54l2	A	T	9: 106,717,921	I279N	probably damaging	Het
Rasgrp3	A	T	17: 75,500,724	T259S	probably damaging	Het
Rrn3	T	A	16: 13,810,569	I538N	probably damaging	Het
Sdf2l1	A	T	16: 17,130,534	D213E	probably benign	Het
Sorcs3	T	C	19: 48,722,924	Y643H	probably damaging	Het
Sval2	G	T	6: 41,861,840	C4F	possibly damaging	Het
Taldo1	A	G	7: 141,400,350	E131G	probably benign	Het
Tas2r130	T	C	6: 131,630,333	I166M	probably benign	Het
Tmem178	A	G	17: 81,000,860	Y228C	probably damaging	Het
Ttn	A	T	2: 76,782,079	L17188*	probably null	Het
Unc45b	A	G	11: 82,919,732	K273E	probably damaging	Het
Usp32	A	C	11: 85,077,329	Y169*	probably null	Het
Vmn2r9	A	T	5: 108,848,042	Y247N	possibly damaging	Het
Zkscan2	A	T	7: 123,480,087	C882*	probably null	Het

Other mutations in Gm13078

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Gm13078	APN	4	143727015	missense	probably damaging	1.00
IGL01122:Gm13078	APN	4	143728401	missense	probably benign	0.13
IGL02314:Gm13078	APN	4	143728442	missense	probably benign	0.00
IGL03089:Gm13078	APN	4	143726133	missense	probably benign	0.43
IGL03338:Gm13078	APN	4	143726742	missense	probably benign	0.01
R0233:Gm13078	UTSW	4	143726063	missense	possibly damaging	0.71
R0233:Gm13078	UTSW	4	143726063	missense	possibly damaging	0.71
R0349:Gm13078	UTSW	4	143727059	missense	probably benign	0.00
R0681:Gm13078	UTSW	4	143728052	missense	probably benign
R0963:Gm13078	UTSW	4	143727108	missense	possibly damaging	0.50
R1114:Gm13078	UTSW	4	143726855	missense	probably benign	0.01
R2070:Gm13078	UTSW	4	143726902	nonsense	probably null
R2475:Gm13078	UTSW	4	143726825	missense	probably benign	0.14
R3824:Gm13078	UTSW	4	143726685	missense	probably benign	0.00
R4050:Gm13078	UTSW	4	143727122	missense	probably benign	0.01
R4125:Gm13078	UTSW	4	143726280	nonsense	probably null
R4273:Gm13078	UTSW	4	143726846	nonsense	probably null
R4280:Gm13078	UTSW	4	143726022	missense	possibly damaging	0.94
R4921:Gm13078	UTSW	4	143728326	missense	possibly damaging	0.95
R5223:Gm13078	UTSW	4	143728021	missense	probably benign	0.00
R7256:Gm13078	UTSW	4	143726279	missense	probably benign	0.23
R7640:Gm13078	UTSW	4	143726706	missense	probably benign	0.00
R7666:Gm13078	UTSW	4	143728515	missense	probably benign	0.00
R7683:Gm13078	UTSW	4	143726714	nonsense	probably null
R7981:Gm13078	UTSW	4	143726882	missense	probably benign	0.01
R8856:Gm13078	UTSW	4	143726733	missense	probably benign	0.33
R9050:Gm13078	UTSW	4	143726759	missense	probably benign	0.03
R9739:Gm13078	UTSW	4	143728427	missense	possibly damaging	0.94
Z1088:Gm13078	UTSW	4	143727033	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTAAGCTCATGGACTGGC -3'
(R):5'- ATGAGTCACTTGAGACCTGC -3'

Sequencing Primer
(F):5'- CTGTAAGCTCATGGACTGGCAAATC -3'
(R):5'- GAGACCTGCCTTCCATTTGTTAGAAC -3'

Posted On

2022-11-14