Mutagenetix > Incidental Mutations

Incidental Mutation 'R8456:Gm10436'

655039

Institutional Source

Beutler Lab

Gene Symbol

Gm10436

Ensembl Gene

ENSMUSG00000066027

Gene Name

predicted gene 10436

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R8456 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88175589-88182108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88177216 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 284 (T284S)

Ref Sequence

ENSEMBL: ENSMUSP00000071508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071580] [ENSMUST00000220521] [ENSMUST00000222081] [ENSMUST00000223172]

Predicted Effect

probably benign
Transcript: ENSMUST00000071580
AA Change: T284S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: T284S

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	247	445	5e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220521
AA Change: T89S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000221884

Predicted Effect

probably benign
Transcript: ENSMUST00000222081
AA Change: T276S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000222391

Predicted Effect

probably benign
Transcript: ENSMUST00000222556

Predicted Effect

probably benign
Transcript: ENSMUST00000223172

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 80,006,526	E1098G	probably benign	Het
Akap1	T	A	11: 88,834,731		probably null	Het
Arhgap26	T	C	18: 39,111,848	V182A	possibly damaging	Het
Arhgef19	A	G	4: 141,250,615	K545R	probably benign	Het
Asph	C	T	4: 9,537,722	R352Q	probably benign	Het
B3glct	T	A	5: 149,726,789	I119N	probably damaging	Het
Camsap3	C	T	8: 3,600,679	R236*	probably null	Het
Ccser2	A	T	14: 36,890,374	M792K	probably benign	Het
Ceacam5	C	T	7: 17,745,699	T247I	possibly damaging	Het
Dnah9	A	G	11: 66,156,938	S19P	probably damaging	Het
Dtwd1	A	G	2: 126,158,531	E129G	probably damaging	Het
Ebf3	T	A	7: 137,199,187	M490L	probably benign	Het
Erbb4	A	G	1: 68,071,630	L1008S	probably damaging	Het
Ereg	C	T	5: 91,090,134	P160S	possibly damaging	Het
Exoc6b	ATTT	ATTTT	6: 84,844,095		probably null	Het
Fmn1	A	G	2: 113,365,040	T362A	unknown	Het
Gm14326	A	T	2: 177,948,519	D16E	probably benign	Het
H1foo	A	T	6: 115,948,784	M181L	probably benign	Het
Herc6	A	T	6: 57,598,563	T190S	probably benign	Het
Hist1h3a	A	T	13: 23,762,100	F85Y	probably damaging	Het
Ikbkap	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176		probably benign	Het
Lama1	T	G	17: 67,737,496	I130S		Het
Letm2	T	C	8: 25,581,713	D391G	probably damaging	Het
Map3k9	T	C	12: 81,734,118	I423V	probably damaging	Het
Melk	T	A	4: 44,312,191	C168S	possibly damaging	Het
Naa16	A	T	14: 79,359,475	N356K	probably benign	Het
Nup214	A	G	2: 32,039,360	N1873S	probably benign	Het
Olfr1392	C	T	11: 49,293,558	P79L	probably damaging	Het
Olfr890	T	A	9: 38,143,685	C178*	probably null	Het
Pom121	A	G	5: 135,381,178	F1042L	unknown	Het
Pxdn	T	C	12: 30,011,890	S1334P	probably damaging	Het
Ranbp1	C	T	16: 18,245,306	E69K	probably damaging	Het
Rasl11a	T	C	5: 146,845,235	S7P	probably damaging	Het
Rev1	G	A	1: 38,059,243	R740*	probably null	Het
Rnf157	C	T	11: 116,349,420	V443M	probably benign	Het
Scn3a	T	A	2: 65,460,673	T1910S	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sh2b1	C	CAGCCACGGGGCCTAGCTA	7: 126,467,600		probably null	Het
Siah2	T	C	3: 58,676,082	N261S	probably benign	Het
Sumf2	T	G	5: 129,860,162	W264G	possibly damaging	Het
Tal1	G	T	4: 115,063,428	A100S	probably benign	Het
Tmprss9	A	G	10: 80,894,417	D717G	possibly damaging	Het
Tox2	G	T	2: 163,204,630	R9L	unknown	Het
Traj46	A	G	14: 54,172,338	E1G		Het
Uhrf1bp1l	A	G	10: 89,812,092	T1339A	probably benign	Het
Unc80	A	G	1: 66,641,629	D2128G	possibly damaging	Het
Usp21	A	T	1: 171,284,717	F308I	probably damaging	Het
Vgf	A	T	5: 137,032,411	I476F	probably damaging	Het
Vps35	G	A	8: 85,261,305	T739I	possibly damaging	Het
Wdr95	G	T	5: 149,579,107	C279F	probably damaging	Het
Zbtb32	T	C	7: 30,589,956	S94G	unknown	Het
Zdhhc13	T	A	7: 48,802,999	I153N	probably damaging	Het

Other mutations in Gm10436

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Gm10436	APN	12	88177112	missense	probably benign	0.35
IGL01391:Gm10436	APN	12	88178455	missense	possibly damaging	0.84
IGL01432:Gm10436	APN	12	88176432	missense	probably benign	0.44
IGL01519:Gm10436	APN	12	88177561	missense	probably benign	0.00
IGL01784:Gm10436	APN	12	88176315	missense	probably benign
IGL02121:Gm10436	APN	12	88178472	missense	possibly damaging	0.83
IGL02728:Gm10436	APN	12	88176022	missense	probably benign	0.17
R0336:Gm10436	UTSW	12	88178191	missense	probably benign	0.20
R0554:Gm10436	UTSW	12	88177558	missense	probably benign	0.10
R1279:Gm10436	UTSW	12	88175880	missense	probably benign	0.42
R1832:Gm10436	UTSW	12	88178448	missense	possibly damaging	0.73
R1833:Gm10436	UTSW	12	88178448	missense	possibly damaging	0.73
R1900:Gm10436	UTSW	12	88177260	missense	probably benign	0.02
R2412:Gm10436	UTSW	12	88177110	missense	probably damaging	0.98
R3040:Gm10436	UTSW	12	88178348	missense	probably benign	0.00
R3625:Gm10436	UTSW	12	88175961	missense	probably benign	0.06
R4078:Gm10436	UTSW	12	88175913	missense	probably benign	0.38
R4270:Gm10436	UTSW	12	88178283	missense	probably damaging	1.00
R4271:Gm10436	UTSW	12	88178283	missense	probably damaging	1.00
R5318:Gm10436	UTSW	12	88176228	missense	probably benign	0.01
R5552:Gm10436	UTSW	12	88178365	missense	probably benign	0.03
R5601:Gm10436	UTSW	12	88176047	missense	probably damaging	1.00
R5881:Gm10436	UTSW	12	88176341	missense	probably damaging	1.00
R5973:Gm10436	UTSW	12	88175913	missense	probably benign	0.02
R6058:Gm10436	UTSW	12	88177225	missense	possibly damaging	0.91
R6488:Gm10436	UTSW	12	88177587	missense	possibly damaging	0.87
R6656:Gm10436	UTSW	12	88175993	missense	possibly damaging	0.89
R7307:Gm10436	UTSW	12	88181749	missense	probably damaging	1.00
R7332:Gm10436	UTSW	12	88176417	missense	possibly damaging	0.72
R7544:Gm10436	UTSW	12	88176080	missense	probably benign	0.00
R7569:Gm10436	UTSW	12	88176315	missense	probably benign
R7645:Gm10436	UTSW	12	88176258	missense	probably damaging	1.00
R7752:Gm10436	UTSW	12	88175999	missense	probably damaging	1.00
R7855:Gm10436	UTSW	12	88176083	missense	probably benign	0.03
R7860:Gm10436	UTSW	12	88176352	missense	possibly damaging	0.89
R8113:Gm10436	UTSW	12	88177080	missense	probably benign	0.00
R8356:Gm10436	UTSW	12	88177216	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGATTATCAAGGACTCCCTAGC -3'
(R):5'- CATACTTGTTGCAGTGGGCC -3'

Sequencing Primer
(F):5'- AGAAAAGTGATGTGTTTTCTCTGGTC -3'
(R):5'- GGCCCAGCAGAGAAAAGATTCTATTC -3'

Posted On

2020-10-20