Mutagenetix > Incidental Mutation

Incidental Mutation 'R7526:Gm13101'

582979

Institutional Source

Beutler Lab

Gene Symbol

Gm13101

Ensembl Gene

ENSMUSG00000078510

Gene Name

predicted gene 13101

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143964518-143966950 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143965817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 205 (C205S)

Ref Sequence

ENSEMBL: ENSMUSP00000101389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105763]

AlphaFold

A2ASJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000105763
AA Change: C205S

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

SMART Domains

Protein: ENSMUSP00000101389
Gene: ENSMUSG00000078510
AA Change: C205S

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	414	2e-9	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,152,981	F85I	unknown	Het
Ankrd22	A	T	19: 34,149,365	W22R	possibly damaging	Het
Aqr	A	T	2: 114,108,109	H1287Q	probably damaging	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atp8b5	A	G	4: 43,366,609	E791G	probably damaging	Het
Bicd1	T	G	6: 149,513,726	S646A	possibly damaging	Het
Bmpr1b	A	T	3: 141,856,599	Y276N	probably damaging	Het
Cadps2	T	C	6: 23,496,851	H465R	probably damaging	Het
Card11	A	T	5: 140,913,429		probably null	Het
Ccdc9	A	G	7: 16,282,400	L139P	probably damaging	Het
Cdk5rap3	A	T	11: 96,909,945	M355K	probably benign	Het
Cnot2	A	T	10: 116,507,080	V116E	probably benign	Het
Defb48	A	G	14: 62,977,831	V32A	possibly damaging	Het
Dmkn	A	G	7: 30,777,651	D460G	possibly damaging	Het
Dmxl2	A	G	9: 54,400,957	V2170A	possibly damaging	Het
Dnah1	A	T	14: 31,287,876	F1912I	possibly damaging	Het
Dok3	C	T	13: 55,527,493	V71I	probably benign	Het
Dzip3	A	T	16: 48,975,474	F178Y	probably damaging	Het
Enpp1	T	C	10: 24,674,410		probably null	Het
Eogt	A	G	6: 97,113,952	F409L	probably damaging	Het
Erich6	A	T	3: 58,630,689	L218H	probably damaging	Het
Fam186a	G	C	15: 99,941,915	I2149M	possibly damaging	Het
Fat1	G	A	8: 45,023,427	V1837I	probably damaging	Het
Flrt3	T	A	2: 140,660,206	T501S	probably damaging	Het
Fmn1	A	C	2: 113,688,134	E1365D	probably damaging	Het
Fzd5	G	T	1: 64,736,092	P170Q	probably benign	Het
Gm14326	G	A	2: 177,946,505	H233Y	probably damaging	Het
Gm19410	G	A	8: 35,790,612	V735M	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm2832	A	T	14: 41,280,962	I143L		Het
Gm7534	T	C	4: 134,200,073		probably null	Het
Greb1	G	A	12: 16,716,765	T344I	probably benign	Het
Grik2	A	T	10: 49,523,822	Y271N	possibly damaging	Het
Grin3b	A	G	10: 79,973,051	N212D	probably benign	Het
Hgsnat	A	G	8: 25,971,049	L187P	probably damaging	Het
Hmcn1	A	G	1: 150,656,573	I3152T	probably damaging	Het
Hsp90aa1	A	T	12: 110,695,294	I96N	unknown	Het
Il18r1	T	A	1: 40,471,772	L6I	probably damaging	Het
Ing3	G	A	6: 21,953,799	V80I	probably damaging	Het
Kif18b	T	C	11: 102,914,667	I255V	probably damaging	Het
Kif2c	A	T	4: 117,182,432	N20K	possibly damaging	Het
Mfsd6l	T	C	11: 68,558,038	W572R	probably damaging	Het
Mybphl	A	G	3: 108,374,180	T71A	probably benign	Het
Myo7a	G	T	7: 98,085,448	T613K	possibly damaging	Het
Nfatc3	T	C	8: 106,079,083	S195P	probably damaging	Het
Nrg1	T	C	8: 31,818,323	N603S	probably benign	Het
Olfr1054	A	T	2: 86,333,353	M1K	probably null	Het
Olfr1084	A	G	2: 86,639,669	I13T	possibly damaging	Het
Olfr629	T	C	7: 103,740,400	Y280C	probably damaging	Het
Parp8	T	C	13: 116,894,805	E457G	probably damaging	Het
Pclo	T	C	5: 14,521,062	F154L	probably benign	Het
Pear1	A	G	3: 87,752,568	S704P	probably damaging	Het
Pkib	A	G	10: 57,736,298	T92A	probably benign	Het
Pnpla7	A	G	2: 24,998,666	R376G	possibly damaging	Het
Ptprd	T	A	4: 76,066,327	E527D	probably benign	Het
Pum1	T	C	4: 130,747,026	V469A	probably damaging	Het
Rnf148	G	A	6: 23,654,284	Q238*	probably null	Het
Scn9a	A	C	2: 66,483,646	N1909K	probably benign	Het
Sema3c	A	T	5: 17,727,596	H699L	possibly damaging	Het
Sema3f	A	T	9: 107,689,728	C201S	probably damaging	Het
Serinc2	T	A	4: 130,258,790	D206V	probably benign	Het
Serping1	A	T	2: 84,767,293	S415T	probably benign	Het
Sirpb1b	A	T	3: 15,548,872	L50Q	probably damaging	Het
Slc25a22	T	C	7: 141,431,383	E262G	probably benign	Het
Slc5a8	A	G	10: 88,902,491	I205M	probably damaging	Het
Sod2	G	T	17: 13,008,031		probably benign	Het
Tec	T	C	5: 72,786,019	I118V	probably benign	Het
Tenm3	A	T	8: 48,287,812	V1212E	probably damaging	Het
Tex44	G	A	1: 86,426,515	V49I	probably benign	Het
Tmem132d	A	T	5: 127,784,141	L972*	probably null	Het
Tpte	G	A	8: 22,325,547		probably null	Het
Trim6	T	A	7: 104,232,832	I456N	probably damaging	Het
Ubr4	G	C	4: 139,422,417	V520L	probably benign	Het
Ubxn8	A	T	8: 33,633,607	N101K	probably benign	Het
Vmn2r60	AG	A	7: 42,195,734		probably null	Het
Vmn2r83	A	G	10: 79,491,558	T667A	probably damaging	Het

Other mutations in Gm13101

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Gm13101	APN	4	143966614	splice site	probably benign
IGL00688:Gm13101	APN	4	143965822	missense	possibly damaging	0.62
IGL00690:Gm13101	APN	4	143965822	missense	possibly damaging	0.62
IGL00693:Gm13101	APN	4	143965822	missense	possibly damaging	0.62
IGL00694:Gm13101	APN	4	143965822	missense	possibly damaging	0.62
IGL01412:Gm13101	APN	4	143964995	missense	probably damaging	1.00
IGL01781:Gm13101	APN	4	143965729	missense	probably benign
IGL02426:Gm13101	APN	4	143966659	missense	possibly damaging	0.75
IGL02508:Gm13101	APN	4	143965020	missense	probably benign	0.13
IGL03338:Gm13101	APN	4	143965841	missense	probably benign	0.01
IGL03338:Gm13101	APN	4	143966038	missense	probably benign	0.03
R0201:Gm13101	UTSW	4	143964890	missense	probably damaging	1.00
R0325:Gm13101	UTSW	4	143966740	missense	probably damaging	1.00
R0538:Gm13101	UTSW	4	143965083	missense	possibly damaging	0.76
R1471:Gm13101	UTSW	4	143964953	missense	probably benign	0.25
R1544:Gm13101	UTSW	4	143966062	missense	probably benign	0.00
R1891:Gm13101	UTSW	4	143966665	missense	probably damaging	1.00
R2012:Gm13101	UTSW	4	143966067	missense	probably benign	0.00
R2105:Gm13101	UTSW	4	143965820	missense	probably benign
R2939:Gm13101	UTSW	4	143966677	missense	probably benign	0.00
R2940:Gm13101	UTSW	4	143966677	missense	probably benign	0.00
R3723:Gm13101	UTSW	4	143966681	missense	probably benign
R3952:Gm13101	UTSW	4	143965786	nonsense	probably null
R4028:Gm13101	UTSW	4	143965784	missense	probably benign	0.02
R4029:Gm13101	UTSW	4	143965784	missense	probably benign	0.02
R4030:Gm13101	UTSW	4	143965784	missense	probably benign	0.02
R5059:Gm13101	UTSW	4	143964995	missense	probably damaging	0.99
R5222:Gm13101	UTSW	4	143964792	missense	possibly damaging	0.55
R5591:Gm13101	UTSW	4	143964960	missense	probably damaging	1.00
R5677:Gm13101	UTSW	4	143965138	missense	possibly damaging	0.59
R6021:Gm13101	UTSW	4	143965766	missense	probably benign
R6042:Gm13101	UTSW	4	143966061	missense	probably benign	0.04
R6155:Gm13101	UTSW	4	143965142	missense	probably benign	0.00
R6604:Gm13101	UTSW	4	143965997	missense	probably benign	0.02
R6807:Gm13101	UTSW	4	143965011	missense	probably damaging	1.00
R7244:Gm13101	UTSW	4	143965885	missense	probably benign
R7505:Gm13101	UTSW	4	143964986	missense	probably benign	0.00
R8121:Gm13101	UTSW	4	143965041	missense	probably benign	0.01
R8408:Gm13101	UTSW	4	143965642	missense	probably benign
R8890:Gm13101	UTSW	4	143964924	missense	probably benign	0.10
R8989:Gm13101	UTSW	4	143965200	missense	probably benign	0.04
R9054:Gm13101	UTSW	4	143965744	missense	probably benign	0.18
R9622:Gm13101	UTSW	4	143965778	missense	probably benign	0.00
Z1088:Gm13101	UTSW	4	143965562	missense	probably benign
Z1177:Gm13101	UTSW	4	143965591	missense	probably benign	0.42
Z1177:Gm13101	UTSW	4	143965775	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTTGGGGAACTGAGAAATGACC -3'
(R):5'- ACGCCCTCATAGATATGCAC -3'

Sequencing Primer
(F):5'- CTGAGAAATGACCTTGATGACGCTC -3'
(R):5'- GCCCTCATAGATATGCACTAAGGAG -3'

Posted On

2019-10-17