Mutagenetix > Incidental Mutation

Incidental Mutation 'R9054:Gm13101'

688557

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 #

R9054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143964518-143966950 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143965744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 229 (Q229R)

Ref Sequence

ENSEMBL: ENSMUSP00000101389 (fasta)

Gene Model

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

AlphaFold

A2ASJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000105763
AA Change: Q229R

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101389
Gene: ENSMUSG00000078510
AA Change: Q229R

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: 99.1%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankef1	T	A	2: 136,553,674	D641E	probably benign	Het
Anln	A	G	9: 22,360,820		probably null	Het
Areg	A	T	5: 91,144,358	E172D	probably damaging	Het
Ccdc51	A	T	9: 109,089,414	T24S	probably benign	Het
Cckar	A	T	5: 53,703,082	I135N	probably damaging	Het
Cdca7	CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA	CGAGGAAGAGGAGGAGGAAGAGGA	2: 72,483,477		probably benign	Het
Cep295	T	C	9: 15,324,255	H2056R	possibly damaging	Het
Chrnb2	T	C	3: 89,757,255	K451E	probably damaging	Het
Ctnna2	C	T	6: 76,942,266	R663Q	probably benign	Het
Cyp4f37	A	T	17: 32,634,279	I406F	probably benign	Het
Eml4	T	A	17: 83,427,211		probably benign	Het
Fkrp	G	T	7: 16,810,644	T431K	probably damaging	Het
Fsip2	A	T	2: 82,975,836	Y833F	possibly damaging	Het
Galnt2	T	C	8: 124,332,098		probably null	Het
Gm8180	T	A	14: 43,782,349		probably null	Het
Gm8882	G	C	6: 132,361,893	Q121E	unknown	Het
Hcn1	T	C	13: 117,971,635	S552P	unknown	Het
Ifit1	A	C	19: 34,648,487	E341A	possibly damaging	Het
Iyd	A	G	10: 3,540,250		probably benign	Het
Krt72	A	T	15: 101,786,401	S20T	probably damaging	Het
Lemd2	G	T	17: 27,204,095	D108E	probably benign	Het
Lipn	A	T	19: 34,076,976	I205F	possibly damaging	Het
Nat1	G	T	8: 67,491,071	R36L	probably benign	Het
Nebl	A	T	2: 17,411,096	M334K	possibly damaging	Het
Nectin4	A	T	1: 171,386,783	N502I	probably damaging	Het
Nrp1	G	A	8: 128,487,908	V626I	probably benign	Het
Olfr160	C	T	9: 37,711,908	V124M	probably damaging	Het
Olfr692	A	G	7: 105,368,473	Y49C	probably damaging	Het
Oprm1	G	A	10: 6,823,914		probably benign	Het
Pde2a	A	G	7: 101,507,720	Y637C	probably damaging	Het
Pde4d	T	C	13: 109,935,390	V306A	probably damaging	Het
Pdzd9	G	A	7: 120,670,275		probably benign	Het
Pitpnm3	T	A	11: 72,056,191	D810V	probably damaging	Het
Pkd1l3	A	T	8: 109,665,672	H1966L	probably benign	Het
Pmfbp1	C	T	8: 109,521,029	T319I	possibly damaging	Het
Psg18	T	A	7: 18,353,525	R69S	possibly damaging	Het
Ptprg	A	T	14: 12,213,638	Q1002L	possibly damaging	Het
Ptprj	T	C	2: 90,460,640	Y585C	probably damaging	Het
Rad51c	T	C	11: 87,402,716	T105A	probably benign	Het
Rbm12	A	T	2: 156,095,561	D930E	unknown	Het
Rlf	A	C	4: 121,150,587	S509A	possibly damaging	Het
Slc39a3	C	A	10: 81,033,665	G53C	probably damaging	Het
Smchd1	G	A	17: 71,363,022	Q1685*	probably null	Het
Sprr2d	A	C	3: 92,340,408	E52A	unknown	Het
Stat1	A	G	1: 52,142,927	N355S	probably damaging	Het
Tmem30b	T	C	12: 73,546,149	E64G	probably benign	Het
Ttll11	A	T	2: 35,979,380	V82D	probably benign	Het
Ttn	T	A	2: 76,740,633	T26639S	probably damaging	Het
Usp53	A	T	3: 122,934,076	N952K	probably benign	Het
Vmn1r199	T	A	13: 22,383,554	H339Q	possibly damaging	Het
Vps13b	G	A	15: 35,422,391	D166N	probably damaging	Het
Zfp954	C	A	7: 7,116,098	C149F	probably benign	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
R7526:Gm13101	UTSW	4	143965817	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
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'- GCTGTGGAATCAGAAAGAACTC -3'
(R):5'- AGAGAAGAGGTTTCCTGCACC -3'

Sequencing Primer
(F):5'- GAGCAATTCATTCATGTGGCCAG -3'
(R):5'- CACCTGTGCTGTATGAAGATGCAG -3'

Posted On

2021-11-19