Mutagenetix > Incidental Mutation

Incidental Mutation 'R6478:Gm7356'

516939

Institutional Source

Beutler Lab

Gene Symbol

Gm7356

Ensembl Gene

ENSMUSG00000101361

Gene Name

predicted gene 7356

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R6478 (G1)

Quality Score

179.009

Status

Not validated

Chromosome

Chromosomal Location

14000239-14001765 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14001464 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 101 (M101K)

Ref Sequence

ENSEMBL: ENSMUSP00000140965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000186636]

AlphaFold

A0A087WSA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000186636
AA Change: M101K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140965
Gene: ENSMUSG00000101361
AA Change: M101K

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
S_TKc	28	276	3.71e-91	SMART
UBA	296	333	1.35e-2	SMART
low complexity region	436	451	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

95% (75/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	G	14: 49,773,332	V306A	possibly damaging	Het
9530053A07Rik	C	G	7: 28,155,373	P1808R	probably damaging	Het
Aatk	T	A	11: 120,010,991	S803C	probably benign	Het
Abcc9	C	T	6: 142,679,308	A454T	probably damaging	Het
Abr	T	C	11: 76,452,332	E565G	probably damaging	Het
Adam33	C	A	2: 131,051,346	R753L	probably benign	Het
Adgre1	A	G	17: 57,401,955	T49A	possibly damaging	Het
AI314180	A	T	4: 58,810,785	I1524N	probably damaging	Het
Ankra2	A	T	13: 98,268,442	H153L	probably damaging	Het
Ankrd26	T	G	6: 118,511,638	E1353D	probably benign	Het
Ankrd52	T	G	10: 128,379,331		probably null	Het
Arhgef10l	T	A	4: 140,542,757	T619S	possibly damaging	Het
Asgr1	T	C	11: 70,056,894	V130A	possibly damaging	Het
Atg10	C	A	13: 90,937,347	C161F	probably damaging	Het
Atm	A	T	9: 53,490,254	N1438K	probably damaging	Het
BC107364	T	A	3: 96,436,006		probably null	Het
Bcar3	G	T	3: 122,426,576	A41S	probably benign	Het
Btbd6	A	G	12: 112,977,312		probably benign	Het
Cchcr1	A	G	17: 35,524,703	T318A	possibly damaging	Het
Celsr1	A	T	15: 85,925,518	I2221N	probably damaging	Het
Cept1	C	T	3: 106,533,445	W48*	probably null	Het
Cfap161	T	A	7: 83,793,276	I85L	probably benign	Het
Clasp1	A	T	1: 118,512,180	R640*	probably null	Het
Col5a1	T	A	2: 27,952,436	I441N	unknown	Het
Col9a1	C	A	1: 24,185,405	L223I	unknown	Het
Dnah2	T	C	11: 69,516,010	D223G	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dpy19l1	A	T	9: 24,450,696	M129K	possibly damaging	Het
Fcrl1	C	A	3: 87,389,639	H318Q	probably benign	Het
Fer1l5	A	G	1: 36,402,531	N609S	probably damaging	Het
Fkbp4	C	T	6: 128,433,231	E256K	probably damaging	Het
Fsip2	A	G	2: 82,990,086	T5388A	possibly damaging	Het
Glrx	G	A	13: 75,847,299		probably null	Het
Gm6614	A	T	6: 141,993,642	N208K	possibly damaging	Het
Gstp2	A	T	19: 4,040,499	I162N	probably benign	Het
Hectd3	A	C	4: 116,999,586	K443N	probably damaging	Het
Hmcn1	T	A	1: 150,664,784	R2925W	probably damaging	Het
Hspa1a	G	T	17: 34,970,306	N540K	probably damaging	Het
Ints6	A	T	14: 62,700,786	M649K	probably benign	Het
Katnb1	T	C	8: 95,095,456	V270A	possibly damaging	Het
Kctd3	A	G	1: 188,972,364	S737P	probably benign	Het
Klra10	T	C	6: 130,272,544		probably null	Het
Lmtk3	A	G	7: 45,798,589	D1353G	unknown	Het
Lrrk1	A	G	7: 66,262,733	V1693A	probably damaging	Het
Mpnd	A	T	17: 56,009,575	I85F	probably damaging	Het
Myo3b	A	G	2: 70,348,960	T1173A	probably benign	Het
Myof	G	A	19: 37,903,831	P1158L	probably damaging	Het
Naip2	A	C	13: 100,162,041	S496A	probably benign	Het
Ncor2	A	G	5: 125,110,005		probably benign	Het
Npepps	C	T	11: 97,258,273		probably null	Het
Olfr1247	T	G	2: 89,609,446	I219L	probably damaging	Het
Opn5	T	A	17: 42,580,749	I266F	probably benign	Het
P2rx4	A	G	5: 122,707,700	D16G	probably damaging	Het
Padi2	G	T	4: 140,917,637	V61L	probably benign	Het
Pkd1l1	G	A	11: 8,863,911	T1480I	probably benign	Het
Plcb1	T	C	2: 135,335,451	S568P	probably damaging	Het
Rassf10	A	G	7: 112,955,707	E505G	probably damaging	Het
Rcan2	A	G	17: 43,836,334	E21G	probably benign	Het
Rhob	G	T	12: 8,499,585	C16*	probably null	Het
Ryr3	T	C	2: 112,660,068	N3807S	probably damaging	Het
Sass6	T	A	3: 116,621,397	N519K	probably benign	Het
Smad9	A	T	3: 54,782,443	D28V	probably damaging	Het
Tepp	A	T	8: 95,321,266		probably null	Het
Tex14	G	T	11: 87,514,373	G704C	probably benign	Het
Tmc3	A	G	7: 83,622,316	N892S	probably benign	Het
Tnfaip2	T	A	12: 111,445,663	L166Q	probably damaging	Het
Triml2	A	G	8: 43,185,128		probably null	Het
Trio	A	G	15: 27,856,107	V666A	probably benign	Het
Tshz2	G	T	2: 169,884,664	L393F	probably damaging	Het
Ttn	T	G	2: 76,841,771		probably benign	Het
Tubb5	A	G	17: 35,835,842	Y159H	probably damaging	Het
Umodl1	A	G	17: 30,959,155	Y35C	probably damaging	Het
Utp4	T	C	8: 106,904,446		probably null	Het
Vmn1r60	A	T	7: 5,544,865	C79S	probably damaging	Het
Wnt5b	T	C	6: 119,433,790	T230A	probably damaging	Het
Zfp618	A	T	4: 63,132,706	I575F	probably damaging	Het
Zmym6	G	T	4: 127,123,383	V894L	possibly damaging	Het
Zpbp	T	C	11: 11,462,318		probably benign	Het

Other mutations in Gm7356

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02719:Gm7356	APN	17	14001275	missense	probably damaging	1.00
PIT4504001:Gm7356	UTSW	17	14001458	missense	probably damaging	1.00
R4533:Gm7356	UTSW	17	14001410	missense	probably damaging	1.00
R4912:Gm7356	UTSW	17	14001236	missense	possibly damaging	0.82
R5125:Gm7356	UTSW	17	14001314	missense	probably damaging	1.00
R5208:Gm7356	UTSW	17	14001194	missense	probably damaging	1.00
R5342:Gm7356	UTSW	17	14001098	missense	possibly damaging	0.55
R5688:Gm7356	UTSW	17	14000607	missense	possibly damaging	0.79
R6002:Gm7356	UTSW	17	14000739	missense	probably benign	0.00
R6932:Gm7356	UTSW	17	14001663	missense	probably damaging	1.00
R6939:Gm7356	UTSW	17	14001125	missense	probably benign	0.01
R7291:Gm7356	UTSW	17	14001581	missense	probably benign	0.06
R7480:Gm7356	UTSW	17	14001065	missense	possibly damaging	0.74
R8157:Gm7356	UTSW	17	14001321	missense	probably damaging	1.00
R8305:Gm7356	UTSW	17	14001437	missense	probably benign	0.15
R8936:Gm7356	UTSW	17	14001675	missense	probably benign	0.00
R9068:Gm7356	UTSW	17	14001425	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- CTTGGGTACTAAGCCCAAAGTCG -3'
(R):5'- CTTATGCCAAGGTCCTCCTG -3'

Sequencing Primer
(F):5'- GCCCAAAGTCGATTATTTTGATGCTC -3'
(R):5'- AAGGTCCTCCTGGCCCAG -3'

Posted On

2018-05-21