Mutagenetix > Incidental Mutation

Incidental Mutation 'R6449:Gm5592'

519292

Institutional Source

Beutler Lab

Gene Symbol

Gm5592

Ensembl Gene

ENSMUSG00000072259

Gene Name

predicted gene 5592

Synonyms

MMRRC Submission

044585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6449 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41153841-41290183 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41288586 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 431 (V431I)

Ref Sequence

ENSEMBL: ENSMUSP00000145899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097044] [ENSMUST00000206490]

AlphaFold

Q3V0A6

Predicted Effect

probably benign
Transcript: ENSMUST00000097044
AA Change: V431I

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: V431I

Domain	Start	End	E-Value	Type
Pfam:DUF4629	435	580	6.1e-60	PFAM
low complexity region	607	612	N/A	INTRINSIC
low complexity region	708	725	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206040

Predicted Effect

probably benign
Transcript: ENSMUST00000206490
AA Change: V431I

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.6%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,625,874	Q334*	probably null	Het
Adam28	T	C	14: 68,630,667	T410A	probably benign	Het
Ano10	T	C	9: 122,201,688		probably benign	Het
Bmpr2	T	A	1: 59,867,437	V563E	probably damaging	Het
Ccdc47	A	G	11: 106,204,985	L295P	probably damaging	Het
Cdhr1	T	C	14: 37,090,597	T210A	probably benign	Het
Col16a1	G	A	4: 130,066,693	A408T	unknown	Het
Csnk1g2	A	G	10: 80,640,072	K415R	probably damaging	Het
Cyp2c29	G	T	19: 39,290,867	A103S	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dsg1b	A	T	18: 20,394,441	I210F	possibly damaging	Het
Fhod1	T	A	8: 105,330,237	D1002V	probably damaging	Het
Gm5538	A	T	3: 59,745,551	D137V	probably damaging	Het
Gtpbp4	A	T	13: 8,990,737	C174*	probably null	Het
Il2ra	A	G	2: 11,680,362	K170E	probably benign	Het
Itch	T	C	2: 155,163,395		probably benign	Het
Jazf1	A	C	6: 52,777,655	D145E	probably damaging	Het
Kank2	G	T	9: 21,780,562	A469E	possibly damaging	Het
Kirrel3	A	G	9: 34,990,973	I125V	probably benign	Het
Klra9	G	T	6: 130,179,032	Y253*	probably null	Het
Krtap27-1	C	T	16: 88,671,053	S201N	probably benign	Het
Map3k20	T	C	2: 72,398,414	S326P	probably damaging	Het
Mkks	C	A	2: 136,874,286	V565F	probably damaging	Het
Olfr1131	T	C	2: 87,629,149	S229P	possibly damaging	Het
Olfr175-ps1	A	T	16: 58,824,526	I61N	probably damaging	Het
Olfr368	A	G	2: 37,331,825	D26G	possibly damaging	Het
Pacsin3	A	T	2: 91,260,169		probably null	Het
Pdcd7	A	G	9: 65,356,775	E434G	probably damaging	Het
Plekhb2	T	C	1: 34,864,483	F102L	probably benign	Het
Ppp1r9a	A	G	6: 5,057,458	D191G	probably benign	Het
Psmd3	A	G	11: 98,685,640	T123A	probably benign	Het
Ptprq	C	T	10: 107,705,583	V361M	probably benign	Het
Raver2	A	G	4: 101,133,672	D414G	probably benign	Het
Rnf123	G	A	9: 108,056,053	H1162Y	probably benign	Het
Sema4f	A	G	6: 82,917,870	V448A	probably benign	Het
Tcf12	A	T	9: 71,868,268	M400K	probably damaging	Het
Tcl1b2	G	T	12: 105,153,002	E50*	probably null	Het
Thada	A	C	17: 84,429,173	D893E	probably benign	Het
Trim24	G	A	6: 37,903,652		probably null	Het
Ttll5	T	C	12: 86,024,276	S1308P	probably benign	Het
Ubtfl1	T	A	9: 18,409,629	I151N	possibly damaging	Het
Vmn2r70	A	T	7: 85,564,949	F332I	probably damaging	Het
Wdyhv1	T	G	15: 58,150,598		probably null	Het
Zfhx4	A	G	3: 5,242,428	D238G	probably damaging	Het
Zfp639	A	G	3: 32,519,661	H145R	possibly damaging	Het

Other mutations in Gm5592

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Gm5592	APN	7	41289095	missense	probably damaging	1.00
IGL01472:Gm5592	APN	7	41286074	splice site	probably benign
IGL01718:Gm5592	APN	7	41289193	missense	probably damaging	0.99
IGL01981:Gm5592	APN	7	41286371	nonsense	probably null
IGL02318:Gm5592	APN	7	41286788	missense	probably benign	0.37
IGL02346:Gm5592	APN	7	41289465	missense	probably damaging	0.97
IGL02904:Gm5592	APN	7	41288386	missense	probably damaging	1.00
I1329:Gm5592	UTSW	7	41286354	nonsense	probably null
R0465:Gm5592	UTSW	7	41156057	intron	probably benign
R0669:Gm5592	UTSW	7	41155830	intron	probably benign
R0675:Gm5592	UTSW	7	41289387	missense	possibly damaging	0.81
R1381:Gm5592	UTSW	7	41286172	missense	probably benign
R1731:Gm5592	UTSW	7	41288413	missense	probably damaging	0.99
R3149:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3150:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3176:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3177:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3276:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3277:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3623:Gm5592	UTSW	7	41157628	intron	probably benign
R3797:Gm5592	UTSW	7	41157835	intron	probably benign
R3854:Gm5592	UTSW	7	41157835	intron	probably benign
R3856:Gm5592	UTSW	7	41157835	intron	probably benign
R4009:Gm5592	UTSW	7	41289510	missense	probably benign	0.01
R4010:Gm5592	UTSW	7	41286628	missense	probably benign	0.05
R4011:Gm5592	UTSW	7	41289510	missense	probably benign	0.01
R4127:Gm5592	UTSW	7	41289067	missense	probably benign	0.00
R4162:Gm5592	UTSW	7	41217778	intron	probably benign
R4289:Gm5592	UTSW	7	41158912	intron	probably benign
R4304:Gm5592	UTSW	7	41286262	missense	probably benign	0.20
R4332:Gm5592	UTSW	7	41216118	intron	probably benign
R4408:Gm5592	UTSW	7	41286448	missense	probably benign	0.04
R4572:Gm5592	UTSW	7	41216159	intron	probably benign
R4764:Gm5592	UTSW	7	41216118	intron	probably benign
R4822:Gm5592	UTSW	7	41155890	intron	probably benign
R4836:Gm5592	UTSW	7	41215534	intron	probably benign
R4854:Gm5592	UTSW	7	41217471	intron	probably benign
R5032:Gm5592	UTSW	7	41289735	missense	probably damaging	1.00
R5075:Gm5592	UTSW	7	41158963	intron	probably benign
R5369:Gm5592	UTSW	7	41218211	intron	probably benign
R5424:Gm5592	UTSW	7	41155593	intron	probably benign
R5700:Gm5592	UTSW	7	41158579	intron	probably benign
R5741:Gm5592	UTSW	7	41289201	missense	probably benign
R5802:Gm5592	UTSW	7	41219105	intron	probably benign
R5945:Gm5592	UTSW	7	41215612	intron	probably benign
R6117:Gm5592	UTSW	7	41288464	missense	probably benign	0.00
R6324:Gm5592	UTSW	7	41286535	missense	probably damaging	0.98
R6571:Gm5592	UTSW	7	41288575	missense	probably damaging	0.98
R6776:Gm5592	UTSW	7	41289729	missense	probably damaging	1.00
R7595:Gm5592	UTSW	7	41286443	missense	probably damaging	0.99
R7658:Gm5592	UTSW	7	41288710	missense	probably benign	0.03
R7699:Gm5592	UTSW	7	41286407	missense	probably damaging	1.00
R7700:Gm5592	UTSW	7	41286407	missense	probably damaging	1.00
R7774:Gm5592	UTSW	7	41289859	missense	probably damaging	1.00
R7788:Gm5592	UTSW	7	41286694	missense	probably benign	0.01
R7890:Gm5592	UTSW	7	41286759	missense	probably damaging	1.00
R8070:Gm5592	UTSW	7	41286463	missense	possibly damaging	0.76
R8417:Gm5592	UTSW	7	41288551	missense	probably benign	0.38
R8866:Gm5592	UTSW	7	41288822	missense	possibly damaging	0.74
R9044:Gm5592	UTSW	7	41288850	missense	probably benign	0.25
R9057:Gm5592	UTSW	7	41289463	missense	possibly damaging	0.93
R9258:Gm5592	UTSW	7	41288983	missense	possibly damaging	0.56
R9451:Gm5592	UTSW	7	41286452	missense	probably damaging	0.99
R9760:Gm5592	UTSW	7	41289810	missense	possibly damaging	0.57
X0021:Gm5592	UTSW	7	41288508	missense	probably benign	0.01
Z1176:Gm5592	UTSW	7	41286317	missense	probably damaging	1.00
Z1176:Gm5592	UTSW	7	41286319	missense	possibly damaging	0.94
Z1176:Gm5592	UTSW	7	41288681	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGCCTGATTCTGATAATGCCC -3'
(R):5'- GGATTTGTTCTGTGGCCCAC -3'

Sequencing Primer
(F):5'- AGCCTGATTCTGATAATGCCCATTTG -3'
(R):5'- TTCTTGCTGGGAGGCCC -3'

Posted On

2018-05-24