Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Gm5724'

368854

Institutional Source

Beutler Lab

Gene Symbol

Gm5724

Ensembl Gene

ENSMUSG00000084927

Gene Name

predicted gene 5724

Synonyms

MMRRC Submission

042420-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141708118-141773810 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141767562 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 31 (V31A)

Ref Sequence

ENSEMBL: ENSMUSP00000117177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000148411]

AlphaFold

L7N264

Predicted Effect

probably benign
Transcript: ENSMUST00000148411
AA Change: V31A

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117177
Gene: ENSMUSG00000084927
AA Change: V31A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	405	3.4e-26	PFAM
KAZAL	438	484	1.71e0	SMART

Meta Mutation Damage Score

0.1154

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,421,424	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,588,129	E537G	probably damaging	Het
Asic3	C	T	5: 24,415,897	A259V	probably damaging	Het
Bcar1	G	A	8: 111,720,920	Q142*	probably null	Het
Bcas3	T	C	11: 85,509,468	V200A	probably damaging	Het
Cd302	A	T	2: 60,272,149	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984	N387K	probably damaging	Het
Copa	T	A	1: 172,119,321	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,196,139	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,194,485	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,503,992	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,885,337	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,870,177	Y114F	probably benign	Het
Epm2a	A	G	10: 11,390,853	D114G	probably benign	Het
Exoc5	T	C	14: 49,048,900		probably null	Het
Fam135a	G	A	1: 24,029,160	T706I	probably benign	Het
Fasn	A	G	11: 120,811,295	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,596	E255G	probably damaging	Het
Galnt7	A	T	8: 57,545,363	Y311N	probably damaging	Het
Gm13757	A	T	2: 88,446,347	M197K	probably benign	Het
Gm8765	C	G	13: 50,703,239	P971R	probably benign	Het
Grid1	T	C	14: 34,822,622	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933	F331L	probably damaging	Het
Ikbkap	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176		probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kif1a	T	C	1: 93,025,727	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,756,679	F1022L	probably damaging	Het
Med16	G	T	10: 79,900,117	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,645,506		probably benign	Het
Myh7b	G	A	2: 155,623,266	V681I	probably benign	Het
Ndc1	A	G	4: 107,390,222	E409G	probably benign	Het
Necap2	A	G	4: 141,071,601		probably benign	Het
Olfr47	T	A	6: 43,235,695	L29H	probably damaging	Het
Olfr847	C	T	9: 19,375,545	S112N	probably benign	Het
Parp12	G	A	6: 39,117,810	T117I	probably benign	Het
Pars2	C	A	4: 106,654,210	C396*	probably null	Het
Prg4	A	T	1: 150,454,546		probably benign	Het
Prkg2	G	A	5: 98,966,633	T523I	probably damaging	Het
Prph	T	A	15: 99,057,427	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,414,076	Y549H	probably damaging	Het
Rbm12	A	T	2: 156,095,569		probably benign	Het
Reln	T	C	5: 22,344,185	Y75C	probably damaging	Het
Rock2	G	A	12: 16,940,407	R110H	probably damaging	Het
Samd1	G	A	8: 83,999,717	E468K	probably damaging	Het
Samd11	T	A	4: 156,249,465	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,365,726	G37V	probably damaging	Het
Sf1	C	A	19: 6,375,664		probably benign	Het
Slc17a5	T	A	9: 78,574,715	H183L	probably damaging	Het
Smgc	T	A	15: 91,841,454	S13T	probably benign	Het
Snapin	A	G	3: 90,490,785		probably benign	Het
Ssc5d	C	T	7: 4,943,745	P1033S	probably benign	Het
Strn3	T	C	12: 51,650,171	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,196,836	F238L	possibly damaging	Het
Tbck	G	A	3: 132,686,968	V57M	possibly damaging	Het
Tgm3	A	G	2: 130,041,955	D511G	probably benign	Het
Tlr5	T	C	1: 182,973,896	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,620,355		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,358,084	C168Y	probably damaging	Het
Tph2	G	T	10: 115,182,770	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,661,690		probably null	Het
Ttc14	A	T	3: 33,803,149	M215L	probably benign	Het
Ube3c	A	G	5: 29,597,085	N120S	probably benign	Het
Ubr2	A	T	17: 46,930,445	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,900,704	T318A	probably benign	Het
Washc2	T	C	6: 116,258,649	V941A	probably benign	Het
Wdfy3	A	G	5: 101,943,943	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,862,844	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,637,635	D537A	probably benign	Het
Zfp57	A	G	17: 37,010,130	N292S	possibly damaging	Het

Other mutations in Gm5724

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Gm5724	APN	6	141754429	missense	probably benign	0.14
IGL01347:Gm5724	APN	6	141754466	nonsense	probably null
IGL01539:Gm5724	APN	6	141727607	missense	possibly damaging	0.88
IGL01613:Gm5724	APN	6	141713214	missense	possibly damaging	0.67
IGL02060:Gm5724	APN	6	141754408	missense	probably benign	0.00
IGL02063:Gm5724	APN	6	141738889	missense	probably benign	0.01
IGL02126:Gm5724	APN	6	141739013	missense	probably benign	0.29
IGL02214:Gm5724	APN	6	141723185	missense	possibly damaging	0.50
IGL02630:Gm5724	APN	6	141723110	missense	probably damaging	1.00
R0966:Gm5724	UTSW	6	141727573	missense	probably benign	0.00
R1082:Gm5724	UTSW	6	141712133	missense	probably damaging	1.00
R1433:Gm5724	UTSW	6	141765703	missense	probably benign	0.00
R1571:Gm5724	UTSW	6	141754409	nonsense	probably null
R1765:Gm5724	UTSW	6	141754358	splice site	probably benign
R2055:Gm5724	UTSW	6	141725455	missense	probably benign	0.33
R2174:Gm5724	UTSW	6	141727593	nonsense	probably null
R2495:Gm5724	UTSW	6	141765777	missense	probably benign	0.02
R2857:Gm5724	UTSW	6	141744538	missense	probably benign	0.35
R3551:Gm5724	UTSW	6	141708596	missense	probably benign	0.20
R3824:Gm5724	UTSW	6	141754374	missense	possibly damaging	0.50
R3912:Gm5724	UTSW	6	141727636	missense	probably damaging	0.97
R3942:Gm5724	UTSW	6	141727714	missense	probably damaging	0.98
R4161:Gm5724	UTSW	6	141708596	missense	probably benign	0.20
R4168:Gm5724	UTSW	6	141738947	missense	probably benign	0.03
R4395:Gm5724	UTSW	6	141712118	missense	probably benign	0.02
R4720:Gm5724	UTSW	6	141723222	missense	probably damaging	1.00
R4732:Gm5724	UTSW	6	141723179	missense	probably benign	0.01
R4733:Gm5724	UTSW	6	141723179	missense	probably benign	0.01
R5062:Gm5724	UTSW	6	141767454	missense	possibly damaging	0.46
R5389:Gm5724	UTSW	6	141740467	missense	probably benign	0.12
R5419:Gm5724	UTSW	6	141736100	splice site	probably null
R5423:Gm5724	UTSW	6	141744462	missense	probably damaging	1.00
R5704:Gm5724	UTSW	6	141713254	missense	probably benign	0.00
R5973:Gm5724	UTSW	6	141754456	missense	probably benign	0.01
R6041:Gm5724	UTSW	6	141739038	missense	probably benign	0.11
R6284:Gm5724	UTSW	6	141725393	missense	probably damaging	1.00
R6395:Gm5724	UTSW	6	141723092	splice site	probably null
R6993:Gm5724	UTSW	6	141765742	missense	possibly damaging	0.94
R7149:Gm5724	UTSW	6	141744452	missense	probably damaging	1.00
R7159:Gm5724	UTSW	6	141773778	start codon destroyed	probably damaging	1.00
R7627:Gm5724	UTSW	6	141744545	missense	probably damaging	1.00
R7784:Gm5724	UTSW	6	141713193	critical splice donor site	probably null
R7873:Gm5724	UTSW	6	141727722	missense	probably benign	0.44
R8670:Gm5724	UTSW	6	141765742	missense	possibly damaging	0.94
R8720:Gm5724	UTSW	6	141723126	missense	probably benign	0.01
R9124:Gm5724	UTSW	6	141723104	missense	possibly damaging	0.81
R9238:Gm5724	UTSW	6	141740427	missense	probably damaging	0.98
R9381:Gm5724	UTSW	6	141765764	missense	probably benign	0.00
X0020:Gm5724	UTSW	6	141754365	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGATCTCAGTCAGATTAAATGGTC -3'
(R):5'- AGCTAGTCTACCTGCATGTGC -3'

Sequencing Primer
(F):5'- AGCCCAACTGTAGATGTG -3'
(R):5'- GAGGAGAGACTACACTTTAACATTCC -3'

Posted On

2016-02-04