Mutagenetix > Incidental Mutation

Incidental Mutation 'R2080:Gm1527'

229402

Institutional Source

Beutler Lab

Gene Symbol

Gm1527

Ensembl Gene

ENSMUSG00000074655

Gene Name

predicted gene 1527

Synonyms

LOC385263

MMRRC Submission

040085-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R2080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28892617-28926724 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28926661 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 637 (C637S)

Ref Sequence

ENSEMBL: ENSMUSP00000096773 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099170]

AlphaFold

Q3V0P3

Predicted Effect

probably benign
Transcript: ENSMUST00000099170
AA Change: C637S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000096773
Gene: ENSMUSG00000074655
AA Change: C637S

Domain	Start	End	E-Value	Type
PH	16	119	2.37e-6	SMART
Pfam:RA	125	214	1.7e-8	PFAM
RhoGAP	300	471	2.8e-29	SMART
transmembrane domain	623	645	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,971,933	D183V	probably damaging	Het
Ambra1	T	A	2: 91,885,719	D858E	probably damaging	Het
Amdhd2	T	C	17: 24,156,604	T370A	probably benign	Het
Amy1	A	G	3: 113,558,094	W449R	probably benign	Het
Aox3	A	T	1: 58,186,280	I1179F	probably benign	Het
Atp10a	C	A	7: 58,824,327	Q1121K	probably damaging	Het
Btaf1	C	T	19: 36,951,148	A123V	probably benign	Het
Car6	T	C	4: 150,198,141	K16E	probably benign	Het
Cgnl1	C	T	9: 71,656,096	D779N	probably benign	Het
Cyp2a4	G	A	7: 26,308,537	R123Q	possibly damaging	Het
D430041D05Rik	C	T	2: 104,156,816	R1895Q	probably damaging	Het
D5Ertd579e	T	A	5: 36,616,206	T282S	probably benign	Het
Dsel	T	C	1: 111,859,962	T948A	probably benign	Het
Ednrb	A	T	14: 103,843,100	I126N	probably damaging	Het
Egln1	A	G	8: 124,948,306	M250T	probably benign	Het
Epb41l3	A	T	17: 69,253,468	I337L	possibly damaging	Het
Epg5	T	C	18: 77,948,745	I219T	probably benign	Het
Gm13030	T	C	4: 138,873,419		probably benign	Het
Hist1h1a	A	G	13: 23,763,949	N78S	possibly damaging	Het
Insrr	T	C	3: 87,814,291	I1168T	possibly damaging	Het
Ireb2	T	C	9: 54,896,552	V509A	possibly damaging	Het
Kmt2c	T	C	5: 25,354,717	D981G	probably damaging	Het
Ktn1	A	G	14: 47,725,960	E1164G	probably damaging	Het
L3hypdh	A	T	12: 72,079,527	V213E	probably damaging	Het
Masp1	T	G	16: 23,491,959	D241A	probably damaging	Het
Mfsd13b	A	G	7: 120,991,824	I1V	probably null	Het
Muc5b	T	C	7: 141,869,754	V4531A	probably benign	Het
Myh2	A	T	11: 67,174,941		probably null	Het
Naip5	A	G	13: 100,221,533	L1065P	probably damaging	Het
Necab1	T	C	4: 15,140,219		probably benign	Het
Nemf	A	G	12: 69,353,786		probably benign	Het
Nfil3	A	T	13: 52,968,033	D278E	possibly damaging	Het
Nup98	T	C	7: 102,180,424	N393S	probably damaging	Het
Ogdh	T	A	11: 6,349,393	M753K	probably benign	Het
Olfr11	A	T	13: 21,639,436	V29E	probably damaging	Het
Olfr1297	C	T	2: 111,621,739	V112M	probably benign	Het
Olfr273	T	C	4: 52,855,568	Y315C	probably benign	Het
Olfr561	T	C	7: 102,775,243	F240L	probably benign	Het
Olfr901	T	A	9: 38,431,082	S267T	probably benign	Het
Pkd2	A	G	5: 104,477,123	K262E	probably benign	Het
Plce1	C	T	19: 38,727,013		probably benign	Het
Ppm1f	T	A	16: 16,923,880	M406K	possibly damaging	Het
Ptgs1	C	T	2: 36,242,847	Q286*	probably null	Het
Scube2	T	C	7: 109,808,505	T743A	possibly damaging	Het
Tipin	T	A	9: 64,290,376	L69*	probably null	Het
Tlk1	T	A	2: 70,738,445	K404N	probably damaging	Het
Tmem59	C	A	4: 107,178,774	L16I	probably damaging	Het
Utrn	T	C	10: 12,737,082	E426G	probably benign	Het
Xdh	A	T	17: 73,909,325	S709T	probably damaging	Het
Yjefn3	T	C	8: 69,889,487	N28D	probably damaging	Het
Zfp598	A	C	17: 24,679,667	D480A	probably damaging	Het

Other mutations in Gm1527

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Gm1527	APN	3	28895588	utr 5 prime	probably benign
IGL02069:Gm1527	APN	3	28926614	missense	possibly damaging	0.53
IGL02794:Gm1527	APN	3	28895680	missense	unknown
IGL03285:Gm1527	APN	3	28920417	missense	probably damaging	1.00
PIT4403001:Gm1527	UTSW	3	28917985	missense	possibly damaging	0.82
R0316:Gm1527	UTSW	3	28915774	missense	probably damaging	1.00
R0487:Gm1527	UTSW	3	28926679	missense	probably benign	0.00
R1411:Gm1527	UTSW	3	28914483	missense	probably benign	0.04
R1458:Gm1527	UTSW	3	28918050	missense	possibly damaging	0.52
R1470:Gm1527	UTSW	3	28915268	missense	possibly damaging	0.82
R1470:Gm1527	UTSW	3	28915268	missense	possibly damaging	0.82
R1476:Gm1527	UTSW	3	28926556	missense	probably benign	0.19
R1523:Gm1527	UTSW	3	28920418	missense	probably damaging	1.00
R1613:Gm1527	UTSW	3	28898853	critical splice donor site	probably null
R1649:Gm1527	UTSW	3	28898731	missense	probably damaging	1.00
R1722:Gm1527	UTSW	3	28921634	missense	probably benign	0.10
R1760:Gm1527	UTSW	3	28895550	splice site	probably benign
R1857:Gm1527	UTSW	3	28903390	missense	probably damaging	0.99
R1981:Gm1527	UTSW	3	28915835	critical splice donor site	probably null
R2063:Gm1527	UTSW	3	28926647	missense	probably benign	0.04
R2115:Gm1527	UTSW	3	28917949	missense	probably benign	0.00
R2440:Gm1527	UTSW	3	28895615	missense	probably damaging	0.98
R3799:Gm1527	UTSW	3	28926596	missense	possibly damaging	0.53
R4012:Gm1527	UTSW	3	28898820	missense	probably benign	0.04
R4132:Gm1527	UTSW	3	28920630	missense	probably benign	0.37
R4234:Gm1527	UTSW	3	28914366	missense	probably damaging	1.00
R4406:Gm1527	UTSW	3	28895725	missense	possibly damaging	0.81
R4528:Gm1527	UTSW	3	28914393	missense	probably damaging	0.99
R4567:Gm1527	UTSW	3	28914407	missense	probably damaging	0.99
R4795:Gm1527	UTSW	3	28920663	missense	possibly damaging	0.56
R4796:Gm1527	UTSW	3	28920663	missense	possibly damaging	0.56
R5127:Gm1527	UTSW	3	28903418	missense	probably damaging	1.00
R5774:Gm1527	UTSW	3	28918090	missense	probably benign	0.22
R5890:Gm1527	UTSW	3	28915395	missense	probably benign	0.03
R6024:Gm1527	UTSW	3	28920603	missense	probably benign	0.10
R7092:Gm1527	UTSW	3	28914547	critical splice donor site	probably null
R7128:Gm1527	UTSW	3	28915311	missense	possibly damaging	0.95
R7197:Gm1527	UTSW	3	28926541	missense	probably null	0.00
R7308:Gm1527	UTSW	3	28902280	missense	probably benign	0.02
R7360:Gm1527	UTSW	3	28914542	nonsense	probably null
R7380:Gm1527	UTSW	3	28920472	missense	probably benign	0.10
R7566:Gm1527	UTSW	3	28920618	missense	probably benign	0.02
R7864:Gm1527	UTSW	3	28926470	missense	probably benign	0.01
R7896:Gm1527	UTSW	3	28921593	splice site	probably null
R8261:Gm1527	UTSW	3	28920600	missense	probably damaging	1.00
R8300:Gm1527	UTSW	3	28926595	missense	possibly damaging	0.96
R9106:Gm1527	UTSW	3	28902291	missense	probably damaging	0.99
R9615:Gm1527	UTSW	3	28915326	missense	probably damaging	0.98
X0021:Gm1527	UTSW	3	28920468	missense	probably damaging	1.00
X0028:Gm1527	UTSW	3	28914500	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TTTACGTTTCACTTAGCAGGAGTC -3'
(R):5'- TCTAGTGGATCTGTCACAAGAATGC -3'

Sequencing Primer
(F):5'- TTCACTTAGCAGGAGTCAATGAACC -3'
(R):5'- TGTCACAAGAATGCAGGTCCCTG -3'

Posted On

2014-09-17