Mutagenetix > Incidental Mutation

Incidental Mutation 'R1722:Gm1527'

191526

Institutional Source

Beutler Lab

Gene Symbol

Gm1527

Ensembl Gene

ENSMUSG00000074655

Gene Name

predicted gene 1527

Synonyms

LOC385263

MMRRC Submission

039754-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1722 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28946768-28980874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28975783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 557 (H557Y)

Ref Sequence

ENSEMBL: ENSMUSP00000096773 (fasta)

Gene Model

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

AlphaFold

Q3V0P3

Predicted Effect

probably benign
Transcript: ENSMUST00000099170
AA Change: H557Y

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096773
Gene: ENSMUSG00000074655
AA Change: H557Y

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	A	T	2: 103,824,273 (GRCm39)		probably null	Het
Adss1	A	T	12: 112,602,915 (GRCm39)	I346F	possibly damaging	Het
Ahnak	T	A	19: 8,988,019 (GRCm39)	L3101H	probably damaging	Het
Aldh3b3	A	G	19: 4,014,871 (GRCm39)	I123V	possibly damaging	Het
Angptl1	C	T	1: 156,684,655 (GRCm39)	P275S	possibly damaging	Het
Apoa5	C	T	9: 46,181,847 (GRCm39)	Q308*	probably null	Het
Arhgef12	T	C	9: 42,932,013 (GRCm39)	*106W	probably null	Het
Atp2c1	A	G	9: 105,316,599 (GRCm39)	Y485H	probably benign	Het
Atp6v1b1	C	T	6: 83,720,074 (GRCm39)	T3I	possibly damaging	Het
Btbd7	A	T	12: 102,778,913 (GRCm39)	I451N	possibly damaging	Het
Clasp1	T	G	1: 118,518,194 (GRCm39)	L1080R	probably damaging	Het
Clec4f	A	G	6: 83,623,915 (GRCm39)	V408A	probably benign	Het
Clint1	T	A	11: 45,797,233 (GRCm39)	M438K	possibly damaging	Het
Cuzd1	A	T	7: 130,913,373 (GRCm39)	Y415N	probably damaging	Het
Ddias	A	G	7: 92,509,250 (GRCm39)	F222L	possibly damaging	Het
Efcab7	A	T	4: 99,757,815 (GRCm39)	T321S	probably benign	Het
Elp3	A	T	14: 65,788,846 (GRCm39)	D393E	probably benign	Het
Fbn2	T	C	18: 58,181,124 (GRCm39)		probably null	Het
Fcgr3	T	C	1: 170,881,688 (GRCm39)	R146G	possibly damaging	Het
Fkrp	G	A	7: 16,544,719 (GRCm39)	A381V	probably benign	Het
Gatad2b	T	G	3: 90,262,986 (GRCm39)	I476S	probably damaging	Het
Gm2431	A	T	7: 141,811,599 (GRCm39)	C102S	unknown	Het
Hoxd13	A	G	2: 74,500,389 (GRCm39)	N310S	probably benign	Het
Il9	T	A	13: 56,627,208 (GRCm39)	T135S	probably benign	Het
Ints4	A	C	7: 97,162,786 (GRCm39)	N476T	probably benign	Het
Kcnq4	A	C	4: 120,559,624 (GRCm39)	D525E	probably benign	Het
Kncn	A	T	4: 115,743,096 (GRCm39)	Y57F	probably damaging	Het
Lpl	TGG	TG	8: 69,349,254 (GRCm39)		probably null	Het
Lrrfip2	A	G	9: 111,028,829 (GRCm39)	T351A	probably damaging	Het
Madd	T	C	2: 90,997,982 (GRCm39)	E682G	probably benign	Het
Marchf7	A	C	2: 60,064,526 (GRCm39)	R267S	probably damaging	Het
Mmp16	T	A	4: 18,051,767 (GRCm39)	L252Q	probably damaging	Het
Mri1	A	T	8: 84,980,554 (GRCm39)	V296D	possibly damaging	Het
Myo3a	A	G	2: 22,404,638 (GRCm39)	T665A	probably benign	Het
N4bp2	T	C	5: 65,964,225 (GRCm39)	V758A	probably benign	Het
Nbea	T	C	3: 55,573,116 (GRCm39)	D2489G	probably damaging	Het
Neb	T	C	2: 52,146,757 (GRCm39)	T2836A	probably damaging	Het
Nedd4l	T	A	18: 65,291,010 (GRCm39)	V203E	probably damaging	Het
Nkpd1	C	A	7: 19,257,846 (GRCm39)	Q392K	possibly damaging	Het
Nploc4	G	T	11: 120,273,395 (GRCm39)	A576E	probably benign	Het
Nxph1	T	A	6: 9,247,516 (GRCm39)	N162K	probably damaging	Het
Or3a1	T	C	11: 74,225,271 (GRCm39)	Y262C	probably damaging	Het
Or7c70	T	A	10: 78,682,805 (GRCm39)	T315S	probably benign	Het
Pabpc2	T	G	18: 39,908,169 (GRCm39)	I478S	probably benign	Het
Pde7b	G	T	10: 20,311,990 (GRCm39)	H190Q	probably damaging	Het
Plekha2	A	T	8: 25,532,976 (GRCm39)	S332T	probably benign	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rasl11a	A	T	5: 146,782,052 (GRCm39)	H9L	probably benign	Het
Rer1	A	T	4: 155,159,458 (GRCm39)	F177I	probably damaging	Het
Rinl	T	C	7: 28,491,669 (GRCm39)	L74P	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Rttn	T	C	18: 88,991,655 (GRCm39)	V78A	probably benign	Het
Skint5	A	T	4: 113,703,508 (GRCm39)		probably null	Het
Tenm2	A	C	11: 35,898,930 (GRCm39)	Y2743D	probably damaging	Het
Tmem101	T	C	11: 102,045,519 (GRCm39)	Y110C	probably damaging	Het
Trim9	T	C	12: 70,295,148 (GRCm39)	N658S	probably benign	Het
Ucp1	A	T	8: 84,017,317 (GRCm39)	T36S	probably benign	Het
Vmn2r43	A	G	7: 8,258,067 (GRCm39)	I382T	probably damaging	Het
Zfp142	C	T	1: 74,608,935 (GRCm39)	R1620Q	probably damaging	Het
Zfp386	T	C	12: 116,023,526 (GRCm39)	S380P	probably damaging	Het

Other mutations in Gm1527

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Gm1527	APN	3	28,949,737 (GRCm39)	utr 5 prime	probably benign
IGL02069:Gm1527	APN	3	28,980,763 (GRCm39)	missense	possibly damaging	0.53
IGL02794:Gm1527	APN	3	28,949,829 (GRCm39)	missense	unknown
IGL03285:Gm1527	APN	3	28,974,566 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Gm1527	UTSW	3	28,972,134 (GRCm39)	missense	possibly damaging	0.82
R0316:Gm1527	UTSW	3	28,969,923 (GRCm39)	missense	probably damaging	1.00
R0487:Gm1527	UTSW	3	28,980,828 (GRCm39)	missense	probably benign	0.00
R1411:Gm1527	UTSW	3	28,968,632 (GRCm39)	missense	probably benign	0.04
R1458:Gm1527	UTSW	3	28,972,199 (GRCm39)	missense	possibly damaging	0.52
R1470:Gm1527	UTSW	3	28,969,417 (GRCm39)	missense	possibly damaging	0.82
R1470:Gm1527	UTSW	3	28,969,417 (GRCm39)	missense	possibly damaging	0.82
R1476:Gm1527	UTSW	3	28,980,705 (GRCm39)	missense	probably benign	0.19
R1523:Gm1527	UTSW	3	28,974,567 (GRCm39)	missense	probably damaging	1.00
R1613:Gm1527	UTSW	3	28,953,002 (GRCm39)	critical splice donor site	probably null
R1649:Gm1527	UTSW	3	28,952,880 (GRCm39)	missense	probably damaging	1.00
R1760:Gm1527	UTSW	3	28,949,699 (GRCm39)	splice site	probably benign
R1857:Gm1527	UTSW	3	28,957,539 (GRCm39)	missense	probably damaging	0.99
R1981:Gm1527	UTSW	3	28,969,984 (GRCm39)	critical splice donor site	probably null
R2063:Gm1527	UTSW	3	28,980,796 (GRCm39)	missense	probably benign	0.04
R2080:Gm1527	UTSW	3	28,980,810 (GRCm39)	missense	probably benign	0.01
R2115:Gm1527	UTSW	3	28,972,098 (GRCm39)	missense	probably benign	0.00
R2440:Gm1527	UTSW	3	28,949,764 (GRCm39)	missense	probably damaging	0.98
R3799:Gm1527	UTSW	3	28,980,745 (GRCm39)	missense	possibly damaging	0.53
R4012:Gm1527	UTSW	3	28,952,969 (GRCm39)	missense	probably benign	0.04
R4132:Gm1527	UTSW	3	28,974,779 (GRCm39)	missense	probably benign	0.37
R4234:Gm1527	UTSW	3	28,968,515 (GRCm39)	missense	probably damaging	1.00
R4406:Gm1527	UTSW	3	28,949,874 (GRCm39)	missense	possibly damaging	0.81
R4528:Gm1527	UTSW	3	28,968,542 (GRCm39)	missense	probably damaging	0.99
R4567:Gm1527	UTSW	3	28,968,556 (GRCm39)	missense	probably damaging	0.99
R4795:Gm1527	UTSW	3	28,974,812 (GRCm39)	missense	possibly damaging	0.56
R4796:Gm1527	UTSW	3	28,974,812 (GRCm39)	missense	possibly damaging	0.56
R5127:Gm1527	UTSW	3	28,957,567 (GRCm39)	missense	probably damaging	1.00
R5774:Gm1527	UTSW	3	28,972,239 (GRCm39)	missense	probably benign	0.22
R5890:Gm1527	UTSW	3	28,969,544 (GRCm39)	missense	probably benign	0.03
R6024:Gm1527	UTSW	3	28,974,752 (GRCm39)	missense	probably benign	0.10
R7092:Gm1527	UTSW	3	28,968,696 (GRCm39)	critical splice donor site	probably null
R7128:Gm1527	UTSW	3	28,969,460 (GRCm39)	missense	possibly damaging	0.95
R7197:Gm1527	UTSW	3	28,980,690 (GRCm39)	missense	probably null	0.00
R7308:Gm1527	UTSW	3	28,956,429 (GRCm39)	missense	probably benign	0.02
R7360:Gm1527	UTSW	3	28,968,691 (GRCm39)	nonsense	probably null
R7380:Gm1527	UTSW	3	28,974,621 (GRCm39)	missense	probably benign	0.10
R7566:Gm1527	UTSW	3	28,974,767 (GRCm39)	missense	probably benign	0.02
R7864:Gm1527	UTSW	3	28,980,619 (GRCm39)	missense	probably benign	0.01
R7896:Gm1527	UTSW	3	28,975,742 (GRCm39)	splice site	probably null
R8261:Gm1527	UTSW	3	28,974,749 (GRCm39)	missense	probably damaging	1.00
R8300:Gm1527	UTSW	3	28,980,744 (GRCm39)	missense	possibly damaging	0.96
R9106:Gm1527	UTSW	3	28,956,440 (GRCm39)	missense	probably damaging	0.99
R9615:Gm1527	UTSW	3	28,969,475 (GRCm39)	missense	probably damaging	0.98
X0021:Gm1527	UTSW	3	28,974,617 (GRCm39)	missense	probably damaging	1.00
X0028:Gm1527	UTSW	3	28,968,649 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGAGTTGCTCTTGGCTCTTCAATCAG -3'
(R):5'- GCGGGGCACTTCCAAAGATTCATTTC -3'

Sequencing Primer
(F):5'- GGGCCATATACAGCTATCTAGCTATC -3'
(R):5'- ctctctctctctctctctctctctc -3'

Posted On

2014-05-14