Mutagenetix > Incidental Mutation

Incidental Mutation 'R8300:Gm1527'

639182

Institutional Source

Beutler Lab

Gene Symbol

Gm1527

Ensembl Gene

ENSMUSG00000074655

Gene Name

predicted gene 1527

Synonyms

LOC385263

MMRRC Submission

067788-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28946768-28980874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28980744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 615 (N615Y)

Ref Sequence

ENSEMBL: ENSMUSP00000096773 (fasta)

Gene Model

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

AlphaFold

Q3V0P3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099170
AA Change: N615Y

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096773
Gene: ENSMUSG00000074655
AA Change: N615Y

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	A	G	9: 21,437,561 (GRCm39)	M1V	probably null	Het
Abca12	T	A	1: 71,353,123 (GRCm39)	N773I	possibly damaging	Het
Adh7	A	G	3: 137,929,825 (GRCm39)	E167G	probably damaging	Het
Ank2	T	A	3: 126,804,555 (GRCm39)	D622V		Het
Asf1b	T	A	8: 84,695,805 (GRCm39)	F149I	possibly damaging	Het
Bach1	T	C	16: 87,515,996 (GRCm39)	V179A	probably benign	Het
C1ra	C	T	6: 124,498,597 (GRCm39)	A430V	probably benign	Het
Cacna1c	T	A	6: 118,575,717 (GRCm39)	Q1944L		Het
Camkk1	T	C	11: 72,918,266 (GRCm39)	V158A	probably benign	Het
Ccdc152	T	C	15: 3,327,634 (GRCm39)	T48A	probably benign	Het
Cd180	A	T	13: 102,841,301 (GRCm39)	M116L	probably benign	Het
Clca3a2	C	T	3: 144,804,692 (GRCm39)	G12R	probably benign	Het
Coq8b	T	C	7: 26,941,671 (GRCm39)	V252A	possibly damaging	Het
Cp	A	G	3: 20,011,385 (GRCm39)		probably benign	Het
Ctsj	A	T	13: 61,150,285 (GRCm39)	V238E	probably damaging	Het
Ctsj	C	T	13: 61,150,286 (GRCm39)	V238I	probably damaging	Het
Cxcr2	A	T	1: 74,198,333 (GRCm39)	M276L	probably benign	Het
Drd5	T	C	5: 38,477,672 (GRCm39)	S222P	probably damaging	Het
Egflam	T	C	15: 7,283,932 (GRCm39)	D269G	possibly damaging	Het
Fbn2	C	T	18: 58,342,687 (GRCm39)	R64Q	probably benign	Het
Fyb2	A	T	4: 104,857,689 (GRCm39)	K622M	probably damaging	Het
Gm10220	T	C	5: 26,322,818 (GRCm39)	E198G	probably damaging	Het
Gpatch3	A	G	4: 133,307,140 (GRCm39)	H308R	probably damaging	Het
Gsdmc4	A	G	15: 63,766,790 (GRCm39)	I261T	probably damaging	Het
Gsg1	T	G	6: 135,214,580 (GRCm39)	T310P	probably benign	Het
Hecw2	T	C	1: 53,926,775 (GRCm39)	S1075G	probably null	Het
Hyal6	A	G	6: 24,734,087 (GRCm39)	T7A	probably benign	Het
Ighv1-59	T	G	12: 115,298,987 (GRCm39)	Q22H	probably damaging	Het
Lyst	T	A	13: 13,838,643 (GRCm39)	M1853K	possibly damaging	Het
Maco1	A	G	4: 134,555,762 (GRCm39)	I237T	probably benign	Het
Mccc1	A	T	3: 36,017,753 (GRCm39)	M649K	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nek4	A	G	14: 30,692,352 (GRCm39)	D399G		Het
Obscn	T	C	11: 58,933,896 (GRCm39)	K5323E	probably benign	Het
Or6p1	T	A	1: 174,258,100 (GRCm39)	Y35*	probably null	Het
Paics	T	C	5: 77,109,253 (GRCm39)	V196A	probably damaging	Het
Pced1a	C	A	2: 130,266,157 (GRCm39)		probably benign	Het
Pierce1	A	T	2: 28,352,435 (GRCm39)	Y109*	probably null	Het
Pik3cb	A	G	9: 98,928,711 (GRCm39)	V848A	probably damaging	Het
Ppm1h	T	A	10: 122,618,118 (GRCm39)	N92K	probably damaging	Het
Ppp1r16b	T	A	2: 158,588,571 (GRCm39)	I152N	probably damaging	Het
Pramel7	A	G	2: 87,319,967 (GRCm39)	M442T	probably benign	Het
Prex2	A	T	1: 11,301,942 (GRCm39)	N1415I	possibly damaging	Het
Pum3	T	C	19: 27,399,773 (GRCm39)	K220R	probably benign	Het
Qrich2	G	T	11: 116,347,175 (GRCm39)	D1216E	probably benign	Het
Rbbp8	T	A	18: 11,838,833 (GRCm39)		silent	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rimbp2	C	T	5: 128,874,835 (GRCm39)	R252Q	probably damaging	Het
Rnpep	T	C	1: 135,211,397 (GRCm39)	H117R	probably benign	Het
Serpinb10	A	G	1: 107,474,456 (GRCm39)	D206G	probably benign	Het
Sh3tc1	C	T	5: 35,854,792 (GRCm39)	V1302M	probably benign	Het
Slmap	T	C	14: 26,139,374 (GRCm39)	E780G	possibly damaging	Het
Snrpg	T	A	6: 86,353,558 (GRCm39)	V46E	probably damaging	Het
Spef1l	A	T	7: 139,557,091 (GRCm39)	I98N	probably damaging	Het
Sptbn5	T	A	2: 119,878,058 (GRCm39)	Q953L	noncoding transcript	Het
Stard9	C	T	2: 120,535,250 (GRCm39)	L3836F	possibly damaging	Het
Tcerg1	T	A	18: 42,683,137 (GRCm39)	M619K	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tnfrsf9	C	T	4: 151,017,556 (GRCm39)	T137M	probably damaging	Het
Tpbgl	G	T	7: 99,274,774 (GRCm39)	A361E	probably damaging	Het
Trak1	G	T	9: 121,289,565 (GRCm39)	E626*	probably null	Het
Trio	G	T	15: 27,855,108 (GRCm39)	H750Q	possibly damaging	Het
U2af2	T	C	7: 5,070,414 (GRCm39)		probably benign	Het
Vmn2r3	T	C	3: 64,182,347 (GRCm39)	I451V	probably benign	Het
Zfp930	A	T	8: 69,680,998 (GRCm39)	N230I	probably benign	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
R1722:Gm1527	UTSW	3	28,975,783 (GRCm39)	missense	probably benign	0.10
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
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'- AGTTGCAAGGGATCCACTCC -3'
(R):5'- TGCAGGTCCCTGAGTAACAG -3'

Sequencing Primer
(F):5'- GGGATCCACTCCAACACATATTTG -3'
(R):5'- AAAATACCATTTTTCAAAGGCTATGG -3'

Posted On

2020-07-28