Mutagenetix > Incidental Mutation

Incidental Mutation 'R2440:Gm1527'

249753

Institutional Source

Beutler Lab

Gene Symbol

Gm1527

Ensembl Gene

ENSMUSG00000074655

Gene Name

predicted gene 1527

Synonyms

LOC385263

Accession Numbers

Essential gene?

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

Stock #

R2440 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28946768-28980874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28949764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 8 (D8G)

Ref Sequence

ENSEMBL: ENSMUSP00000096773 (fasta)

Gene Model

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

AlphaFold

Q3V0P3

Predicted Effect

probably damaging
Transcript: ENSMUST00000099170
AA Change: D8G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096773
Gene: ENSMUSG00000074655
AA Change: D8G

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,888,129 (GRCm39)	T104A	probably benign	Het
Adar	A	G	3: 89,642,161 (GRCm39)	H14R	possibly damaging	Het
Albfm1	A	G	5: 90,720,548 (GRCm39)		probably null	Het
Alcam	T	A	16: 52,125,976 (GRCm39)	M114L	probably damaging	Het
Ccn4	T	A	15: 66,784,706 (GRCm39)	D126E	possibly damaging	Het
Cntn5	A	G	9: 10,171,960 (GRCm39)	Y75H	possibly damaging	Het
Coch	T	C	12: 51,643,345 (GRCm39)	S122P	probably damaging	Het
Cyp2c69	T	C	19: 39,864,738 (GRCm39)	K247E	probably benign	Het
Gpat3	C	T	5: 101,005,039 (GRCm39)	P58L	probably benign	Het
Itga8	G	A	2: 12,183,491 (GRCm39)	T751I	possibly damaging	Het
Kif5a	A	G	10: 127,067,205 (GRCm39)	V904A	probably benign	Het
Lpgat1	A	G	1: 191,492,321 (GRCm39)	E269G	probably benign	Het
Or12j5	T	A	7: 140,083,465 (GRCm39)	K302N	probably benign	Het
Pde4d	A	G	13: 110,063,731 (GRCm39)		probably benign	Het
Rita1	T	C	5: 120,748,004 (GRCm39)	Y98C	probably damaging	Het
Surf1	A	G	2: 26,803,919 (GRCm39)		probably null	Het
Sv2c	A	G	13: 96,185,084 (GRCm39)	Y198H	probably damaging	Het
Svs3a	T	C	2: 164,131,551 (GRCm39)	F41L	possibly damaging	Het
Tigd2	A	G	6: 59,186,980 (GRCm39)		probably benign	Het
Tubb4a	C	A	17: 57,393,285 (GRCm39)	G38W	probably damaging	Het
Tyrp1	G	A	4: 80,764,843 (GRCm39)	V7I	probably benign	Het
Unc45a	A	G	7: 79,978,805 (GRCm39)	Y615H	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
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
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'- TAGGGAAGGTCAGAGTGTTCATATG -3'
(R):5'- GTGGAGGAGGTTCACCAAAC -3'

Sequencing Primer
(F):5'- TTTCATGCAGGTATACCATAT -3'
(R):5'- CGTTTTCTGGAAACATTTGAG -3'

Posted On

2014-11-12