Mutagenetix > Incidental Mutation

Incidental Mutation 'R5014:Git1'

385444

Institutional Source

Beutler Lab

Gene Symbol

Git1

Ensembl Gene

ENSMUSG00000011877

Gene Name

GIT ArfGAP 1

Synonyms

p95Cat, Cat-1

MMRRC Submission

042605-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5014 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77384388-77398612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77389821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 28 (V28E)

Ref Sequence

ENSEMBL: ENSMUSP00000098375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037285] [ENSMUST00000100812]

AlphaFold

Q68FF6

Predicted Effect

probably damaging
Transcript: ENSMUST00000037285
AA Change: V28E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037210
Gene: ENSMUSG00000011877
AA Change: V28E

Domain	Start	End	E-Value	Type
ArfGap	1	124	1.82e-45	SMART
ANK	132	161	2.55e2	SMART
ANK	166	195	2.47e0	SMART
ANK	199	228	4.6e0	SMART
GIT	273	303	1.01e-10	SMART
GIT	337	367	1.99e-9	SMART
Pfam:GIT_CC	418	483	8.6e-34	PFAM
Pfam:GIT1_C	647	763	3.2e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100812
AA Change: V28E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098375
Gene: ENSMUSG00000011877
AA Change: V28E

Domain	Start	End	E-Value	Type
ArfGap	1	124	1.82e-45	SMART
ANK	132	161	2.55e2	SMART
ANK	166	195	2.47e0	SMART
ANK	199	228	4.6e0	SMART
GIT	264	294	1.01e-10	SMART
GIT	328	358	1.99e-9	SMART
PDB:2W6A\|B	417	473	3e-28	PDB
low complexity region	474	484	N/A	INTRINSIC
Pfam:GIT1_C	632	756	4.9e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152428

Meta Mutation Damage Score

0.9358

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.7%

Validation Efficiency

97% (83/86)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality associated with abnormal lung vascular development with surviving mice exhibiting abnormal learning and anxiety related behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,896 (GRCm39)	T1353A	probably benign	Het
Abca8b	A	T	11: 109,840,957 (GRCm39)	I1072N	probably damaging	Het
Atp1a2	T	C	1: 172,112,438 (GRCm39)	T517A	probably benign	Het
Blk	T	G	14: 63,617,236 (GRCm39)	N257T	probably benign	Het
Brd4	A	T	17: 32,417,372 (GRCm39)		probably benign	Het
Calr4	C	T	4: 109,092,994 (GRCm39)	Q25*	probably null	Het
Cbl	T	C	9: 44,065,696 (GRCm39)		probably null	Het
Ccdc30	T	G	4: 119,250,824 (GRCm39)	H6P	possibly damaging	Het
Cd101	A	C	3: 100,911,139 (GRCm39)	Y840D	probably damaging	Het
Cd68	T	A	11: 69,556,165 (GRCm39)	N178Y	probably damaging	Het
Cep350	T	C	1: 155,803,952 (GRCm39)	T1044A	probably benign	Het
Cfap46	A	G	7: 139,207,291 (GRCm39)	V1876A	probably benign	Het
Clec2g	T	A	6: 128,925,765 (GRCm39)	M58K	probably benign	Het
Clip1	T	C	5: 123,755,793 (GRCm39)	E860G	probably damaging	Het
Col18a1	C	T	10: 76,906,794 (GRCm39)		probably null	Het
Cul7	A	G	17: 46,966,868 (GRCm39)	*650W	probably null	Het
Dkk4	C	T	8: 23,115,315 (GRCm39)	A55V	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnai7	T	C	6: 145,128,992 (GRCm39)	E407G	probably damaging	Het
Dnase1	C	A	16: 3,856,880 (GRCm39)	Y170*	probably null	Het
Dnmt1	A	C	9: 20,823,550 (GRCm39)	I1019S	probably benign	Het
Epha6	T	A	16: 59,486,942 (GRCm39)	H1035L	probably benign	Het
Fam124b	T	C	1: 80,177,776 (GRCm39)	T408A	probably benign	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Galnt7	T	C	8: 57,998,414 (GRCm39)	E305G	probably damaging	Het
Garin1b	C	T	6: 29,326,723 (GRCm39)		probably benign	Het
Gm10010	C	T	6: 128,177,556 (GRCm39)		noncoding transcript	Het
Gm4956	T	C	1: 21,363,821 (GRCm39)		noncoding transcript	Het
Gpr152	T	G	19: 4,193,506 (GRCm39)	V349G	probably benign	Het
Gtsf1l	C	T	2: 162,929,112 (GRCm39)	V124I	probably damaging	Het
Gucy1b1	C	G	3: 81,953,974 (GRCm39)	G114A	probably benign	Het
Hk2	T	C	6: 82,720,936 (GRCm39)	Q166R	possibly damaging	Het
Hook2	A	G	8: 85,718,006 (GRCm39)	I44M	probably damaging	Het
Ildr1	T	A	16: 36,541,921 (GRCm39)	M222K	probably damaging	Het
Ints6	A	T	14: 62,997,640 (GRCm39)	F55Y	probably benign	Het
Kcnh1	A	G	1: 191,959,388 (GRCm39)	N314S	probably damaging	Het
Lpin3	T	C	2: 160,746,748 (GRCm39)	F748L	probably damaging	Het
Lrsam1	T	C	2: 32,826,407 (GRCm39)		probably benign	Het
Msh2	A	T	17: 88,025,004 (GRCm39)	K627N	possibly damaging	Het
Myrip	A	G	9: 120,251,534 (GRCm39)	Q219R	probably damaging	Het
Ndufb3	T	A	1: 58,630,401 (GRCm39)	W51R	probably damaging	Het
Nfasc	A	T	1: 132,512,185 (GRCm39)		probably benign	Het
Or2c1	T	A	16: 3,656,912 (GRCm39)	I25N	probably benign	Het
Or2h2	T	A	17: 37,396,446 (GRCm39)	I204F	probably benign	Het
Or8s8	T	C	15: 98,354,857 (GRCm39)	V222A	possibly damaging	Het
P3h3	T	A	6: 124,832,199 (GRCm39)	E229V	probably damaging	Het
Ppfia2	T	A	10: 106,701,224 (GRCm39)	L837*	probably null	Het
Ppp2r1a	G	A	17: 21,179,101 (GRCm39)		probably null	Het
Rabgap1	T	A	2: 37,377,152 (GRCm39)	V328E	probably damaging	Het
Ralgapb	G	A	2: 158,337,455 (GRCm39)	R1138Q	probably damaging	Het
Ranbp2	A	T	10: 58,299,942 (GRCm39)	Q498L	probably benign	Het
Rbx1	T	A	15: 81,355,161 (GRCm39)	C56S	probably damaging	Het
Rcan2	T	C	17: 44,328,704 (GRCm39)	F45S	probably damaging	Het
Rgs20	T	C	1: 4,980,770 (GRCm39)	Y185C	probably damaging	Het
Rorc	T	G	3: 94,298,460 (GRCm39)	L315R	probably damaging	Het
Skic2	A	G	17: 35,066,401 (GRCm39)	V194A	probably benign	Het
Slc13a2	T	C	11: 78,290,987 (GRCm39)	K406E	possibly damaging	Het
Slc35g3	T	A	11: 69,651,866 (GRCm39)	K62*	probably null	Het
Sox30	T	C	11: 45,882,736 (GRCm39)	S589P	probably benign	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Ssh2	T	A	11: 77,346,102 (GRCm39)	C1362*	probably null	Het
Tecta	C	T	9: 42,284,538 (GRCm39)	C849Y	probably damaging	Het
Thbs1	T	A	2: 117,950,518 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tut4	T	C	4: 108,384,043 (GRCm39)		probably benign	Het
Tyk2	C	T	9: 21,027,126 (GRCm39)		probably null	Het
Tyw5	C	A	1: 57,446,004 (GRCm39)		probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm39)	T761A	probably benign	Het
Wdfy4	A	T	14: 32,822,897 (GRCm39)	C1401S	probably benign	Het
Wiz	T	C	17: 32,578,340 (GRCm39)	N391D	probably damaging	Het
Ylpm1	G	A	12: 85,061,523 (GRCm39)	E475K	unknown	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp184	A	G	13: 22,142,594 (GRCm39)	D100G	probably benign	Het
Zfp990	T	A	4: 145,264,669 (GRCm39)	C556S	possibly damaging	Het
Zkscan16	C	T	4: 58,951,892 (GRCm39)	P189L	probably damaging	Het

Other mutations in Git1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Git1	APN	11	77,396,783 (GRCm39)	missense	probably benign
IGL00401:Git1	APN	11	77,389,782 (GRCm39)	splice site	probably benign
IGL02143:Git1	APN	11	77,396,813 (GRCm39)	missense	possibly damaging	0.94
IGL02451:Git1	APN	11	77,391,513 (GRCm39)	missense	possibly damaging	0.66
IGL02474:Git1	APN	11	77,394,217 (GRCm39)	missense	probably damaging	1.00
IGL02517:Git1	APN	11	77,390,413 (GRCm39)	missense	probably benign	0.03
IGL02933:Git1	APN	11	77,391,902 (GRCm39)	missense	probably damaging	0.98
R0148:Git1	UTSW	11	77,396,554 (GRCm39)	missense	probably benign	0.28
R0195:Git1	UTSW	11	77,391,899 (GRCm39)	missense	probably benign	0.07
R0762:Git1	UTSW	11	77,390,660 (GRCm39)	missense	possibly damaging	0.80
R1439:Git1	UTSW	11	77,397,244 (GRCm39)	missense	possibly damaging	0.89
R1739:Git1	UTSW	11	77,389,808 (GRCm39)	missense	probably damaging	1.00
R4471:Git1	UTSW	11	77,390,650 (GRCm39)	missense	probably benign	0.26
R4482:Git1	UTSW	11	77,391,333 (GRCm39)	missense	possibly damaging	0.89
R4653:Git1	UTSW	11	77,395,869 (GRCm39)	missense	possibly damaging	0.94
R4783:Git1	UTSW	11	77,390,663 (GRCm39)	missense	probably damaging	1.00
R5703:Git1	UTSW	11	77,395,494 (GRCm39)	frame shift	probably null
R5984:Git1	UTSW	11	77,397,309 (GRCm39)	missense	possibly damaging	0.76
R6962:Git1	UTSW	11	77,395,469 (GRCm39)	missense	probably benign	0.31
R6972:Git1	UTSW	11	77,390,347 (GRCm39)	missense	probably damaging	1.00
R7012:Git1	UTSW	11	77,390,606 (GRCm39)	missense	probably damaging	1.00
R8204:Git1	UTSW	11	77,396,161 (GRCm39)	missense	probably benign	0.23
R9072:Git1	UTSW	11	77,389,901 (GRCm39)	missense	probably benign	0.03
R9073:Git1	UTSW	11	77,389,901 (GRCm39)	missense	probably benign	0.03
R9124:Git1	UTSW	11	77,395,498 (GRCm39)	missense	possibly damaging	0.69
R9126:Git1	UTSW	11	77,390,380 (GRCm39)	missense	probably damaging	1.00
R9162:Git1	UTSW	11	77,396,331 (GRCm39)	missense	probably benign	0.31
R9658:Git1	UTSW	11	77,390,581 (GRCm39)	missense	probably damaging	1.00
X0028:Git1	UTSW	11	77,389,872 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCATTCCCAGAGGAGTTAGAGG -3'
(R):5'- CCGCATGTTGTGAATAGGC -3'

Sequencing Primer
(F):5'- CATTCCCAGAGGAGTTAGAGGAAAGG -3'
(R):5'- ATGCGCGCATGAGGCTG -3'

Posted On

2016-05-10