Mutagenetix > Incidental Mutation

Incidental Mutation 'R4783:Git1'

366741

Institutional Source

Beutler Lab

Gene Symbol

Git1

Ensembl Gene

ENSMUSG00000011877

Gene Name

GIT ArfGAP 1

Synonyms

p95Cat, Cat-1

MMRRC Submission

042416-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77384388-77398612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 77390663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 133 (L133R)

Ref Sequence

ENSEMBL: ENSMUSP00000037210 (fasta)

Gene Model

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

AlphaFold

Q68FF6

Predicted Effect

probably damaging
Transcript: ENSMUST00000037285
AA Change: L133R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037210
Gene: ENSMUSG00000011877
AA Change: L133R

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: L133R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098375
Gene: ENSMUSG00000011877
AA Change: L133R

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

0.4183

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (99/99)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	A	5: 30,310,198 (GRCm39)	R54*	probably null	Het
Acsl6	A	T	11: 54,227,819 (GRCm39)	M350L	probably damaging	Het
Adgrv1	T	C	13: 81,243,564 (GRCm39)	T6279A	probably damaging	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Ascc2	G	A	11: 4,596,653 (GRCm39)	R58H	probably benign	Het
Brinp3	A	G	1: 146,603,378 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,738,778 (GRCm39)		probably null	Het
Ccdc47	T	A	11: 106,094,430 (GRCm39)	H7L	probably benign	Het
Ccndbp1	A	T	2: 120,839,003 (GRCm39)	T5S	probably benign	Het
Cdr2	A	T	7: 120,557,644 (GRCm39)	F294I	probably benign	Het
Chd8	C	A	14: 52,442,825 (GRCm39)	C575F	probably damaging	Het
Ctsll3	G	A	13: 60,948,209 (GRCm39)	T156I	probably damaging	Het
Dgcr8	G	A	16: 18,076,174 (GRCm39)	R4*	probably null	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dok2	C	T	14: 71,015,314 (GRCm39)	P347L	probably benign	Het
Elf1	T	A	14: 79,818,183 (GRCm39)	N567K	probably benign	Het
Emsy	T	C	7: 98,295,686 (GRCm39)	N72S	possibly damaging	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fbn1	A	T	2: 125,166,839 (GRCm39)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,998,523 (GRCm39)	T312A	probably benign	Het
Fhip1a	G	T	3: 85,595,877 (GRCm39)	T115K	probably damaging	Het
Flnb	A	T	14: 7,905,701 (GRCm38)	E1150D	probably benign	Het
Galt	T	C	4: 41,758,189 (GRCm39)	V318A	probably damaging	Het
Gm11168	G	A	9: 3,006,915 (GRCm39)	M213I	probably benign	Het
Gm7233	A	G	14: 43,037,423 (GRCm39)	E25G	probably benign	Het
Golga2	T	A	2: 32,187,168 (GRCm39)	N89K	probably damaging	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
Hlcs	C	T	16: 94,069,398 (GRCm39)	V164I	possibly damaging	Het
Hmgcr	G	A	13: 96,802,701 (GRCm39)	T66M	probably damaging	Het
Ifi206	A	T	1: 173,308,432 (GRCm39)	H521Q	probably benign	Het
Lgals3bp	G	A	11: 118,284,340 (GRCm39)	T413I	probably damaging	Het
Lrrc7	A	G	3: 157,832,850 (GRCm39)		probably null	Het
Mapk11	T	C	15: 89,033,691 (GRCm39)	Y9C	probably damaging	Het
Mccc1	C	A	3: 36,030,022 (GRCm39)	M429I	probably damaging	Het
Metrnl	A	G	11: 121,598,750 (GRCm39)	E40G	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Myh13	A	T	11: 67,232,096 (GRCm39)	I459F	probably damaging	Het
Nalf1	T	C	8: 9,258,026 (GRCm39)	Y374C	probably damaging	Het
Nedd4l	C	A	18: 65,305,998 (GRCm39)	D424E	probably damaging	Het
Nid1	C	T	13: 13,674,326 (GRCm39)	R902W	probably damaging	Het
Nphp4	G	A	4: 152,639,003 (GRCm39)	R878K	probably benign	Het
Numa1	A	G	7: 101,662,773 (GRCm39)	T1997A	probably damaging	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Nxf1	G	A	19: 8,744,162 (GRCm39)	A339T	probably benign	Het
Oas1b	C	A	5: 120,952,578 (GRCm39)	Q90K	probably benign	Het
Optn	T	C	2: 5,059,438 (GRCm39)	M27V	probably benign	Het
Or1r1	A	G	11: 73,874,834 (GRCm39)	F200S	probably damaging	Het
Or2t35	A	C	14: 14,407,729 (GRCm38)	Y167S	possibly damaging	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or5ac17	G	T	16: 59,036,222 (GRCm39)	F251L	probably damaging	Het
Or5d45	A	G	2: 88,153,500 (GRCm39)	I183T	probably damaging	Het
Or5g29	A	G	2: 85,421,282 (GRCm39)	T133A	probably benign	Het
Or5h18	G	T	16: 58,848,260 (GRCm39)	D3E	probably benign	Het
Oxgr1	T	C	14: 120,259,776 (GRCm39)	I144V	probably benign	Het
Pax5	T	A	4: 44,570,086 (GRCm39)	T127S	probably damaging	Het
Pcsk2	T	C	2: 143,529,599 (GRCm39)		probably null	Het
Pdxk	A	G	10: 78,300,626 (GRCm39)	V19A	possibly damaging	Het
Pik3c2a	A	T	7: 116,017,060 (GRCm39)	S232R	probably damaging	Het
Ppip5k1	T	C	2: 121,171,329 (GRCm39)	D620G	possibly damaging	Het
Ppp4r4	T	A	12: 103,557,117 (GRCm39)		probably null	Het
Psmd1	A	G	1: 86,006,434 (GRCm39)	N267D	probably damaging	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rasal3	T	A	17: 32,615,755 (GRCm39)	D361V	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,730,102 (GRCm39)	D182G	probably damaging	Het
Rif1	T	C	2: 52,002,759 (GRCm39)	V2071A	probably damaging	Het
Rilp	C	T	11: 75,401,467 (GRCm39)	A110V	possibly damaging	Het
Rprd2	A	G	3: 95,681,645 (GRCm39)	V332A	probably benign	Het
Sbpl	T	A	17: 24,172,304 (GRCm39)	D205V	unknown	Het
Scn9a	T	C	2: 66,370,967 (GRCm39)	I538V	probably benign	Het
Serpina1d	T	C	12: 103,734,083 (GRCm39)	S74G	possibly damaging	Het
Serpina3n	T	C	12: 104,375,369 (GRCm39)	I147T	possibly damaging	Het
Serpinb8	A	G	1: 107,532,472 (GRCm39)	N188S	probably benign	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slc25a47	T	A	12: 108,821,260 (GRCm39)	L123Q	probably damaging	Het
Slc30a2	A	T	4: 134,071,317 (GRCm39)		probably null	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Snx13	T	A	12: 35,148,285 (GRCm39)	D271E	probably damaging	Het
Tbc1d9b	A	G	11: 50,062,125 (GRCm39)	N1211S	probably benign	Het
Tdrd3	T	A	14: 87,709,537 (GRCm39)	I67N	probably damaging	Het
Thbs1	T	C	2: 117,945,273 (GRCm39)	V282A	probably benign	Het
Tmc8	A	G	11: 117,682,431 (GRCm39)		probably null	Het
Trim11	T	A	11: 58,879,750 (GRCm39)	F284Y	probably null	Het
Ttn	G	T	2: 76,552,141 (GRCm39)	Y29419*	probably null	Het
Ttn	A	G	2: 76,599,947 (GRCm39)	Y19076H	probably damaging	Het
Ubr4	T	C	4: 139,149,044 (GRCm39)	S448P	possibly damaging	Het
Ugt2b34	T	C	5: 87,039,332 (GRCm39)	E443G	probably damaging	Het
Usp29	A	G	7: 6,964,390 (GRCm39)	T78A	probably damaging	Het
Vmn1r227	A	G	17: 20,955,396 (GRCm39)		noncoding transcript	Het
Vmn1r85	A	T	7: 12,818,788 (GRCm39)	W119R	probably damaging	Het
Vmn2r12	A	T	5: 109,234,379 (GRCm39)	V611E	probably damaging	Het
Vmn2r97	A	T	17: 19,149,550 (GRCm39)	M313L	probably benign	Het
Zap70	T	C	1: 36,818,254 (GRCm39)	Y314H	probably damaging	Het
Zfp667	T	A	7: 6,308,684 (GRCm39)	F451I	possibly 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
R5014:Git1	UTSW	11	77,389,821 (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'- CCCCAAGATAAAGTCCAGTGAG -3'
(R):5'- CTGCTTGGAACAGATACCAGC -3'

Sequencing Primer
(F):5'- AGTGGGCAGACCGTGTG -3'
(R):5'- CTAGCTTTCAAGTGGCAGACG -3'

Posted On

2015-12-29