Mutagenetix > Incidental Mutation

Incidental Mutation 'R9072:Git1'

689617

Institutional Source

Beutler Lab

Gene Symbol

Git1

Ensembl Gene

ENSMUSG00000011877

Gene Name

GIT ArfGAP 1

Synonyms

p95Cat, Cat-1

MMRRC Submission

068894-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9072 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77384388-77398612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77389901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 55 (A55T)

Ref Sequence

ENSEMBL: ENSMUSP00000037210 (fasta)

Gene Model

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

AlphaFold

Q68FF6

Predicted Effect

probably benign
Transcript: ENSMUST00000037285
AA Change: A55T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000037210
Gene: ENSMUSG00000011877
AA Change: A55T

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 benign
Transcript: ENSMUST00000100812
AA Change: A55T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000098375
Gene: ENSMUSG00000011877
AA Change: A55T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,921,374 (GRCm39)	Y190*	probably null	Het
Agbl3	T	C	6: 34,776,387 (GRCm39)	C298R	probably damaging	Het
Ankrd26	T	A	6: 118,500,350 (GRCm39)	K1040N	probably damaging	Het
Ano3	T	A	2: 110,576,243 (GRCm39)	T93S	probably benign	Het
Apoc3	T	A	9: 46,144,532 (GRCm39)	I97F	probably benign	Het
Arid5a	A	G	1: 36,358,626 (GRCm39)	E401G	probably benign	Het
Atxn3	T	C	12: 101,903,730 (GRCm39)		probably null	Het
Brca1	C	T	11: 101,393,306 (GRCm39)		probably null	Het
C1ql3	T	A	2: 13,015,198 (GRCm39)	N154I	probably damaging	Het
Ccdc110	A	T	8: 46,395,875 (GRCm39)	M589L	probably benign	Het
Ccnb2	A	T	9: 70,318,095 (GRCm39)	F226I	possibly damaging	Het
Commd8	TTGTCATCT	TT	5: 72,318,327 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,332,647 (GRCm39)	T262A	probably benign	Het
Eif4a2	G	A	16: 22,929,403 (GRCm39)	R234Q	probably benign	Het
Ephx2	G	A	14: 66,323,688 (GRCm39)	R481*	probably null	Het
Fbxo15	T	C	18: 84,983,645 (GRCm39)	I331T	possibly damaging	Het
Gfra2	A	G	14: 71,138,935 (GRCm39)	E121G	possibly damaging	Het
Hfm1	T	C	5: 107,046,146 (GRCm39)	I553V	probably benign	Het
Hydin	G	A	8: 110,994,083 (GRCm39)		probably null	Het
Iqgap3	A	G	3: 88,016,773 (GRCm39)	N1085S		Het
Kbtbd12	T	C	6: 88,595,422 (GRCm39)	Y136C	probably damaging	Het
Kcng3	A	G	17: 83,938,423 (GRCm39)	Y209H	possibly damaging	Het
Kcnj2	A	T	11: 110,962,664 (GRCm39)	M19L	possibly damaging	Het
Lonrf2	A	T	1: 38,850,867 (GRCm39)	F232I	probably damaging	Het
Lrrc31	T	C	3: 30,753,859 (GRCm39)	D14G	probably benign	Het
Ly6l	G	A	15: 75,321,585 (GRCm39)	V62I	possibly damaging	Het
Marchf8	T	C	6: 116,378,884 (GRCm39)	F273L	probably benign	Het
Masp1	A	C	16: 23,288,671 (GRCm39)	S710A	probably benign	Het
Mcm10	G	A	2: 5,013,414 (GRCm39)	R73C	possibly damaging	Het
Mcm5	G	A	8: 75,852,934 (GRCm39)	R682H	probably damaging	Het
Mink1	C	T	11: 70,499,207 (GRCm39)	T684I	possibly damaging	Het
Mocos	A	T	18: 24,797,089 (GRCm39)	Q83L	probably damaging	Het
Nags	T	C	11: 102,038,347 (GRCm39)	L351P	probably damaging	Het
Nalcn	G	A	14: 123,532,863 (GRCm39)	T1299I	possibly damaging	Het
Nlrp4b	A	G	7: 10,459,870 (GRCm39)	D824G	probably benign	Het
Nwd1	A	T	8: 73,422,046 (GRCm39)	M1031L	probably benign	Het
Or11g27	C	T	14: 50,771,211 (GRCm39)	T114I	probably benign	Het
Or4c101	A	C	2: 88,390,658 (GRCm39)	I271L	probably benign	Het
Or4k40	A	T	2: 111,250,705 (GRCm39)	I197N	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Or5b112	A	G	19: 13,319,238 (GRCm39)	T39A	possibly damaging	Het
Or5d37	T	A	2: 87,924,172 (GRCm39)	Q36L	probably benign	Het
Pan2	T	C	10: 128,151,050 (GRCm39)	M807T	probably damaging	Het
Parp8	A	T	13: 117,047,951 (GRCm39)	I222N	probably damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pou1f1	T	C	16: 65,328,833 (GRCm39)	L186P		Het
Ppargc1b	G	A	18: 61,443,730 (GRCm39)	R494W	probably damaging	Het
Prg4	G	T	1: 150,331,288 (GRCm39)	P462T	unknown	Het
Ptcd1	T	A	5: 145,091,525 (GRCm39)	I525L	probably benign	Het
Ptchd4	A	T	17: 42,813,650 (GRCm39)	Y517F	probably damaging	Het
Pum1	T	C	4: 130,480,172 (GRCm39)	F693S	probably damaging	Het
Ribc2	A	C	15: 85,022,163 (GRCm39)	Q186P	probably damaging	Het
Sesn2	C	A	4: 132,224,195 (GRCm39)		probably null	Het
Sgf29	G	A	7: 126,271,826 (GRCm39)	V284M	probably damaging	Het
Skap2	C	T	6: 51,856,750 (GRCm39)		probably null	Het
Smap1	T	A	1: 23,961,154 (GRCm39)	E28V	probably damaging	Het
Smc3	A	G	19: 53,617,200 (GRCm39)	N538D	probably benign	Het
Spen	T	C	4: 141,203,702 (GRCm39)	T1642A	unknown	Het
Spred3	G	A	7: 28,865,955 (GRCm39)	R115*	probably null	Het
Sugt1	T	A	14: 79,866,293 (GRCm39)	M304K	possibly damaging	Het
Sval1	T	C	6: 41,928,606 (GRCm39)	I6T	possibly damaging	Het
Svil	T	C	18: 5,097,500 (GRCm39)	I1574T	probably benign	Het
Tinag	T	A	9: 76,904,300 (GRCm39)		probably null	Het
Trak1	T	C	9: 121,289,554 (GRCm39)	L622P	probably damaging	Het
Ttn	C	T	2: 76,586,218 (GRCm39)	D21838N	probably damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,746,150 (GRCm39)		probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r73	C	T	7: 11,490,203 (GRCm39)	A7V	probably benign	Het
Yy1	G	T	12: 108,759,921 (GRCm39)	G195C	probably benign	Het
Zbtb17	T	A	4: 141,193,676 (GRCm39)	C607S	possibly damaging	Het
Zfp735	T	C	11: 73,603,060 (GRCm39)	V668A	probably benign	Het
Zfp819	C	A	7: 43,266,570 (GRCm39)	T351K	probably damaging	Het
Zfp820	C	A	17: 22,039,031 (GRCm39)	S99I	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
R4783:Git1	UTSW	11	77,390,663 (GRCm39)	missense	probably damaging	1.00
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
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'- ACTGAGTAAATGTGCCTGAAGC -3'
(R):5'- TCCAGATATGAGTTCAAGCTGC -3'

Sequencing Primer
(F):5'- GCACTAAGCATGTGCCAGC -3'
(R):5'- ATTTGCATGCGCGCATG -3'

Posted On

2021-11-19