Mutagenetix > Incidental Mutation

Incidental Mutation 'R4661:Arhgap35'

352843

Institutional Source

Beutler Lab

Gene Symbol

Arhgap35

Ensembl Gene

ENSMUSG00000058230

Gene Name

Rho GTPase activating protein 35

Synonyms

p190A, 6430596G11Rik, p190RhoGAP, Grlf1, P190 RhoGAP

MMRRC Submission

041600-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4661 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16228398-16349313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16298663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 134 (F134Y)

Ref Sequence

ENSEMBL: ENSMUSP00000127379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075845] [ENSMUST00000171937]

AlphaFold

Q91YM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000075845
AA Change: F134Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075242
Gene: ENSMUSG00000058230
AA Change: F134Y

Domain	Start	End	E-Value	Type
Pfam:Ras	154	249	6.1e-7	PFAM
FF	270	327	5.76e-9	SMART
FF	369	422	1.1e-5	SMART
FF	429	483	7.43e-12	SMART
FF	485	539	2.02e-4	SMART
Blast:RhoGAP	733	796	1e-7	BLAST
low complexity region	1037	1048	N/A	INTRINSIC
low complexity region	1214	1225	N/A	INTRINSIC
low complexity region	1227	1235	N/A	INTRINSIC
RhoGAP	1259	1433	8.14e-72	SMART
low complexity region	1444	1457	N/A	INTRINSIC
low complexity region	1462	1494	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171937
AA Change: F134Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127379
Gene: ENSMUSG00000058230
AA Change: F134Y

Domain	Start	End	E-Value	Type
Pfam:Ras	154	249	6e-7	PFAM
FF	270	327	5.76e-9	SMART
FF	369	422	1.1e-5	SMART
FF	429	483	7.43e-12	SMART
FF	485	539	2.02e-4	SMART
Blast:RhoGAP	733	796	1e-7	BLAST
low complexity region	1037	1048	N/A	INTRINSIC
low complexity region	1214	1225	N/A	INTRINSIC
low complexity region	1227	1235	N/A	INTRINSIC
RhoGAP	1259	1433	8.14e-72	SMART
low complexity region	1444	1457	N/A	INTRINSIC
low complexity region	1462	1494	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die within 2 days of birth and never survive beyond 3 weeks. Observed phenotypes include defects in eye morphogenesis, forebrain development, neural tube closure, axon guidance and fasciculation, and renal abnormalities, including hypoplastic and glomerulocystic kidneys, associated with a ciliogenesis defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	C	9: 44,198,627 (GRCm39)	N42D	probably damaging	Het
Adamdec1	G	A	14: 68,807,562 (GRCm39)	T366I	probably damaging	Het
Adamts7	C	A	9: 90,075,383 (GRCm39)	H1038Q	probably benign	Het
Aff3	T	C	1: 38,666,209 (GRCm39)	D5G	possibly damaging	Het
Amhr2	A	T	15: 102,362,688 (GRCm39)	D485V	probably damaging	Het
Asxl3	A	G	18: 22,649,534 (GRCm39)	T508A	probably benign	Het
Atp10a	TGGCGGCGGC	TGGCGGC	7: 58,308,248 (GRCm39)		probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Atp9a	A	G	2: 168,479,592 (GRCm39)	F928L	possibly damaging	Het
BC034090	A	T	1: 155,108,221 (GRCm39)	D13E	probably damaging	Het
Bco1	A	G	8: 117,855,980 (GRCm39)	E425G	probably benign	Het
Brsk1	T	C	7: 4,710,298 (GRCm39)	S436P	possibly damaging	Het
C1s1	T	C	6: 124,513,449 (GRCm39)	I193V	probably benign	Het
Calb2	A	G	8: 110,894,709 (GRCm39)	F21L	probably benign	Het
Catsperz	T	G	19: 6,902,171 (GRCm39)	T108P	probably benign	Het
Cep57l1	T	A	10: 41,595,767 (GRCm39)	D329V	possibly damaging	Het
Cfdp1	A	G	8: 112,557,577 (GRCm39)	F188S	probably benign	Het
Chrna2	G	A	14: 66,386,292 (GRCm39)	G146D	probably damaging	Het
Col6a1	A	C	10: 76,550,506 (GRCm39)	F520V	unknown	Het
Cyb5d2	C	A	11: 72,669,771 (GRCm39)	V43L	probably damaging	Het
Cyp2c40	T	C	19: 39,775,290 (GRCm39)	T321A	probably benign	Het
Dnajc16	A	C	4: 141,490,859 (GRCm39)	Y764D	probably damaging	Het
Dsg1a	G	A	18: 20,473,590 (GRCm39)	V888M	probably damaging	Het
F5	A	C	1: 164,012,489 (GRCm39)	T468P	probably damaging	Het
Faap24	A	G	7: 35,094,509 (GRCm39)	M97T	probably benign	Het
Fam227b	A	T	2: 125,849,230 (GRCm39)	I334N	probably damaging	Het
Frem2	G	T	3: 53,562,864 (GRCm39)	P548T	probably damaging	Het
Gfm1	A	G	3: 67,340,731 (GRCm39)	E94G	probably damaging	Het
Gm17606	A	T	14: 54,885,696 (GRCm39)		probably benign	Het
Gnb2	A	T	5: 137,528,515 (GRCm39)	M1K	probably null	Het
Gys1	G	A	7: 45,104,258 (GRCm39)	A544T	probably damaging	Het
Hdac5	T	C	11: 102,096,675 (GRCm39)	Y230C	probably damaging	Het
Hunk	A	T	16: 90,244,196 (GRCm39)		probably null	Het
Ifnl2	A	G	7: 28,209,635 (GRCm39)	F51L	probably damaging	Het
Itpr1	T	C	6: 108,387,892 (GRCm39)		probably null	Het
Kcnj1	A	G	9: 32,307,918 (GRCm39)	Y114C	probably benign	Het
Kdm4b	T	A	17: 56,706,459 (GRCm39)	S322T	probably damaging	Het
Kif27	T	C	13: 58,471,730 (GRCm39)	E786G	probably damaging	Het
Kif6	T	C	17: 50,060,909 (GRCm39)	V414A	probably benign	Het
L1td1	A	G	4: 98,621,861 (GRCm39)	K141R	possibly damaging	Het
Loxhd1	A	G	18: 77,490,581 (GRCm39)	I1394V	possibly damaging	Het
Lrfn5	A	T	12: 61,886,433 (GRCm39)	M74L	probably damaging	Het
Lrp6	C	T	6: 134,488,230 (GRCm39)	D289N	probably benign	Het
Mroh7	A	G	4: 106,548,710 (GRCm39)		probably null	Het
Muc4	A	C	16: 32,589,651 (GRCm39)	E2885A	possibly damaging	Het
Myo18b	G	T	5: 113,023,041 (GRCm39)		probably benign	Het
Ncln	G	A	10: 81,328,902 (GRCm39)	A172V	probably damaging	Het
Nek9	G	A	12: 85,367,666 (GRCm39)	T335M	possibly damaging	Het
Notch2	A	G	3: 98,042,829 (GRCm39)	Y1398C	probably damaging	Het
Or10g6	A	T	9: 39,933,823 (GRCm39)	I45F	probably damaging	Het
Or2d4	T	A	7: 106,544,074 (GRCm39)	I45F	probably damaging	Het
Or5p52	A	T	7: 107,502,188 (GRCm39)	H88L	probably benign	Het
Pax2	G	A	19: 44,749,376 (GRCm39)	V40M	probably damaging	Het
Pde6c	A	G	19: 38,157,887 (GRCm39)	Y637C	probably damaging	Het
Plppr5	A	G	3: 117,414,618 (GRCm39)	I80V	probably damaging	Het
Pold1	G	T	7: 44,182,233 (GRCm39)	P1100T	probably damaging	Het
Prune2	T	C	19: 16,977,387 (GRCm39)	Y41H	probably damaging	Het
Rgl2	C	T	17: 34,152,200 (GRCm39)	A329V	possibly damaging	Het
Rilp	T	A	11: 75,402,250 (GRCm39)	Y250N	probably damaging	Het
Rilpl1	A	G	5: 124,652,751 (GRCm39)	V19A	probably benign	Het
Rtp3	T	C	9: 110,815,519 (GRCm39)		probably null	Het
Rufy4	A	G	1: 74,172,266 (GRCm39)	K246E	probably damaging	Het
Saraf	C	A	8: 34,635,616 (GRCm39)	A306E	probably damaging	Het
Slc26a8	A	T	17: 28,857,658 (GRCm39)	N828K	probably benign	Het
Src	C	T	2: 157,311,852 (GRCm39)	P527S	probably damaging	Het
Susd3	C	T	13: 49,384,778 (GRCm39)		probably null	Het
Syngap1	T	C	17: 27,185,880 (GRCm39)	L1270P	probably damaging	Het
Taf1c	G	A	8: 120,325,589 (GRCm39)	P758S	probably damaging	Het
Tenm2	A	T	11: 35,915,275 (GRCm39)	N2087K	probably damaging	Het
Tfrc	A	T	16: 32,448,969 (GRCm39)	I703F	probably damaging	Het
Thap1	C	G	8: 26,650,874 (GRCm39)	T48S	probably benign	Het
Tspear	T	C	10: 77,702,163 (GRCm39)	F199L	probably benign	Het
Usp17lc	A	T	7: 103,067,797 (GRCm39)	H364L	probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Homo
Vmn1r1	T	C	1: 181,984,789 (GRCm39)	E292G	possibly damaging	Het
Vmn1r125	T	G	7: 21,006,552 (GRCm39)	V150G	probably damaging	Het
Vmn1r167	A	T	7: 23,204,117 (GRCm39)	L300I	probably damaging	Het
Vmn2r106	A	C	17: 20,487,885 (GRCm39)	I838S	probably benign	Het
Wdr64	A	T	1: 175,554,060 (GRCm39)	S197C	probably damaging	Het
Zfp248	A	T	6: 118,410,268 (GRCm39)	V47E	possibly damaging	Het

Other mutations in Arhgap35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Arhgap35	APN	7	16,298,340 (GRCm39)	missense	probably benign	0.03
IGL00684:Arhgap35	APN	7	16,295,625 (GRCm39)	missense	possibly damaging	0.93
IGL01385:Arhgap35	APN	7	16,298,399 (GRCm39)	missense	probably damaging	0.96
IGL01411:Arhgap35	APN	7	16,298,192 (GRCm39)	missense	probably benign
IGL01922:Arhgap35	APN	7	16,298,180 (GRCm39)	missense	possibly damaging	0.73
IGL01977:Arhgap35	APN	7	16,297,128 (GRCm39)	missense	probably damaging	1.00
IGL02074:Arhgap35	APN	7	16,296,980 (GRCm39)	missense	probably benign	0.19
IGL02305:Arhgap35	APN	7	16,297,590 (GRCm39)	missense	probably benign	0.15
IGL02342:Arhgap35	APN	7	16,296,305 (GRCm39)	missense	probably benign	0.12
IGL02973:Arhgap35	APN	7	16,296,803 (GRCm39)	missense	possibly damaging	0.50
IGL02989:Arhgap35	APN	7	16,231,580 (GRCm39)	makesense	probably null
PIT4382001:Arhgap35	UTSW	7	16,297,794 (GRCm39)	missense	possibly damaging	0.95
PIT4431001:Arhgap35	UTSW	7	16,295,536 (GRCm39)	missense	possibly damaging	0.87
R0047:Arhgap35	UTSW	7	16,295,917 (GRCm39)	missense	probably benign	0.17
R1690:Arhgap35	UTSW	7	16,297,206 (GRCm39)	missense	probably damaging	1.00
R1820:Arhgap35	UTSW	7	16,295,874 (GRCm39)	missense	possibly damaging	0.92
R2036:Arhgap35	UTSW	7	16,297,058 (GRCm39)	missense	probably damaging	1.00
R2205:Arhgap35	UTSW	7	16,231,950 (GRCm39)	splice site	probably null
R2292:Arhgap35	UTSW	7	16,297,476 (GRCm39)	missense	probably damaging	1.00
R3079:Arhgap35	UTSW	7	16,296,501 (GRCm39)	missense	probably damaging	1.00
R3745:Arhgap35	UTSW	7	16,297,647 (GRCm39)	missense	probably damaging	1.00
R3762:Arhgap35	UTSW	7	16,299,000 (GRCm39)	missense	probably damaging	0.98
R4709:Arhgap35	UTSW	7	16,297,511 (GRCm39)	missense	probably damaging	0.97
R4749:Arhgap35	UTSW	7	16,232,551 (GRCm39)	missense	possibly damaging	0.95
R5081:Arhgap35	UTSW	7	16,299,059 (GRCm39)	missense	possibly damaging	0.71
R5131:Arhgap35	UTSW	7	16,245,112 (GRCm39)	splice site	probably null
R5175:Arhgap35	UTSW	7	16,296,524 (GRCm39)	missense	probably damaging	1.00
R5440:Arhgap35	UTSW	7	16,296,849 (GRCm39)	missense	probably damaging	1.00
R5517:Arhgap35	UTSW	7	16,297,414 (GRCm39)	missense	probably damaging	1.00
R5987:Arhgap35	UTSW	7	16,297,392 (GRCm39)	missense	possibly damaging	0.84
R6087:Arhgap35	UTSW	7	16,297,568 (GRCm39)	missense	probably damaging	1.00
R6139:Arhgap35	UTSW	7	16,297,392 (GRCm39)	missense	possibly damaging	0.84
R6396:Arhgap35	UTSW	7	16,296,224 (GRCm39)	missense	probably damaging	0.99
R6878:Arhgap35	UTSW	7	16,299,038 (GRCm39)	missense	probably benign	0.00
R7063:Arhgap35	UTSW	7	16,299,038 (GRCm39)	missense	probably benign	0.00
R7150:Arhgap35	UTSW	7	16,296,491 (GRCm39)	missense	probably damaging	0.96
R7269:Arhgap35	UTSW	7	16,295,652 (GRCm39)	missense	probably benign
R7276:Arhgap35	UTSW	7	16,298,493 (GRCm39)	missense	probably damaging	1.00
R7517:Arhgap35	UTSW	7	16,296,132 (GRCm39)	missense	probably benign	0.31
R7593:Arhgap35	UTSW	7	16,298,786 (GRCm39)	missense	probably damaging	1.00
R7775:Arhgap35	UTSW	7	16,296,573 (GRCm39)	missense	probably benign	0.01
R7792:Arhgap35	UTSW	7	16,295,453 (GRCm39)	missense	possibly damaging	0.88
R8101:Arhgap35	UTSW	7	16,296,244 (GRCm39)	missense	probably benign	0.00
R8873:Arhgap35	UTSW	7	16,295,415 (GRCm39)	missense	possibly damaging	0.92
R8956:Arhgap35	UTSW	7	16,348,404 (GRCm39)	start gained	probably benign
R9163:Arhgap35	UTSW	7	16,295,549 (GRCm39)	missense	possibly damaging	0.94
R9507:Arhgap35	UTSW	7	16,297,343 (GRCm39)	missense	probably benign	0.31
R9667:Arhgap35	UTSW	7	16,296,914 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTCATCACACTTAGTCAGGAC -3'
(R):5'- GACCACTTTCTGTACTGGGG -3'

Sequencing Primer
(F):5'- CTTAGTCAGGACTACCACTATGGG -3'
(R):5'- ACCACTTTCTGTACTGGGGAGAAG -3'

Posted On

2015-10-08