Mutagenetix > Incidental Mutation

Incidental Mutation 'R9667:Arhgap35'

727848

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9667 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16228398-16349313 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 16296914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 717 (L717*)

Ref Sequence

ENSEMBL: ENSMUSP00000075242 (fasta)

Gene Model

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

AlphaFold

Q91YM2

Predicted Effect

probably null
Transcript: ENSMUST00000075845
AA Change: L717*

SMART Domains

Protein: ENSMUSP00000075242
Gene: ENSMUSG00000058230
AA Change: L717*

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 null
Transcript: ENSMUST00000171937
AA Change: L717*

SMART Domains

Protein: ENSMUSP00000127379
Gene: ENSMUSG00000058230
AA Change: L717*

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,890,645 (GRCm39)	Q355*	probably null	Het
Aacs	A	T	5: 125,580,691 (GRCm39)	N255I	possibly damaging	Het
Abcf2	A	G	5: 24,779,185 (GRCm39)	L121P	probably damaging	Het
Amigo1	A	G	3: 108,095,034 (GRCm39)	I178V	probably benign	Het
Ankrd13a	T	A	5: 114,933,793 (GRCm39)	N262K	probably damaging	Het
Apba2	A	G	7: 64,345,062 (GRCm39)	E84G	possibly damaging	Het
Aspa	A	T	11: 73,199,625 (GRCm39)	C217*	probably null	Het
Atp5mc3	A	G	2: 73,739,567 (GRCm39)	I91T	probably damaging	Het
Birc6	T	C	17: 75,004,420 (GRCm39)	M4763T	possibly damaging	Het
Cc2d2b	A	G	19: 40,753,927 (GRCm39)	Y150C	unknown	Het
Ccdc180	C	T	4: 45,920,861 (GRCm39)	Q936*	probably null	Het
Cdc42bpg	A	G	19: 6,370,115 (GRCm39)	E1103G	probably benign	Het
Cdca2	T	C	14: 67,915,003 (GRCm39)	Q752R	probably benign	Het
Ces1b	A	T	8: 93,791,637 (GRCm39)	S321T	probably benign	Het
Cfap70	A	T	14: 20,490,690 (GRCm39)		probably null	Het
Cpox	C	T	16: 58,490,984 (GRCm39)	T65I	possibly damaging	Het
Crocc	C	T	4: 140,748,988 (GRCm39)	E1606K	probably damaging	Het
Cryzl2	T	G	1: 157,316,038 (GRCm39)	M337R	probably benign	Het
Cyp4a29	C	A	4: 115,111,630 (GRCm39)	A469D	probably damaging	Het
Dnaaf1	T	A	8: 120,306,043 (GRCm39)	Y107N	possibly damaging	Het
Dpp6	T	A	5: 27,930,604 (GRCm39)	I812N	probably damaging	Het
Elovl5	A	G	9: 77,889,947 (GRCm39)	T253A	possibly damaging	Het
Fancd2	T	A	6: 113,530,717 (GRCm39)	L450*	probably null	Het
Fbxo31	C	T	8: 122,305,208 (GRCm39)	R96H	probably damaging	Het
Gls	A	T	1: 52,230,036 (GRCm39)		probably null	Het
Gm3045	G	A	13: 56,577,253 (GRCm39)	E134K	possibly damaging	Het
Gpr158	A	G	2: 21,830,054 (GRCm39)	I700V	probably damaging	Het
H2-Aa	T	C	17: 34,502,295 (GRCm39)	I209V	probably benign	Het
Ifnar2	A	G	16: 91,184,984 (GRCm39)	D125G	probably benign	Het
Igsf8	C	A	1: 172,145,319 (GRCm39)	D278E	possibly damaging	Het
Inpp5d	T	C	1: 87,623,128 (GRCm39)	I407T	probably damaging	Het
Iqcd	A	G	5: 120,744,737 (GRCm39)	E355G	probably damaging	Het
Klra2	T	A	6: 131,219,836 (GRCm39)	D115V	probably benign	Het
Kmt2b	T	C	7: 30,287,784 (GRCm39)	E120G	unknown	Het
Lhx6	A	G	2: 35,980,979 (GRCm39)	I321T	possibly damaging	Het
Lmna	CAGCACGGTGCGTGAGC	CAGC	3: 88,389,857 (GRCm39)		probably null	Het
Lztr1	T	C	16: 17,327,000 (GRCm39)	Y37H	probably damaging	Het
Malrd1	A	T	2: 15,570,026 (GRCm39)		probably null	Het
Mtmr3	C	T	11: 4,470,890 (GRCm39)	V79I	probably damaging	Het
Nbr1	A	G	11: 101,451,261 (GRCm39)	I56M	possibly damaging	Het
Ncor2	C	T	5: 125,125,545 (GRCm39)	A580T	unknown	Het
Ndst3	A	G	3: 123,353,866 (GRCm39)	I601T	possibly damaging	Het
Nectin4	C	A	1: 171,210,165 (GRCm39)	P219Q	probably damaging	Het
Nfatc4	T	C	14: 56,066,964 (GRCm39)	V501A	probably benign	Het
Nisch	T	C	14: 30,895,646 (GRCm39)	T1015A	probably damaging	Het
Nr2c1	T	C	10: 94,017,479 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,165,430 (GRCm39)	E394G	probably benign	Het
Oas1e	A	G	5: 120,932,347 (GRCm39)	F99L	probably benign	Het
Oaz3	A	T	3: 94,341,835 (GRCm39)	Y178*	probably null	Het
Or1e35	A	G	11: 73,798,097 (GRCm39)	S74P	possibly damaging	Het
Or6c69b	A	C	10: 129,627,022 (GRCm39)	S145R	probably damaging	Het
Pcdhb20	C	T	18: 37,637,839 (GRCm39)	H122Y	probably benign	Het
Pdcd2	T	A	17: 15,747,535 (GRCm39)	M1L	probably damaging	Het
Phf11	T	C	14: 59,482,240 (GRCm39)	N171S	probably benign	Het
Plcd1	C	A	9: 118,901,698 (GRCm39)	G609W	probably damaging	Het
Plscr3	T	C	11: 69,738,631 (GRCm39)	F98L	probably benign	Het
Ppp1r8	T	C	4: 132,570,407 (GRCm39)	N6S	probably benign	Het
Prpf38b	G	A	3: 108,818,859 (GRCm39)		probably benign	Het
Rin2	T	A	2: 145,702,202 (GRCm39)	N299K	possibly damaging	Het
Serpina1d	T	G	12: 103,734,299 (GRCm39)	T2P	probably benign	Het
Slc22a16	A	G	10: 40,461,125 (GRCm39)	D330G	probably benign	Het
Slit1	G	A	19: 41,731,832 (GRCm39)	Q6*	probably null	Het
Spaca7b	T	A	8: 11,705,681 (GRCm39)	E142V	probably benign	Het
Spag9	T	C	11: 93,887,119 (GRCm39)	V8A	possibly damaging	Het
Spsb3	C	T	17: 25,105,784 (GRCm39)	T44I	unknown	Het
Srrt	T	C	5: 137,295,732 (GRCm39)	Y563C	probably damaging	Het
Syne2	A	G	12: 75,926,951 (GRCm39)	D69G	probably damaging	Het
Tcf12	A	G	9: 71,792,443 (GRCm39)	V80A	probably benign	Het
Tdpoz3	G	A	3: 93,733,336 (GRCm39)	D4N	possibly damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmem132d	G	A	5: 128,061,375 (GRCm39)	T409I	possibly damaging	Het
Tmem245	G	T	4: 56,947,119 (GRCm39)	T98K	probably damaging	Het
Tmem70	A	C	1: 16,735,659 (GRCm39)	E43A	probably benign	Het
Trim25	A	T	11: 88,907,188 (GRCm39)	I516F	probably damaging	Het
Trim3	G	A	7: 105,267,455 (GRCm39)	S308L	possibly damaging	Het
Ttll9	C	T	2: 152,831,989 (GRCm39)	R189*	probably null	Het
Ttpal	T	C	2: 163,449,596 (GRCm39)		probably null	Het
Ubl4b	A	T	3: 107,461,911 (GRCm39)	H116Q	probably benign	Het
Unc80	C	A	1: 66,651,287 (GRCm39)	T1544K	possibly damaging	Het
Usp2	T	C	9: 44,003,487 (GRCm39)		probably null	Het
Usp25	T	C	16: 76,874,123 (GRCm39)		probably null	Het
Vmn1r167	C	T	7: 23,204,990 (GRCm39)	V9I	probably benign	Het
Vmn2r87	A	G	10: 130,314,776 (GRCm39)	I270T	probably damaging	Het
Vps35l	G	A	7: 118,348,915 (GRCm39)		probably null	Het
Wdr24	A	G	17: 26,046,301 (GRCm39)	D515G	possibly damaging	Het
Wdr81	T	C	11: 75,341,650 (GRCm39)	T87A		Het
Zcchc14	A	T	8: 122,331,863 (GRCm39)	L500Q	unknown	Het
Zzef1	A	G	11: 72,758,786 (GRCm39)	T1242A	probably benign	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
R4661:Arhgap35	UTSW	7	16,298,663 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- ACTTGCAGTGGAGCTAACCAG -3'
(R):5'- ATAGAGGGGAATGTCCGGCTTC -3'

Sequencing Primer
(F):5'- AGCTAACCAGGTTTAAGTTGCGC -3'
(R):5'- GAATGTCCGGCTTCCTGTGAAC -3'

Posted On

2022-10-06