Mutagenetix > Incidental Mutation

Incidental Mutation 'R0047:Arhgap35'

32950

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

038341-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0047 (G1)

Quality Score

116

Status

Validated (trace)

Chromosome

Chromosomal Location

16228398-16349313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16295917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1049 (H1049Q)

Ref Sequence

ENSEMBL: ENSMUSP00000127379 (fasta)

Gene Model

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

AlphaFold

Q91YM2

Predicted Effect

probably benign
Transcript: ENSMUST00000075845
AA Change: H1049Q

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000075242
Gene: ENSMUSG00000058230
AA Change: H1049Q

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 benign
Transcript: ENSMUST00000171937
AA Change: H1049Q

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127379
Gene: ENSMUSG00000058230
AA Change: H1049Q

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

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (98/98)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,025 (GRCm39)	T405A	probably damaging	Het
Acer1	A	T	17: 57,262,624 (GRCm39)	D175E	possibly damaging	Het
Acsf2	T	C	11: 94,460,168 (GRCm39)	I395V	probably benign	Het
Adamts9	G	A	6: 92,882,287 (GRCm39)		probably benign	Het
Amigo3	T	C	9: 107,931,857 (GRCm39)	S427P	probably benign	Het
Ankrd35	A	G	3: 96,591,379 (GRCm39)	K555R	probably benign	Het
Arhgef5	G	A	6: 43,242,555 (GRCm39)		probably null	Het
Arid4a	T	G	12: 71,122,193 (GRCm39)	L858W	probably damaging	Het
Bbox1	A	G	2: 110,098,647 (GRCm39)	F310S	probably damaging	Het
Bhlhe22	T	C	3: 18,109,733 (GRCm39)	L261P	probably damaging	Het
Bltp1	T	A	3: 36,962,341 (GRCm39)	L481M	possibly damaging	Het
Bmper	T	A	9: 23,317,982 (GRCm39)	C534S	probably damaging	Het
Cacna1d	T	G	14: 30,068,747 (GRCm39)		probably benign	Het
Camk2g	G	A	14: 20,821,136 (GRCm39)		probably benign	Het
Capn12	G	A	7: 28,589,812 (GRCm39)		probably null	Het
Cdkl4	T	G	17: 80,858,274 (GRCm39)	N115T	probably benign	Het
Chchd1	T	C	14: 20,754,231 (GRCm39)	S48P	possibly damaging	Het
Chia1	G	T	3: 106,022,573 (GRCm39)	C49F	probably damaging	Het
Cnot7	A	G	8: 40,948,962 (GRCm39)		probably benign	Het
Crh	T	C	3: 19,748,201 (GRCm39)	E147G	probably damaging	Het
Cux1	T	C	5: 136,392,107 (GRCm39)		probably benign	Het
Cyp2b19	T	A	7: 26,466,251 (GRCm39)	D351E	probably benign	Het
Dctn1	G	T	6: 83,159,614 (GRCm39)	G31*	probably null	Het
Duox1	T	A	2: 122,177,122 (GRCm39)		probably benign	Het
Egflam	T	G	15: 7,282,911 (GRCm39)	E382A	possibly damaging	Het
Ext1	T	C	15: 53,208,542 (GRCm39)	N73S	probably benign	Het
Ffar4	A	G	19: 38,102,452 (GRCm39)		probably benign	Het
Glg1	A	T	8: 111,892,214 (GRCm39)	M866K	probably damaging	Het
Golm1	T	A	13: 59,792,914 (GRCm39)	H197L	probably benign	Het
Gtse1	A	G	15: 85,746,579 (GRCm39)	K132E	probably damaging	Het
Gxylt2	A	T	6: 100,710,339 (GRCm39)		probably benign	Het
Hrc	T	A	7: 44,986,113 (GRCm39)	S421R	probably benign	Het
Ighg2c	T	A	12: 113,251,788 (GRCm39)		probably benign	Het
Ihh	A	G	1: 74,985,750 (GRCm39)	I245T	probably benign	Het
Ilf3	T	A	9: 21,300,010 (GRCm39)	M65K	possibly damaging	Het
Insr	A	G	8: 3,252,947 (GRCm39)	V404A	probably damaging	Het
Irak2	G	T	6: 113,649,914 (GRCm39)		probably benign	Het
Irak2	G	A	6: 113,655,699 (GRCm39)	V367I	probably benign	Het
Kat7	A	C	11: 95,191,034 (GRCm39)	N119K	probably benign	Het
Kif9	A	G	9: 110,314,106 (GRCm39)	I33V	probably benign	Het
Klf17	A	G	4: 117,618,229 (GRCm39)	Y43H	probably benign	Het
Kng2	T	A	16: 22,806,313 (GRCm39)	T629S	possibly damaging	Het
Lama1	A	T	17: 68,102,181 (GRCm39)		probably benign	Het
Lamb1	T	C	12: 31,328,600 (GRCm39)	I188T	possibly damaging	Het
Lpp	T	A	16: 24,480,550 (GRCm39)		probably benign	Het
Lrp12	T	C	15: 39,741,635 (GRCm39)	E360G	probably damaging	Het
Mark2	A	C	19: 7,260,942 (GRCm39)		probably benign	Het
Mmp3	T	C	9: 7,451,910 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,928,727 (GRCm39)		probably benign	Het
Mtr	A	T	13: 12,237,112 (GRCm39)	S569T	probably damaging	Het
Myh13	T	A	11: 67,258,063 (GRCm39)	S1752T	probably benign	Het
Myo5a	T	A	9: 75,063,489 (GRCm39)	L565H	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nfkb1	A	T	3: 135,300,814 (GRCm39)	L72*	probably null	Het
Numa1	A	G	7: 101,658,660 (GRCm39)	K296E	probably damaging	Het
Obi1	T	A	14: 104,740,780 (GRCm39)		probably null	Het
Or51ab3	A	T	7: 103,201,529 (GRCm39)	Y179F	probably damaging	Het
Or5ac19	C	T	16: 59,089,574 (GRCm39)	G152D	probably damaging	Het
Or5b120	A	G	19: 13,479,953 (GRCm39)	E82G	probably benign	Het
Or5h18	T	A	16: 58,847,587 (GRCm39)	M228L	probably benign	Het
Or5p80	A	G	7: 108,229,759 (GRCm39)	I187V	probably benign	Het
Pcdhb5	A	T	18: 37,454,321 (GRCm39)	I234F	possibly damaging	Het
Pgm5	T	A	19: 24,661,920 (GRCm39)	I545F	probably damaging	Het
Pla2g2c	T	C	4: 138,470,901 (GRCm39)		probably benign	Het
Pnpla7	A	T	2: 24,901,618 (GRCm39)	E548V	probably damaging	Het
Ppm1m	C	A	9: 106,073,895 (GRCm39)	E273*	probably null	Het
Ppp2r1b	C	T	9: 50,772,873 (GRCm39)	R117*	probably null	Het
Rabgap1l	G	A	1: 160,059,359 (GRCm39)		probably benign	Het
Rapgef6	T	A	11: 54,437,204 (GRCm39)	M49K	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Rtel1	T	G	2: 180,965,198 (GRCm39)	I146M	probably damaging	Het
Sdr9c7	A	T	10: 127,739,541 (GRCm39)	M219L	probably benign	Het
Serpina3g	T	A	12: 104,206,543 (GRCm39)	S115T	possibly damaging	Het
Serpinb1a	A	T	13: 33,034,259 (GRCm39)	L44Q	probably damaging	Het
Slc13a4	A	G	6: 35,264,297 (GRCm39)	I190T	possibly damaging	Het
Slc46a2	A	G	4: 59,914,392 (GRCm39)	L177P	probably damaging	Het
Slc47a2	C	T	11: 61,227,068 (GRCm39)	V167M	possibly damaging	Het
Snrnp200	C	T	2: 127,076,874 (GRCm39)		probably benign	Het
Snx13	C	A	12: 35,151,123 (GRCm39)		probably benign	Het
Snx25	C	T	8: 46,494,402 (GRCm39)	A828T	probably damaging	Het
Spic	A	G	10: 88,511,803 (GRCm39)	L151P	probably damaging	Het
Ssu2	G	A	6: 112,351,781 (GRCm39)	H315Y	probably damaging	Het
Stk32a	T	C	18: 43,446,443 (GRCm39)		probably benign	Het
Tbx3	A	T	5: 119,818,511 (GRCm39)	E382V	probably damaging	Het
Tcaf2	A	G	6: 42,606,547 (GRCm39)	I469T	probably benign	Het
Tln2	A	G	9: 67,147,954 (GRCm39)		probably benign	Het
Top2a	T	A	11: 98,888,682 (GRCm39)	I1260L	probably benign	Het
Treml1	C	A	17: 48,672,008 (GRCm39)	S91*	probably null	Het
Trim26	T	C	17: 37,168,756 (GRCm39)		probably benign	Het
Trmt11	T	C	10: 30,411,239 (GRCm39)	N418S	probably benign	Het
Ttf1	A	G	2: 28,974,667 (GRCm39)	Y801C	probably damaging	Het
Usp34	C	T	11: 23,414,403 (GRCm39)	A2782V	probably benign	Het
Vmn2r77	T	C	7: 86,460,858 (GRCm39)	V728A	probably benign	Het
Vps4a	T	C	8: 107,763,333 (GRCm39)	L29P	probably damaging	Het
Wdfy3	A	G	5: 102,091,899 (GRCm39)	I480T	probably damaging	Het
Wdr41	A	G	13: 95,146,795 (GRCm39)	I197V	probably damaging	Het
Ywhag	A	T	5: 135,940,153 (GRCm39)	V147E	probably damaging	Het
Zan	A	G	5: 137,401,918 (GRCm39)	M4058T	unknown	Het
Zfp236	C	T	18: 82,698,817 (GRCm39)	C88Y	probably 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
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
R9667:Arhgap35	UTSW	7	16,296,914 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGAACCATTACCACTGCCATTGGAC -3'
(R):5'- TTCGGGAAGATGCGACATTGCC -3'

Sequencing Primer
(F):5'- CGAATGGTAATGATCTTGCCC -3'
(R):5'- GCCCTCCCTGTCCAAAG -3'

Posted On

2013-05-09