Mutagenetix > Incidental Mutation

Incidental Mutation 'R1465:Arhgef33'

201108

Institutional Source

Beutler Lab

Gene Symbol

Arhgef33

Ensembl Gene

ENSMUSG00000054901

Gene Name

Rho guanine nucleotide exchange factor 33

Synonyms

LOC381112, Gm941

MMRRC Submission

039519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R1465 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80614836-80707510 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80674730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 376 (C376S)

Ref Sequence

ENSEMBL: ENSMUSP00000153224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068175] [ENSMUST00000223878]

AlphaFold

Q8BW86

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068175
AA Change: C376S

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063284
Gene: ENSMUSG00000054901
AA Change: C376S

Domain	Start	End	E-Value	Type
coiled coil region	64	128	N/A	INTRINSIC
low complexity region	129	149	N/A	INTRINSIC
Pfam:RhoGEF	277	446	4.7e-16	PFAM
low complexity region	455	473	N/A	INTRINSIC
low complexity region	510	520	N/A	INTRINSIC
low complexity region	620	629	N/A	INTRINSIC
low complexity region	751	770	N/A	INTRINSIC
low complexity region	823	834	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223878
AA Change: C376S

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225018

Coding Region Coverage

1x: 97.3%
3x: 96.5%
10x: 93.6%
20x: 86.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	A	G	9: 50,651,866 (GRCm39)	Y121H	probably damaging	Het
Abca13	G	T	11: 9,349,303 (GRCm39)	G3626W	probably damaging	Het
Acvr1c	A	G	2: 58,174,973 (GRCm39)	Y192H	probably damaging	Het
Afm	A	T	5: 90,698,200 (GRCm39)	D534V	probably damaging	Het
Agl	T	C	3: 116,565,021 (GRCm39)	E1076G	probably benign	Het
Ahcyl	T	C	16: 45,974,211 (GRCm39)	K389E	probably benign	Het
Angptl3	A	T	4: 98,925,757 (GRCm39)	H361L	probably benign	Het
Apob	T	C	12: 8,061,421 (GRCm39)	F3301S	possibly damaging	Het
Ass1	A	G	2: 31,410,428 (GRCm39)	*413W	probably null	Het
Atp6v1h	T	A	1: 5,165,911 (GRCm39)	L127Q	probably damaging	Het
Bcl2l1	G	A	2: 152,671,870 (GRCm39)	S14F	probably damaging	Het
Bhmt1b	T	G	18: 87,775,382 (GRCm39)	F302V	probably damaging	Het
Birc6	G	A	17: 74,930,853 (GRCm39)	A2477T	probably benign	Het
Bpifb9a	G	A	2: 154,112,941 (GRCm39)	A589T	possibly damaging	Het
Casp9	C	A	4: 141,533,151 (GRCm39)	T252K	probably benign	Het
Cct4	G	A	11: 22,952,922 (GRCm39)	D533N	probably damaging	Het
Clcn6	A	C	4: 148,098,358 (GRCm39)	I555S	probably damaging	Het
Col4a4	A	T	1: 82,475,543 (GRCm39)		probably null	Het
Cyp2d10	A	T	15: 82,288,129 (GRCm39)		probably null	Het
D930048N14Rik	A	G	11: 51,545,740 (GRCm39)		probably benign	Het
Dhfr	A	G	13: 92,504,815 (GRCm39)		probably benign	Het
Dlg5	T	C	14: 24,204,764 (GRCm39)		probably null	Het
Dnah11	T	C	12: 118,002,430 (GRCm39)	E2240G	probably damaging	Het
Dnmt3a	A	G	12: 3,916,088 (GRCm39)	E17G	probably damaging	Het
Dock1	A	G	7: 134,384,138 (GRCm39)	T670A	probably benign	Het
Dpy19l2	A	G	9: 24,580,618 (GRCm39)	M241T	probably benign	Het
Dpy19l4	A	G	4: 11,296,034 (GRCm39)	S212P	probably damaging	Het
Ephb6	T	C	6: 41,593,040 (GRCm39)	F426S	probably damaging	Het
F5	A	T	1: 164,026,402 (GRCm39)	D1658V	probably benign	Het
Faah	A	T	4: 115,856,755 (GRCm39)	V469E	probably damaging	Het
Fas	T	C	19: 34,294,013 (GRCm39)	C123R	probably damaging	Het
Fhod1	T	C	8: 106,065,546 (GRCm39)		probably benign	Het
Filip1	A	G	9: 79,805,589 (GRCm39)	V55A	probably benign	Het
Frmpd1	G	A	4: 45,273,197 (GRCm39)	R372Q	probably damaging	Het
Glyctk	C	T	9: 106,034,806 (GRCm39)	G87S	probably damaging	Het
Golga3	T	C	5: 110,357,744 (GRCm39)	L1080P	probably damaging	Het
Gpr137	T	C	19: 6,915,812 (GRCm39)	T281A	probably benign	Het
Grap2	T	A	15: 80,532,612 (GRCm39)		probably null	Het
Hlcs	T	C	16: 94,069,151 (GRCm39)	D170G	probably damaging	Het
Hook1	A	G	4: 95,901,493 (GRCm39)	T484A	probably benign	Het
Hoxa5	T	A	6: 52,180,771 (GRCm39)	H187L	probably benign	Het
Inpp1	G	T	1: 52,829,253 (GRCm39)	S255R	probably benign	Het
Inpp4b	T	A	8: 82,494,786 (GRCm39)	V67E	probably damaging	Het
Iqgap3	A	G	3: 87,994,616 (GRCm39)	N105S	probably damaging	Het
Kcnq5	A	G	1: 21,539,692 (GRCm39)		probably null	Het
Klhl1	T	C	14: 96,477,649 (GRCm39)	N473S	probably benign	Het
Klk1b24	C	A	7: 43,840,785 (GRCm39)	T71N	probably benign	Het
Loxhd1	A	G	18: 77,468,269 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 41,001,071 (GRCm39)	R2165Q	probably benign	Het
Lrp2bp	A	T	8: 46,478,272 (GRCm39)	Q328L	possibly damaging	Het
Lrrc63	T	A	14: 75,344,829 (GRCm39)	K419N	possibly damaging	Het
Lrrc9	A	G	12: 72,547,533 (GRCm39)	N150S	probably benign	Het
Lrrn4	C	A	2: 132,713,995 (GRCm39)	C317F	probably damaging	Het
Ltbp2	T	C	12: 84,860,074 (GRCm39)	S627G	probably damaging	Het
Macf1	A	T	4: 123,386,947 (GRCm39)	S1224T	probably damaging	Het
Meis2	A	C	2: 115,889,151 (GRCm39)	H200Q	probably benign	Het
Mesd	C	A	7: 83,544,790 (GRCm39)	A80E	probably benign	Het
Mtor	G	T	4: 148,610,450 (GRCm39)		probably benign	Het
Myo3a	T	C	2: 22,467,939 (GRCm39)	F398L	probably benign	Het
Nagpa	G	T	16: 5,019,392 (GRCm39)		probably benign	Het
Nanp	A	G	2: 150,872,749 (GRCm39)	C60R	probably benign	Het
Nectin2	T	G	7: 19,464,041 (GRCm39)	M313L	probably benign	Het
Nek4	C	T	14: 30,678,844 (GRCm39)	H123Y	probably damaging	Het
Nploc4	A	G	11: 120,299,607 (GRCm39)	V371A	probably damaging	Het
Ntrk3	T	C	7: 78,005,762 (GRCm39)		probably benign	Het
Or11g7	A	G	14: 50,690,634 (GRCm39)	T42A	possibly damaging	Het
Or13c7b	A	G	4: 43,820,723 (GRCm39)	F213L	probably benign	Het
Or52n4	T	C	7: 104,294,153 (GRCm39)	N140S	probably benign	Het
Or5b109	T	A	19: 13,212,265 (GRCm39)	V217E	possibly damaging	Het
Pcdh20	T	A	14: 88,706,673 (GRCm39)	Q209L	probably benign	Het
Pcdhb20	G	A	18: 37,637,750 (GRCm39)	R92H	probably damaging	Het
Pgap1	T	C	1: 54,567,714 (GRCm39)	H377R	probably benign	Het
Phyhipl	G	T	10: 70,406,798 (GRCm39)	P52Q	probably damaging	Het
Plekhg4	T	C	8: 106,107,672 (GRCm39)		probably benign	Het
Pwwp2a	T	A	11: 43,596,383 (GRCm39)	V516E	possibly damaging	Het
Rack1	T	C	11: 48,692,586 (GRCm39)	V69A	probably damaging	Het
Rexo5	T	A	7: 119,400,581 (GRCm39)		probably null	Het
Rnf123	T	C	9: 107,948,665 (GRCm39)		probably benign	Het
Rock1	G	T	18: 10,072,863 (GRCm39)	Q1161K	possibly damaging	Het
Rps6ka2	T	C	17: 7,560,266 (GRCm39)	L568P	probably damaging	Het
Seh1l	T	C	18: 67,917,054 (GRCm39)	S78P	probably damaging	Het
Serpinb3b	A	T	1: 107,083,573 (GRCm39)		probably null	Het
Setd1a	T	C	7: 127,387,512 (GRCm39)		probably benign	Het
Setx	G	T	2: 29,030,401 (GRCm39)		probably null	Het
Sh3bp1	T	C	15: 78,791,545 (GRCm39)		probably benign	Het
Shc2	G	T	10: 79,467,136 (GRCm39)	R146S	probably damaging	Het
Skap2	T	C	6: 51,886,348 (GRCm39)	T5A	probably benign	Het
Skor2	A	T	18: 76,964,340 (GRCm39)		probably benign	Het
Slc35a3	T	C	3: 116,480,983 (GRCm39)	I93M	probably benign	Het
Sohlh1	C	T	2: 25,733,359 (GRCm39)	G295D	probably damaging	Het
Speg	A	G	1: 75,405,128 (GRCm39)		probably benign	Het
Sult2a8	A	C	7: 14,150,208 (GRCm39)	C168G	probably benign	Het
Tax1bp1	T	C	6: 52,704,179 (GRCm39)		probably benign	Het
Tbc1d4	T	C	14: 101,685,124 (GRCm39)	I1176V	possibly damaging	Het
Tcof1	A	G	18: 60,952,026 (GRCm39)		probably benign	Het
Thada	A	T	17: 84,744,104 (GRCm39)	F735I	possibly damaging	Het
Tle1	A	C	4: 72,058,068 (GRCm39)	H52Q	probably damaging	Het
Tmem101	A	T	11: 102,044,155 (GRCm39)	V244E	probably damaging	Het
Tnfrsf26	C	A	7: 143,171,668 (GRCm39)	C95F	probably damaging	Het
Uspl1	T	C	5: 149,150,842 (GRCm39)	S482P	probably benign	Het
Vmn2r118	G	T	17: 55,917,935 (GRCm39)	N192K	probably benign	Het
Vmn2r14	C	T	5: 109,368,195 (GRCm39)	V266I	possibly damaging	Het
Vmn2r51	A	G	7: 9,834,249 (GRCm39)	I263T	probably damaging	Het
Zfp937	T	A	2: 150,080,967 (GRCm39)	C332*	probably null	Het
Zscan21	T	A	5: 138,123,470 (GRCm39)	S50T	probably benign	Het

Other mutations in Arhgef33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Arhgef33	APN	17	80,675,659 (GRCm39)	missense	probably benign	0.33
IGL00784:Arhgef33	APN	17	80,675,659 (GRCm39)	missense	probably benign	0.33
IGL01601:Arhgef33	APN	17	80,655,112 (GRCm39)	missense	probably damaging	1.00
IGL01647:Arhgef33	APN	17	80,672,695 (GRCm39)	splice site	probably benign
IGL02654:Arhgef33	APN	17	80,677,740 (GRCm39)	missense	probably damaging	1.00
IGL02712:Arhgef33	APN	17	80,667,802 (GRCm39)	missense	probably damaging	1.00
R0195:Arhgef33	UTSW	17	80,688,863 (GRCm39)	missense	probably damaging	0.96
R0732:Arhgef33	UTSW	17	80,688,783 (GRCm39)	missense	possibly damaging	0.90
R0834:Arhgef33	UTSW	17	80,655,026 (GRCm39)	splice site	probably benign
R1144:Arhgef33	UTSW	17	80,662,473 (GRCm39)	missense	probably benign
R1465:Arhgef33	UTSW	17	80,674,730 (GRCm39)	missense	possibly damaging	0.88
R1513:Arhgef33	UTSW	17	80,678,818 (GRCm39)	missense	probably benign
R1680:Arhgef33	UTSW	17	80,655,080 (GRCm39)	missense	probably damaging	0.96
R1696:Arhgef33	UTSW	17	80,656,935 (GRCm39)	missense	probably damaging	1.00
R1775:Arhgef33	UTSW	17	80,681,172 (GRCm39)	missense	probably benign	0.05
R2046:Arhgef33	UTSW	17	80,680,895 (GRCm39)	missense	probably benign	0.08
R3933:Arhgef33	UTSW	17	80,680,749 (GRCm39)	missense	probably benign	0.01
R4573:Arhgef33	UTSW	17	80,672,711 (GRCm39)	missense	probably damaging	1.00
R5222:Arhgef33	UTSW	17	80,644,743 (GRCm39)	missense	probably damaging	1.00
R5269:Arhgef33	UTSW	17	80,677,704 (GRCm39)	missense	probably damaging	1.00
R5933:Arhgef33	UTSW	17	80,644,709 (GRCm39)	missense	probably benign
R6460:Arhgef33	UTSW	17	80,657,018 (GRCm39)	splice site	probably null
R7307:Arhgef33	UTSW	17	80,654,549 (GRCm39)	critical splice acceptor site	probably null
R7594:Arhgef33	UTSW	17	80,677,734 (GRCm39)	missense	probably damaging	1.00
R7746:Arhgef33	UTSW	17	80,654,549 (GRCm39)	critical splice acceptor site	probably null
R7895:Arhgef33	UTSW	17	80,680,914 (GRCm39)	missense	probably benign	0.00
R7956:Arhgef33	UTSW	17	80,662,477 (GRCm39)	missense	possibly damaging	0.81
R8508:Arhgef33	UTSW	17	80,674,764 (GRCm39)	missense	probably damaging	1.00
R8688:Arhgef33	UTSW	17	80,680,615 (GRCm39)	missense	probably damaging	0.96
R8743:Arhgef33	UTSW	17	80,667,882 (GRCm39)	critical splice donor site	probably null
R8768:Arhgef33	UTSW	17	80,681,148 (GRCm39)	missense	possibly damaging	0.53
R9322:Arhgef33	UTSW	17	80,677,818 (GRCm39)	nonsense	probably null
R9349:Arhgef33	UTSW	17	80,644,736 (GRCm39)	nonsense	probably null
R9625:Arhgef33	UTSW	17	80,654,707 (GRCm39)	missense	possibly damaging	0.95
R9727:Arhgef33	UTSW	17	80,678,720 (GRCm39)	missense	probably damaging	1.00
Z1177:Arhgef33	UTSW	17	80,691,659 (GRCm39)	missense	unknown

Predicted Primers

Posted On

2014-05-23