Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Arhgef40'

730276

Institutional Source

Beutler Lab

Gene Symbol

Arhgef40

Ensembl Gene

ENSMUSG00000004562

Gene Name

Rho guanine nucleotide exchange factor 40

Synonyms

E130112L23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52222176-52243708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52226415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 153 (I153T)

Ref Sequence

ENSEMBL: ENSMUSP00000091331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093813] [ENSMUST00000100639] [ENSMUST00000182061] [ENSMUST00000182193] [ENSMUST00000182338] [ENSMUST00000182649] [ENSMUST00000182760] [ENSMUST00000182905] [ENSMUST00000182909] [ENSMUST00000183208]

AlphaFold

Q3UPH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000093813
AA Change: I153T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091331
Gene: ENSMUSG00000004562
AA Change: I153T

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
Pfam:RhoGEF	1087	1246	6.1e-9	PFAM
PH	1264	1372	3.97e-8	SMART
low complexity region	1403	1424	N/A	INTRINSIC
low complexity region	1478	1491	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100639
AA Change: I153T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098204
Gene: ENSMUSG00000004562
AA Change: I153T

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
Pfam:RhoGEF	1087	1246	5.9e-9	PFAM
PH	1264	1372	3.97e-8	SMART
low complexity region	1430	1443	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182061
AA Change: I153T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138128
Gene: ENSMUSG00000004562
AA Change: I153T

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
Pfam:RhoGEF	1087	1247	3.7e-9	PFAM
PH	1264	1372	3.97e-8	SMART
low complexity region	1430	1443	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182193

Predicted Effect

probably benign
Transcript: ENSMUST00000182338

SMART Domains

Protein: ENSMUSP00000138482
Gene: ENSMUSG00000004562

Domain	Start	End	E-Value	Type
low complexity region	72	85	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182649

Predicted Effect

probably damaging
Transcript: ENSMUST00000182760
AA Change: I153T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138125
Gene: ENSMUSG00000004562
AA Change: I153T

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	782	801	N/A	INTRINSIC
low complexity region	894	923	N/A	INTRINSIC
low complexity region	967	1005	N/A	INTRINSIC
Pfam:RhoGEF	1096	1256	5.9e-9	PFAM
PH	1273	1381	3.97e-8	SMART
low complexity region	1412	1433	N/A	INTRINSIC
low complexity region	1487	1500	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182905
AA Change: I153T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138797
Gene: ENSMUSG00000004562
AA Change: I153T

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
SCOP:d1kz7a1	1073	1162	4e-7	SMART
Blast:RhoGEF	1087	1157	1e-8	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000182909
AA Change: I153T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138635
Gene: ENSMUSG00000004562
AA Change: I153T

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC
low complexity region	451	472	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	581	606	N/A	INTRINSIC
low complexity region	773	792	N/A	INTRINSIC
low complexity region	885	914	N/A	INTRINSIC
low complexity region	958	996	N/A	INTRINSIC
Pfam:RhoGEF	1087	1247	3.9e-9	PFAM
PH	1264	1372	3.97e-8	SMART
low complexity region	1403	1424	N/A	INTRINSIC
low complexity region	1478	1491	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000183208
AA Change: I153T

SMART Domains

Protein: ENSMUSP00000138354
Gene: ENSMUSG00000004562
AA Change: I153T

Domain	Start	End	E-Value	Type
low complexity region	201	223	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	332	345	N/A	INTRINSIC
low complexity region	351	395	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,765,784 (GRCm39)	M20L	probably benign	Het
Aadacl4fm1	C	T	4: 144,255,354 (GRCm39)	A258V	probably benign	Het
Abca8b	T	A	11: 109,833,163 (GRCm39)	D1241V	probably benign	Het
Adam20	G	A	8: 41,248,490 (GRCm39)	R200H	probably benign	Het
Adcy10	T	C	1: 165,340,681 (GRCm39)	F229L	probably damaging	Het
Adsl	A	T	15: 80,839,840 (GRCm39)	N126I	probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 8,984,393 (GRCm39)		probably benign	Het
Ahnak	AGATCTC	A	19: 8,984,392 (GRCm39)		probably benign	Het
Aktip	G	A	8: 91,856,355 (GRCm39)	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,811,318 (GRCm39)	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,197,734 (GRCm39)	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,331,034 (GRCm39)	L583F	probably damaging	Het
Atp1a1	T	C	3: 101,498,757 (GRCm39)	S179G	probably benign	Het
Bok	T	C	1: 93,614,229 (GRCm39)	S21P	probably damaging	Het
Ccdc136	A	G	6: 29,417,441 (GRCm39)	E754G	probably benign	Het
Cers3	A	G	7: 66,423,378 (GRCm39)	K108E	probably benign	Het
Cmya5	T	C	13: 93,201,881 (GRCm39)		probably null	Het
Col19a1	T	C	1: 24,367,148 (GRCm39)	E478G	possibly damaging	Het
Colec10	T	A	15: 54,323,180 (GRCm39)	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,784,895 (GRCm39)	I514F	probably damaging	Het
Cux1	C	T	5: 136,338,673 (GRCm39)	E664K	probably benign	Het
Dars1	T	C	1: 128,333,199 (GRCm39)	Q75R	probably benign	Het
Disp1	T	A	1: 182,917,379 (GRCm39)	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,598,299 (GRCm39)	V1412E	probably benign	Het
Ect2l	C	T	10: 18,044,182 (GRCm39)	V226I	probably benign	Het
Ep400	T	A	5: 110,904,509 (GRCm39)	H30L	unknown	Het
Ephx4	A	G	5: 107,567,647 (GRCm39)	I202V	probably benign	Het
Exoc3	A	T	13: 74,341,027 (GRCm39)	F259Y	probably damaging	Het
Ezr	T	C	17: 7,020,394 (GRCm39)	E229G	probably damaging	Het
Fat1	A	T	8: 45,470,417 (GRCm39)	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972 (GRCm39)	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064 (GRCm39)	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,798,216 (GRCm39)	M759K	probably benign	Het
Gm9922	C	T	14: 101,966,893 (GRCm39)	A120T	unknown	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,276,696 (GRCm39)	S465G	unknown	Het
Ifi204	T	C	1: 173,576,924 (GRCm39)	Y559C	probably damaging	Het
Ift88	T	C	14: 57,718,853 (GRCm39)	S613P	probably damaging	Het
Kif21a	G	C	15: 90,869,528 (GRCm39)	A441G	probably damaging	Het
Kif21a	G	T	15: 90,879,715 (GRCm39)	T191K	probably benign	Het
Lrit1	T	A	14: 36,782,084 (GRCm39)	C252*	probably null	Het
Ncbp1	T	A	4: 46,144,837 (GRCm39)	D29E	probably benign	Het
Nlrp10	A	T	7: 108,524,735 (GRCm39)	D248E	probably damaging	Het
Nphp4	T	G	4: 152,631,521 (GRCm39)	V807G	probably benign	Het
Nsd1	T	C	13: 55,393,856 (GRCm39)	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,952,550 (GRCm39)	N80K	probably damaging	Het
Oprk1	T	A	1: 5,669,096 (GRCm39)	C181S	probably damaging	Het
Oprl1	T	A	2: 181,360,212 (GRCm39)	N89K	probably damaging	Het
Or5w12	A	T	2: 87,502,105 (GRCm39)	I202N	probably benign	Het
Or8k53	G	A	2: 86,177,583 (GRCm39)	H176Y	probably benign	Het
Pdcd11	A	G	19: 47,117,741 (GRCm39)	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607 (GRCm39)	H254Y	probably benign	Het
Pds5b	A	T	5: 150,729,128 (GRCm39)	D1419V	possibly damaging	Het
Per1	G	T	11: 68,991,475 (GRCm39)	G3V	probably benign	Het
Pex16	C	A	2: 92,206,988 (GRCm39)	N55K	probably damaging	Het
Phldb2	C	A	16: 45,595,340 (GRCm39)	L862F	probably benign	Het
Pld5	T	A	1: 175,791,572 (GRCm39)	D478V	probably benign	Het
Pms2	T	C	5: 143,851,614 (GRCm39)	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,326,758 (GRCm39)	E119D	probably benign	Het
Ppp2r1a	A	C	17: 21,179,058 (GRCm39)	E295A	probably damaging	Het
Qrfprl	A	G	6: 65,433,124 (GRCm39)	I315V	probably benign	Het
Rad51ap2	A	T	12: 11,507,593 (GRCm39)	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,615,536 (GRCm39)	V434G	probably damaging	Het
Rasgrf2	C	T	13: 92,136,092 (GRCm39)	V6M		Het
Rwdd1	A	T	10: 33,877,152 (GRCm39)	D197E		Het
Scn11a	A	T	9: 119,619,076 (GRCm39)	C755*	probably null	Het
Skil	T	C	3: 31,171,009 (GRCm39)	S443P	probably benign	Het
Slc12a6	T	C	2: 112,186,817 (GRCm39)	C939R	probably damaging	Het
Slc25a36	A	G	9: 96,961,230 (GRCm39)	S269P	probably benign	Het
Srrm4	T	A	5: 116,620,452 (GRCm39)	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tbc1d4	A	T	14: 101,744,846 (GRCm39)	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,424,313 (GRCm39)	N593D	probably damaging	Het
Trex1	C	A	9: 108,887,805 (GRCm39)	R62L	probably damaging	Het
Trpm3	A	T	19: 22,692,716 (GRCm39)	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,771,211 (GRCm39)	Y439*	probably null	Het
Ttn	G	A	2: 76,564,592 (GRCm39)	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,815,571 (GRCm39)	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,033,881 (GRCm39)	I212V	possibly damaging	Het
Usp24	T	A	4: 106,204,564 (GRCm39)	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,481,960 (GRCm39)	D95V	probably benign	Het
Vwf	G	A	6: 125,601,536 (GRCm39)	R826Q		Het
Zfp1002	C	T	2: 150,096,496 (GRCm39)	R311Q	probably benign	Het
Zfp28	T	C	7: 6,396,878 (GRCm39)	C438R	probably damaging	Het

Other mutations in Arhgef40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Arhgef40	APN	14	52,226,417 (GRCm39)	missense	probably damaging	1.00
IGL00848:Arhgef40	APN	14	52,224,884 (GRCm39)	missense	probably damaging	1.00
IGL00966:Arhgef40	APN	14	52,229,155 (GRCm39)	critical splice donor site	probably null
IGL01123:Arhgef40	APN	14	52,231,803 (GRCm39)	missense	probably damaging	0.99
IGL02110:Arhgef40	APN	14	52,226,862 (GRCm39)	missense	probably damaging	1.00
IGL02490:Arhgef40	APN	14	52,226,652 (GRCm39)	missense	probably damaging	0.99
IGL02505:Arhgef40	APN	14	52,238,320 (GRCm39)	missense	probably damaging	1.00
IGL02636:Arhgef40	APN	14	52,234,865 (GRCm39)	missense	probably damaging	1.00
R0200:Arhgef40	UTSW	14	52,234,431 (GRCm39)	missense	probably damaging	0.99
R0496:Arhgef40	UTSW	14	52,242,364 (GRCm39)	unclassified	probably benign
R0608:Arhgef40	UTSW	14	52,234,431 (GRCm39)	missense	probably damaging	0.99
R0826:Arhgef40	UTSW	14	52,238,450 (GRCm39)	missense	probably benign	0.05
R1126:Arhgef40	UTSW	14	52,234,583 (GRCm39)	missense	probably damaging	0.96
R1330:Arhgef40	UTSW	14	52,227,613 (GRCm39)	missense	probably benign	0.42
R1612:Arhgef40	UTSW	14	52,241,538 (GRCm39)	missense	probably damaging	1.00
R1794:Arhgef40	UTSW	14	52,227,387 (GRCm39)	missense	possibly damaging	0.94
R1844:Arhgef40	UTSW	14	52,235,080 (GRCm39)	missense	probably damaging	0.99
R2018:Arhgef40	UTSW	14	52,241,162 (GRCm39)	missense	probably damaging	1.00
R2064:Arhgef40	UTSW	14	52,233,640 (GRCm39)	missense	probably damaging	1.00
R2321:Arhgef40	UTSW	14	52,231,733 (GRCm39)	splice site	probably benign
R3877:Arhgef40	UTSW	14	52,239,742 (GRCm39)	missense	probably damaging	1.00
R4233:Arhgef40	UTSW	14	52,227,628 (GRCm39)	missense	possibly damaging	0.50
R4596:Arhgef40	UTSW	14	52,224,681 (GRCm39)	critical splice donor site	probably null
R4676:Arhgef40	UTSW	14	52,228,416 (GRCm39)	nonsense	probably null
R4703:Arhgef40	UTSW	14	52,239,767 (GRCm39)	missense	probably damaging	1.00
R4704:Arhgef40	UTSW	14	52,239,767 (GRCm39)	missense	probably damaging	1.00
R4719:Arhgef40	UTSW	14	52,242,395 (GRCm39)	unclassified	probably benign
R4915:Arhgef40	UTSW	14	52,227,556 (GRCm39)	missense	probably damaging	1.00
R4917:Arhgef40	UTSW	14	52,227,556 (GRCm39)	missense	probably damaging	1.00
R4918:Arhgef40	UTSW	14	52,227,556 (GRCm39)	missense	probably damaging	1.00
R5097:Arhgef40	UTSW	14	52,227,146 (GRCm39)	missense	probably damaging	1.00
R5183:Arhgef40	UTSW	14	52,241,556 (GRCm39)	missense	probably damaging	0.98
R5195:Arhgef40	UTSW	14	52,227,269 (GRCm39)	missense	possibly damaging	0.68
R5367:Arhgef40	UTSW	14	52,227,156 (GRCm39)	missense	probably damaging	0.99
R5381:Arhgef40	UTSW	14	52,229,306 (GRCm39)	missense	probably damaging	0.99
R5594:Arhgef40	UTSW	14	52,233,614 (GRCm39)	missense	probably damaging	1.00
R5632:Arhgef40	UTSW	14	52,231,795 (GRCm39)	missense	probably damaging	1.00
R5665:Arhgef40	UTSW	14	52,238,357 (GRCm39)	missense	possibly damaging	0.80
R5798:Arhgef40	UTSW	14	52,234,489 (GRCm39)	missense	probably damaging	1.00
R5820:Arhgef40	UTSW	14	52,224,953 (GRCm39)	missense	possibly damaging	0.76
R6229:Arhgef40	UTSW	14	52,227,547 (GRCm39)	missense	probably benign	0.06
R6451:Arhgef40	UTSW	14	52,238,456 (GRCm39)	missense	probably damaging	1.00
R6633:Arhgef40	UTSW	14	52,234,888 (GRCm39)	missense	probably damaging	1.00
R6642:Arhgef40	UTSW	14	52,228,419 (GRCm39)	unclassified	probably benign
R6675:Arhgef40	UTSW	14	52,229,098 (GRCm39)	missense	probably damaging	0.99
R6781:Arhgef40	UTSW	14	52,235,354 (GRCm39)	intron	probably benign
R6901:Arhgef40	UTSW	14	52,234,825 (GRCm39)	missense	probably damaging	1.00
R7852:Arhgef40	UTSW	14	52,229,254 (GRCm39)	missense	unknown
R7857:Arhgef40	UTSW	14	52,226,212 (GRCm39)	missense	probably damaging	0.97
R7914:Arhgef40	UTSW	14	52,225,032 (GRCm39)	missense	probably damaging	1.00
R8060:Arhgef40	UTSW	14	52,222,452 (GRCm39)	splice site	probably benign
R8144:Arhgef40	UTSW	14	52,235,632 (GRCm39)	missense	probably damaging	1.00
R8195:Arhgef40	UTSW	14	52,226,226 (GRCm39)	missense	probably damaging	1.00
R8432:Arhgef40	UTSW	14	52,226,857 (GRCm39)	missense	probably benign	0.00
R8738:Arhgef40	UTSW	14	52,238,414 (GRCm39)	missense	probably damaging	1.00
R8830:Arhgef40	UTSW	14	52,241,165 (GRCm39)	missense	probably damaging	1.00
R9038:Arhgef40	UTSW	14	52,235,072 (GRCm39)	missense	probably damaging	0.96
U24488:Arhgef40	UTSW	14	52,235,673 (GRCm39)	missense	probably benign	0.07
X0023:Arhgef40	UTSW	14	52,241,141 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCCCAGTATAGTGGATTCCTC -3'
(R):5'- TACCAAGTACCTCCTCAGGG -3'

Sequencing Primer
(F):5'- GCCACTCTGCTTGCATGAG -3'
(R):5'- TCCTCAGGGAGTGGAGAGCTG -3'

Posted On

2022-10-06