Mutagenetix > Incidental Mutation

Incidental Mutation 'R0730:Arhgef38'

67444

Institutional Source

Beutler Lab

Gene Symbol

Arhgef38

Ensembl Gene

ENSMUSG00000040969

Gene Name

Rho guanine nucleotide exchange factor 38

Synonyms

D630013G24Rik, 9130221D24Rik

MMRRC Submission

038911-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0730 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132818039-132940710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132843232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 446 (Y446F)

Ref Sequence

ENSEMBL: ENSMUSP00000114238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054105] [ENSMUST00000147041]

AlphaFold

Q80VK6

Predicted Effect

probably benign
Transcript: ENSMUST00000054105

SMART Domains

Protein: ENSMUSP00000054558
Gene: ENSMUSG00000040969

Domain	Start	End	E-Value	Type
SH3	1	60	5.56e-1	SMART
low complexity region	95	106	N/A	INTRINSIC
SH3	126	189	8.2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147041
AA Change: Y446F

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
AA Change: Y446F

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
RhoGEF	98	284	2.72e-33	SMART
low complexity region	296	312	N/A	INTRINSIC
BAR	315	514	4.8e-29	SMART
SH3	584	643	5.56e-1	SMART
low complexity region	678	689	N/A	INTRINSIC
SH3	709	768	1.95e-10	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.1%

Validation Efficiency

99% (99/100)

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	T	8: 25,486,774 (GRCm39)	I168N	probably benign	Het
Adamts20	G	A	15: 94,245,571 (GRCm39)	A577V	probably benign	Het
Agtr1a	A	T	13: 30,565,279 (GRCm39)	S115C	probably damaging	Het
Ankrd11	T	C	8: 123,618,692 (GRCm39)	Y1720C	probably damaging	Het
Ano6	A	T	15: 95,818,252 (GRCm39)	T353S	probably damaging	Het
App	A	G	16: 84,876,840 (GRCm39)	F184L	probably damaging	Het
Aspg	T	A	12: 112,078,693 (GRCm39)	Y57*	probably null	Het
Atp1a4	G	A	1: 172,067,774 (GRCm39)		probably benign	Het
Bdp1	G	A	13: 100,195,459 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,531,717 (GRCm39)	S246T	possibly damaging	Het
Brd10	T	A	19: 29,695,381 (GRCm39)	I1438F	probably benign	Het
Bsn	T	A	9: 107,984,011 (GRCm39)	M3348L	unknown	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cacna2d3	T	C	14: 28,704,322 (GRCm39)	I820V	probably benign	Het
Cdc40	A	G	10: 40,720,952 (GRCm39)		probably benign	Het
Cdh23	T	C	10: 60,159,493 (GRCm39)	E2094G	probably damaging	Het
Celsr2	T	A	3: 108,305,922 (GRCm39)	N2061Y	probably damaging	Het
Cfap206	G	A	4: 34,711,391 (GRCm39)	A502V	probably benign	Het
Cfap54	T	C	10: 92,870,599 (GRCm39)	T29A	probably benign	Het
Cfap57	T	C	4: 118,470,117 (GRCm39)		probably null	Het
Chd5	A	G	4: 152,432,441 (GRCm39)	E43G	possibly damaging	Het
Clk1	G	A	1: 58,453,558 (GRCm39)	H343Y	probably benign	Het
Cntn4	A	C	6: 106,527,447 (GRCm39)	K443T	probably damaging	Het
Csn2	G	A	5: 87,842,811 (GRCm39)	A72V	possibly damaging	Het
Ctdp1	T	A	18: 80,493,457 (GRCm39)	H346L	probably benign	Het
Ctif	A	T	18: 75,698,083 (GRCm39)	N192K	probably damaging	Het
Ddr2	G	A	1: 169,823,135 (GRCm39)	A383V	probably benign	Het
Derl3	C	T	10: 75,731,076 (GRCm39)		probably benign	Het
Dgkh	T	C	14: 78,821,919 (GRCm39)	I865V	probably damaging	Het
Dip2b	C	T	15: 100,069,532 (GRCm39)	A619V	probably damaging	Het
Elapor1	T	A	3: 108,376,851 (GRCm39)	H509L	probably benign	Het
Eml1	A	G	12: 108,496,585 (GRCm39)	T614A	possibly damaging	Het
Eogt	G	C	6: 97,092,970 (GRCm39)	Y402*	probably null	Het
Erbb4	A	G	1: 68,298,449 (GRCm39)	V647A	probably damaging	Het
Esm1	G	T	13: 113,350,036 (GRCm39)		probably null	Het
Fbxo31	A	G	8: 122,282,103 (GRCm39)		probably benign	Het
Fbxw5	T	A	2: 25,394,630 (GRCm39)	D201E	possibly damaging	Het
Fgfr1	G	A	8: 26,045,760 (GRCm39)	D123N	probably benign	Het
G530012D18Rik	A	C	1: 85,504,757 (GRCm39)		probably benign	Het
Gnat1	G	A	9: 107,556,662 (GRCm39)	T29I	probably damaging	Het
Gtf2ird2	A	T	5: 134,221,597 (GRCm39)	R67*	probably null	Het
Il22b	A	T	10: 118,130,142 (GRCm39)	D87E	probably benign	Het
Kcnq3	T	C	15: 65,867,457 (GRCm39)	T729A	probably benign	Het
Klrc2	A	T	6: 129,635,659 (GRCm39)	S156R	probably damaging	Het
Krt76	A	T	15: 101,795,784 (GRCm39)	L462Q	probably damaging	Het
Lama3	C	A	18: 12,589,907 (GRCm39)		probably benign	Het
Lin28a	A	T	4: 133,735,319 (GRCm39)	S56T	probably damaging	Het
Macf1	A	G	4: 123,276,323 (GRCm39)		probably benign	Het
Macrod2	C	T	2: 142,059,594 (GRCm39)		probably benign	Het
Mansc1	C	T	6: 134,594,424 (GRCm39)		probably benign	Het
Map1b	G	T	13: 99,566,274 (GRCm39)	S2149*	probably null	Het
Mgst1	A	T	6: 138,124,667 (GRCm39)	T34S	probably benign	Het
Mlf2	C	T	6: 124,911,354 (GRCm39)	T123M	probably damaging	Het
Mospd2	C	T	X: 163,731,253 (GRCm39)		probably benign	Het
Mrpl15	A	T	1: 4,847,834 (GRCm39)	V155E	probably damaging	Het
Mstn	A	T	1: 53,100,953 (GRCm39)	Y10F	possibly damaging	Het
Myo1g	C	T	11: 6,470,794 (GRCm39)	V21M	probably damaging	Het
Myom2	T	C	8: 15,149,326 (GRCm39)	I599T	probably benign	Het
Ndc80	A	T	17: 71,803,241 (GRCm39)	N633K	probably benign	Het
Nhs	C	A	X: 160,620,296 (GRCm39)	V1487L	possibly damaging	Het
Npc1	T	C	18: 12,352,382 (GRCm39)	T106A	probably benign	Het
Nup133	C	T	8: 124,675,747 (GRCm39)	V57M	probably benign	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Oprm1	T	C	10: 6,782,652 (GRCm39)		probably benign	Het
Or5j1	T	C	2: 86,879,492 (GRCm39)	I29M	probably benign	Het
Or6c219	T	A	10: 129,780,980 (GRCm39)	H317L	probably benign	Het
Or8j3	A	G	2: 86,029,069 (GRCm39)	V9A	probably benign	Het
Ostf1	C	T	19: 18,581,571 (GRCm39)	V14I	unknown	Het
Pcdhb14	C	A	18: 37,581,921 (GRCm39)	D342E	probably damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pdpr	T	C	8: 111,852,387 (GRCm39)		probably null	Het
Plce1	G	A	19: 38,705,135 (GRCm39)	V847M	probably damaging	Het
Pon3	A	G	6: 5,230,444 (GRCm39)	M288T	probably benign	Het
Psd2	A	T	18: 36,111,627 (GRCm39)	D84V	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgapa1	T	C	12: 55,712,448 (GRCm39)	K1808E	probably damaging	Het
Ramp3	T	C	11: 6,626,476 (GRCm39)		probably benign	Het
Rasgrf1	T	A	9: 89,833,062 (GRCm39)		probably benign	Het
Rictor	A	G	15: 6,803,467 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,775,780 (GRCm39)	I984F	probably benign	Het
Slc1a6	C	T	10: 78,631,842 (GRCm39)	P223S	probably benign	Het
Taar8b	A	C	10: 23,967,924 (GRCm39)	V90G	probably damaging	Het
Tbc1d21	A	G	9: 58,267,160 (GRCm39)	V327A	probably benign	Het
Tex21	T	C	12: 76,250,940 (GRCm39)	T499A	probably benign	Het
Tg	A	T	15: 66,550,638 (GRCm39)	D256V	probably damaging	Het
Tmf1	A	G	6: 97,153,453 (GRCm39)	S207P	probably benign	Het
Tpr	A	G	1: 150,269,158 (GRCm39)		probably benign	Het
Ufd1	A	G	16: 18,633,637 (GRCm39)	T21A	probably damaging	Het
Unc13a	T	C	8: 72,108,929 (GRCm39)	D115G	possibly damaging	Het
Usb1	T	A	8: 96,070,669 (GRCm39)	F198L	probably damaging	Het
Utrn	A	T	10: 12,573,902 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,233,276 (GRCm39)	N954S	probably damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Wdr33	C	T	18: 31,968,429 (GRCm39)		probably benign	Het
Zfp236	A	G	18: 82,658,369 (GRCm39)		probably benign	Het
Zfp445	A	T	9: 122,690,823 (GRCm39)	V124E	probably damaging	Het
Zfp616	A	T	11: 73,975,648 (GRCm39)	H639L	probably damaging	Het
Zfyve16	C	A	13: 92,657,985 (GRCm39)	S642I	probably damaging	Het
Zswim5	C	T	4: 116,842,943 (GRCm39)	T896I	possibly damaging	Het

Other mutations in Arhgef38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Arhgef38	APN	3	132,837,812 (GRCm39)	missense	probably benign	0.05
IGL00533:Arhgef38	APN	3	132,822,220 (GRCm39)	nonsense	probably null
IGL03031:Arhgef38	APN	3	132,837,828 (GRCm39)	missense	possibly damaging	0.90
F5770:Arhgef38	UTSW	3	132,855,301 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Arhgef38	UTSW	3	132,866,591 (GRCm39)	missense
R0050:Arhgef38	UTSW	3	132,837,957 (GRCm39)	missense	probably damaging	0.99
R0050:Arhgef38	UTSW	3	132,837,957 (GRCm39)	missense	probably damaging	0.99
R0076:Arhgef38	UTSW	3	132,866,507 (GRCm39)	missense	possibly damaging	0.52
R0515:Arhgef38	UTSW	3	132,855,301 (GRCm39)	missense	probably damaging	1.00
R0765:Arhgef38	UTSW	3	132,822,344 (GRCm39)	missense	probably damaging	1.00
R1054:Arhgef38	UTSW	3	132,822,226 (GRCm39)	missense	probably damaging	1.00
R1261:Arhgef38	UTSW	3	132,866,624 (GRCm39)	missense	possibly damaging	0.52
R1568:Arhgef38	UTSW	3	132,838,225 (GRCm39)	missense	probably damaging	0.98
R1580:Arhgef38	UTSW	3	132,839,465 (GRCm39)	missense	probably benign	0.24
R1716:Arhgef38	UTSW	3	132,846,598 (GRCm39)	missense	probably benign	0.35
R1875:Arhgef38	UTSW	3	132,839,501 (GRCm39)	critical splice acceptor site	probably null
R2118:Arhgef38	UTSW	3	132,866,514 (GRCm39)	missense	probably benign	0.31
R2119:Arhgef38	UTSW	3	132,866,514 (GRCm39)	missense	probably benign	0.31
R2122:Arhgef38	UTSW	3	132,866,514 (GRCm39)	missense	probably benign	0.31
R2417:Arhgef38	UTSW	3	132,852,234 (GRCm39)	missense	probably damaging	1.00
R3832:Arhgef38	UTSW	3	132,912,686 (GRCm39)	missense	possibly damaging	0.89
R4657:Arhgef38	UTSW	3	132,940,442 (GRCm39)	missense	probably damaging	1.00
R4666:Arhgef38	UTSW	3	132,846,533 (GRCm39)	critical splice donor site	probably null
R4732:Arhgef38	UTSW	3	132,838,030 (GRCm39)	nonsense	probably null
R4733:Arhgef38	UTSW	3	132,838,030 (GRCm39)	nonsense	probably null
R5059:Arhgef38	UTSW	3	132,843,175 (GRCm39)	missense	probably damaging	1.00
R5108:Arhgef38	UTSW	3	132,843,029 (GRCm39)	missense	probably benign	0.14
R5310:Arhgef38	UTSW	3	132,822,227 (GRCm39)	missense	probably damaging	0.98
R5820:Arhgef38	UTSW	3	132,866,560 (GRCm39)	missense	probably benign	0.44
R5987:Arhgef38	UTSW	3	132,912,719 (GRCm39)	missense	possibly damaging	0.67
R6115:Arhgef38	UTSW	3	132,838,374 (GRCm39)	splice site	probably null
R6313:Arhgef38	UTSW	3	132,940,469 (GRCm39)	missense	possibly damaging	0.80
R6339:Arhgef38	UTSW	3	132,839,423 (GRCm39)	missense	probably benign	0.35
R6356:Arhgef38	UTSW	3	132,846,638 (GRCm39)	missense	probably benign	0.01
R6648:Arhgef38	UTSW	3	132,838,236 (GRCm39)	missense	probably damaging	1.00
R7050:Arhgef38	UTSW	3	132,839,388 (GRCm39)	start gained	probably benign
R7083:Arhgef38	UTSW	3	132,838,197 (GRCm39)	missense	unknown
R7561:Arhgef38	UTSW	3	132,866,489 (GRCm39)	missense
R7769:Arhgef38	UTSW	3	132,855,383 (GRCm39)	missense	unknown
R8050:Arhgef38	UTSW	3	132,843,323 (GRCm39)	nonsense	probably null
R8471:Arhgef38	UTSW	3	132,940,472 (GRCm39)	missense	probably damaging	1.00
R8835:Arhgef38	UTSW	3	132,837,832 (GRCm39)	missense	unknown
R9151:Arhgef38	UTSW	3	132,912,706 (GRCm39)	missense
R9154:Arhgef38	UTSW	3	132,837,924 (GRCm39)	missense	unknown
R9263:Arhgef38	UTSW	3	132,866,529 (GRCm39)	missense
R9367:Arhgef38	UTSW	3	132,847,998 (GRCm39)	missense	unknown
R9628:Arhgef38	UTSW	3	132,838,025 (GRCm39)	missense	unknown
R9799:Arhgef38	UTSW	3	132,855,391 (GRCm39)	missense	unknown
Z1177:Arhgef38	UTSW	3	132,912,722 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGTCTTGACTGTGGAGTAAGCCTG -3'
(R):5'- GCTGGAGAGCAAGCTTCTCTTGAC -3'

Sequencing Primer
(F):5'- TGCAGAGCCACCTGCATC -3'
(R):5'- CAAATAACTGGATGCTGTCCTG -3'

Posted On

2013-09-03