Mutagenetix > Incidental Mutation

Incidental Mutation 'R2417:Arhgef38'

249025

Institutional Source

Beutler Lab

Gene Symbol

Arhgef38

Ensembl Gene

ENSMUSG00000040969

Gene Name

Rho guanine nucleotide exchange factor 38

Synonyms

D630013G24Rik, 9130221D24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132818039-132940710 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132852234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 319 (K319E)

Ref Sequence

ENSEMBL: ENSMUSP00000114238 (fasta)

Gene Model

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

AlphaFold

Q80VK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000147041
AA Change: K319E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
AA Change: K319E

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	A	17: 41,191,101 (GRCm39)	K109N	probably benign	Het
Adcy3	T	C	12: 4,258,627 (GRCm39)	V848A	probably benign	Het
Ahnak2	G	A	12: 112,741,805 (GRCm39)	P756S	probably damaging	Het
Alpk3	C	A	7: 80,742,501 (GRCm39)	P773T	probably benign	Het
Bbs7	C	T	3: 36,646,546 (GRCm39)	A425T	probably damaging	Het
Cacna1e	T	A	1: 154,347,939 (GRCm39)	R879W	probably damaging	Het
Cfap65	GTCTT	GTCTTCTT	1: 74,966,345 (GRCm39)		probably benign	Het
Cpsf7	T	C	19: 10,503,332 (GRCm39)		probably benign	Het
Ctf2	A	G	7: 127,318,759 (GRCm39)	V80A	probably benign	Het
Ddhd1	A	G	14: 45,894,729 (GRCm39)	L30P	probably damaging	Het
Eml1	A	G	12: 108,502,534 (GRCm39)	D700G	probably benign	Het
Epha7	C	T	4: 28,947,579 (GRCm39)	P613L	probably damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Itih3	G	A	14: 30,639,621 (GRCm39)	T400I	probably benign	Het
Lrrc14	T	A	15: 76,597,621 (GRCm39)	L117Q	probably damaging	Het
Ncbp1	C	T	4: 46,168,530 (GRCm39)	S626L	probably benign	Het
Nefh	C	T	11: 4,889,479 (GRCm39)	D1047N	unknown	Het
Ptprm	T	G	17: 67,251,321 (GRCm39)	T519P	probably damaging	Het
Sorl1	T	G	9: 41,892,007 (GRCm39)	D1881A	probably damaging	Het
Sox12	T	C	2: 152,238,717 (GRCm39)	D301G	possibly damaging	Het
Vmn2r14	C	T	5: 109,372,329 (GRCm39)	E54K	probably benign	Het
Vmn2r26	A	G	6: 124,038,309 (GRCm39)	N628S	probably damaging	Het
Zfp143	G	A	7: 109,668,803 (GRCm39)	V36M	possibly damaging	Het
Zfp850	A	T	7: 27,688,608 (GRCm39)	N533K	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
R0730:Arhgef38	UTSW	3	132,843,232 (GRCm39)	missense	probably benign	0.25
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
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'- GGGGCACTCACTTTGTTTCG -3'
(R):5'- TCCCTGAGGAAGAGAGTTAAAATCC -3'

Sequencing Primer
(F):5'- CGTGTTCTAGATCGATTCACGG -3'
(R):5'- GTTCTGTCCTCAGTAGAAACATTGG -3'

Posted On

2014-11-12