Mutagenetix > Incidental Mutations

Incidental Mutation 'R0765:Arhgef38'

72596

Institutional Source

Beutler Lab

Gene Symbol

Arhgef38

Ensembl Gene

ENSMUSG00000040969

Gene Name

Rho guanine nucleotide exchange factor (GEF) 38

Synonyms

D630013G24Rik, 9130221D24Rik

MMRRC Submission

038945-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133112278-133234949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 133116583 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 724 (E724K)

Ref Sequence

ENSEMBL: ENSMUSP00000114238 (fasta)

Gene Model

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

AlphaFold

Q80VK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000054105
AA Change: E141K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054558
Gene: ENSMUSG00000040969
AA Change: E141K

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 damaging
Transcript: ENSMUST00000147041
AA Change: E724K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
AA Change: E724K

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

0.6395

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.8%
20x: 92.7%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	A	5: 107,506,934	D354E	probably benign	Het
Abhd16a	T	A	17: 35,101,851	V425D	probably benign	Het
Ano9	T	G	7: 141,107,184	I381L	probably damaging	Het
Apob	C	T	12: 8,016,518	L4496F	probably benign	Het
Atp8b4	T	A	2: 126,372,150		probably null	Het
Baiap2l1	G	T	5: 144,277,703	P394T	probably damaging	Het
Cnbp	C	A	6: 87,845,173	C122F	probably damaging	Het
Col3a1	A	G	1: 45,336,651		probably benign	Het
Colq	T	G	14: 31,526,037	D408A	possibly damaging	Het
Cuzd1	A	T	7: 131,316,095	S259T	probably benign	Het
Cyp3a57	A	G	5: 145,390,410		probably benign	Het
Dbn1	C	A	13: 55,482,294	V112F	probably damaging	Het
Dcc	T	A	18: 71,362,990	D1028V	probably damaging	Het
Dnajb11	T	C	16: 22,862,568	V32A	probably damaging	Het
Dsg4	G	A	18: 20,454,646		probably benign	Het
Dyrk1b	C	T	7: 28,185,711		probably benign	Het
Ebf1	T	A	11: 44,869,160	M208K	probably damaging	Het
Efhc1	A	G	1: 20,978,652	I430V	probably benign	Het
Elovl2	T	C	13: 41,187,466	Y181C	probably benign	Het
Fras1	A	G	5: 96,552,796	Q225R	probably benign	Het
Frmd3	G	A	4: 74,161,767	R332Q	probably damaging	Het
Glg1	A	G	8: 111,159,797		probably null	Het
Hmcn1	G	A	1: 150,808,787	T344M	probably damaging	Het
Il1rap	T	G	16: 26,710,632		probably null	Het
Klra1	A	T	6: 130,379,092		probably benign	Het
Larp7	C	A	3: 127,546,165	K289N	probably damaging	Het
Lgr6	C	A	1: 134,993,886	G240V	probably benign	Het
Lrp10	G	T	14: 54,468,090	D246Y	probably damaging	Het
Map3k20	G	A	2: 72,371,925	V167I	probably damaging	Het
Med23	T	C	10: 24,900,710	S347P	probably damaging	Het
Mybph	T	C	1: 134,197,496	V254A	possibly damaging	Het
Ndufv2	A	G	17: 66,101,078		probably benign	Het
Nuf2	A	T	1: 169,522,936		probably benign	Het
Nup210l	T	C	3: 90,119,877	Y189H	probably damaging	Het
Olfr1025-ps1	T	C	2: 85,918,705	L260P	probably damaging	Het
Olfr1263	G	A	2: 90,015,670	V247I	probably benign	Het
Olfr574	C	T	7: 102,948,732	T79I	probably damaging	Het
Pdgfra	C	A	5: 75,187,987		probably benign	Het
Phlpp1	T	C	1: 106,392,283	L1336P	probably damaging	Het
Prpf38b	T	C	3: 108,911,418	T9A	possibly damaging	Het
Rnf213	G	A	11: 119,423,095		probably null	Het
Saal1	A	T	7: 46,699,647	V281E	possibly damaging	Het
Slc17a3	C	T	13: 23,846,896	Q186*	probably null	Het
Slc6a2	A	G	8: 92,989,031	T266A	probably damaging	Het
Snai2	T	C	16: 14,706,804	V58A	possibly damaging	Het
Srfbp1	T	C	18: 52,490,435		probably benign	Het
Sucla2	C	T	14: 73,560,634		probably benign	Het
Tesk1	C	T	4: 43,446,706	P365S	possibly damaging	Het
Tmem127	C	A	2: 127,257,149	T201K	probably damaging	Het
Trim17	T	G	11: 58,971,369	V409G	possibly damaging	Het
Trim43c	C	T	9: 88,841,916	T165I	probably benign	Het
Ush2a	C	A	1: 188,948,574	F4916L	possibly damaging	Het
Vmn1r89	A	G	7: 13,219,540	M68V	probably benign	Het
Vmn2r105	C	T	17: 20,227,711	E284K	probably benign	Het
Vmn2r105	T	C	17: 20,227,857	D235G	probably damaging	Het
Vmn2r-ps134	C	T	17: 23,446,041		noncoding transcript	Het
Zdbf2	G	A	1: 63,305,723	S1087N	possibly damaging	Het
Zfp534	G	A	4: 147,674,236	P659S	probably damaging	Het

Other mutations in Arhgef38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Arhgef38	APN	3	133132051	missense	probably benign	0.05
IGL00533:Arhgef38	APN	3	133116459	nonsense	probably null
IGL03031:Arhgef38	APN	3	133132067	missense	possibly damaging	0.90
F5770:Arhgef38	UTSW	3	133149540	missense	probably damaging	1.00
PIT4362001:Arhgef38	UTSW	3	133160830	missense
R0050:Arhgef38	UTSW	3	133132196	missense	probably damaging	0.99
R0050:Arhgef38	UTSW	3	133132196	missense	probably damaging	0.99
R0076:Arhgef38	UTSW	3	133160746	missense	possibly damaging	0.52
R0515:Arhgef38	UTSW	3	133149540	missense	probably damaging	1.00
R0730:Arhgef38	UTSW	3	133137471	missense	probably benign	0.25
R1054:Arhgef38	UTSW	3	133116465	missense	probably damaging	1.00
R1261:Arhgef38	UTSW	3	133160863	missense	possibly damaging	0.52
R1568:Arhgef38	UTSW	3	133132464	missense	probably damaging	0.98
R1580:Arhgef38	UTSW	3	133133704	missense	probably benign	0.24
R1716:Arhgef38	UTSW	3	133140837	missense	probably benign	0.35
R1875:Arhgef38	UTSW	3	133133740	critical splice acceptor site	probably null
R2118:Arhgef38	UTSW	3	133160753	missense	probably benign	0.31
R2119:Arhgef38	UTSW	3	133160753	missense	probably benign	0.31
R2122:Arhgef38	UTSW	3	133160753	missense	probably benign	0.31
R2417:Arhgef38	UTSW	3	133146473	missense	probably damaging	1.00
R3832:Arhgef38	UTSW	3	133206925	missense	possibly damaging	0.89
R4657:Arhgef38	UTSW	3	133234681	missense	probably damaging	1.00
R4666:Arhgef38	UTSW	3	133140772	critical splice donor site	probably null
R4732:Arhgef38	UTSW	3	133132269	nonsense	probably null
R4733:Arhgef38	UTSW	3	133132269	nonsense	probably null
R5059:Arhgef38	UTSW	3	133137414	missense	probably damaging	1.00
R5108:Arhgef38	UTSW	3	133137268	missense	probably benign	0.14
R5310:Arhgef38	UTSW	3	133116466	missense	probably damaging	0.98
R5820:Arhgef38	UTSW	3	133160799	missense	probably benign	0.44
R5987:Arhgef38	UTSW	3	133206958	missense	possibly damaging	0.67
R6115:Arhgef38	UTSW	3	133132613	splice site	probably null
R6313:Arhgef38	UTSW	3	133234708	missense	possibly damaging	0.80
R6339:Arhgef38	UTSW	3	133133662	missense	probably benign	0.35
R6356:Arhgef38	UTSW	3	133140877	missense	probably benign	0.01
R6648:Arhgef38	UTSW	3	133132475	missense	probably damaging	1.00
R7050:Arhgef38	UTSW	3	133133627	start gained	probably benign
R7083:Arhgef38	UTSW	3	133132436	missense	unknown
R7561:Arhgef38	UTSW	3	133160728	missense
R7769:Arhgef38	UTSW	3	133149622	missense	unknown
R8050:Arhgef38	UTSW	3	133137562	nonsense	probably null
R8471:Arhgef38	UTSW	3	133234711	missense	probably damaging	1.00
R8835:Arhgef38	UTSW	3	133132071	missense	unknown
R9151:Arhgef38	UTSW	3	133206945	missense
R9154:Arhgef38	UTSW	3	133132163	missense	unknown
R9263:Arhgef38	UTSW	3	133160768	missense
R9367:Arhgef38	UTSW	3	133142237	missense	unknown
Z1177:Arhgef38	UTSW	3	133206961	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGGGAAGCAAGATTTGTCTTCAAAACG -3'
(R):5'- GTGTGACTGTCAAAAGCAAGAACACC -3'

Sequencing Primer
(F):5'- GTCTTCAAAACGTGATACACTGTTC -3'
(R):5'- GAACACCTTAGCAGTGCTTC -3'

Posted On

2013-09-30