Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Arhgef38'

17989

Institutional Source

Beutler Lab

Gene Symbol

Arhgef38

Ensembl Gene

ENSMUSG00000040969

Gene Name

Rho guanine nucleotide exchange factor (GEF) 38

Synonyms

D630013G24Rik, 9130221D24Rik

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

133112278-133234949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133160746 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 210 (H210L)

Ref Sequence

ENSEMBL: ENSMUSP00000114238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000147041] [ENSMUST00000161022]

AlphaFold

Q80VK6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147041
AA Change: H210L

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
AA Change: H210L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161022
AA Change: H210L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124280
Gene: ENSMUSG00000040969
AA Change: H210L

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
Pfam:RhoGEF	98	219	2e-24	PFAM

Coding Region Coverage

1x: 89.9%
3x: 87.5%
10x: 81.6%
20x: 72.8%

Validation Efficiency

92% (83/90)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 120,373,685		probably benign	Het
Acpp	A	G	9: 104,324,218		probably benign	Het
Ada	T	A	2: 163,727,603		probably benign	Het
Ankrd17	T	A	5: 90,244,406	K1693*	probably null	Het
Car10	G	A	11: 93,490,597	E129K	possibly damaging	Het
Cask	A	G	X: 13,678,274		probably benign	Het
Cd19	T	C	7: 126,410,862	D406G	probably damaging	Het
Cd93	T	C	2: 148,442,136	D430G	probably benign	Het
Cds1	T	C	5: 101,817,840		probably benign	Het
Cerkl	A	T	2: 79,343,289	S259T	possibly damaging	Het
Cog8	T	C	8: 107,054,133	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,218,713	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,237,497		probably null	Het
Dcc	G	A	18: 71,321,046	Q1241*	probably null	Het
Dock3	A	C	9: 106,911,486		probably benign	Het
Dus1l	A	T	11: 120,792,808		probably benign	Het
Dvl2	G	A	11: 70,008,100	E438K	probably damaging	Het
Eif3g	A	G	9: 20,897,753	F85S	probably damaging	Het
Fam234b	A	G	6: 135,227,226	M456V	probably benign	Het
Fbxo47	G	A	11: 97,857,655		probably benign	Het
Fyb2	A	G	4: 104,945,464	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,148,636	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,353,132		noncoding transcript	Het
Gmfb	C	A	14: 46,817,455	A11S	probably benign	Het
Gpat4	G	A	8: 23,190,705		probably benign	Het
Ifitm6	T	A	7: 141,016,007	R124S	possibly damaging	Het
Il17rd	T	A	14: 27,094,854	L172Q	probably damaging	Het
Il4	A	T	11: 53,613,914	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,575,909	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,830,059		probably benign	Het
Maats1	G	A	16: 38,302,684	Q661*	probably null	Het
Mark1-ps1	T	A	17: 53,947,877		noncoding transcript	Het
Mndal	G	T	1: 173,874,447	C96*	probably null	Het
Mroh1	T	C	15: 76,451,140	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,485,442		probably benign	Het
Mthfsd	C	A	8: 121,098,739	V270F	probably benign	Het
Nbas	T	A	12: 13,324,336	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,478,359	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,715,518	Y131F	possibly damaging	Het
Plec	T	C	15: 76,191,414		probably benign	Het
Polr2b	T	A	5: 77,326,561	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,587,836	Q106*	probably null	Het
Ptprd	T	C	4: 75,947,039		probably benign	Het
Rad54b	G	A	4: 11,609,480		probably benign	Het
Rspo1	G	A	4: 124,991,397	R22Q	probably benign	Het
Scn7a	A	G	2: 66,714,037	V370A	probably benign	Het
Sec1	A	G	7: 45,678,891	V244A	probably damaging	Het
Serac1	A	G	17: 6,064,937		probably benign	Het
Slco2b1	A	T	7: 99,685,501	Y254*	probably null	Het
Steap3	G	A	1: 120,227,730	R500C	probably damaging	Het
Stk10	A	G	11: 32,603,722	T580A	probably benign	Het
Tpo	C	T	12: 30,104,023	G228R	probably damaging	Het
Tpx2	T	C	2: 152,893,683	F744L	probably damaging	Het
Ube3b	G	T	5: 114,408,217		probably null	Het
Vmn2r84	A	G	10: 130,394,193	S17P	probably damaging	Het
Vps13d	A	T	4: 145,164,694		probably benign	Het
Zfp532	T	A	18: 65,685,627	S851R	probably benign	Het
Zfp623	G	A	15: 75,947,209	E5K	probably benign	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
R0515:Arhgef38	UTSW	3	133149540	missense	probably damaging	1.00
R0730:Arhgef38	UTSW	3	133137471	missense	probably benign	0.25
R0765:Arhgef38	UTSW	3	133116583	missense	probably damaging	1.00
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
R9628:Arhgef38	UTSW	3	133132264	missense	unknown
R9799:Arhgef38	UTSW	3	133149630	missense	unknown
Z1177:Arhgef38	UTSW	3	133206961	nonsense	probably null

Posted On

2013-03-25