Mutagenetix > Incidental Mutation

Incidental Mutation 'R1261:Arhgef38'

151592

Institutional Source

Beutler Lab

Gene Symbol

Arhgef38

Ensembl Gene

ENSMUSG00000040969

Gene Name

Rho guanine nucleotide exchange factor 38

Synonyms

D630013G24Rik, 9130221D24Rik

MMRRC Submission

039328-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1261 (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 132866624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 171 (E171G)

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: E171G

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

SMART Domains

Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
AA Change: E171G

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: E171G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124280
Gene: ENSMUSG00000040969
AA Change: E171G

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: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,912,470 (GRCm39)	V114A	probably benign	Het
Arsi	A	G	18: 61,049,743 (GRCm39)	T209A	probably damaging	Het
Bmp3	A	T	5: 99,027,785 (GRCm39)	R468S	probably damaging	Het
Cenpk	T	A	13: 104,367,293 (GRCm39)	V43E	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cul9	G	T	17: 46,836,708 (GRCm39)	L1106M	probably damaging	Het
Dnajc9	G	A	14: 20,438,765 (GRCm39)		probably null	Het
Enpp3	A	T	10: 24,650,832 (GRCm39)	V768E	probably damaging	Het
Klk1b5	T	C	7: 43,494,714 (GRCm39)	S66P	probably damaging	Het
Lrriq1	T	C	10: 103,069,998 (GRCm39)	D6G	possibly damaging	Het
Myh7b	A	G	2: 155,463,003 (GRCm39)	K453R	probably benign	Het
Nipsnap3b	G	T	4: 53,015,166 (GRCm39)	G71V	probably damaging	Het
Oas1h	A	G	5: 121,009,930 (GRCm39)	E335G	probably benign	Het
Or5g25	A	C	2: 85,478,143 (GRCm39)	I174S	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Slc10a1	T	A	12: 81,014,604 (GRCm39)	M39L	probably damaging	Het
Tas1r2	G	A	4: 139,382,599 (GRCm39)	R79Q	probably damaging	Het
Thoc2l	A	G	5: 104,668,501 (GRCm39)	T1008A	probably damaging	Het
Tmprss11d	T	C	5: 86,457,239 (GRCm39)	D140G	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
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'- GTCGCCTTCCGAGAAAGACCTTAC -3'
(R):5'- TGATTCTGTGTGCCAACCCATTAGC -3'

Sequencing Primer
(F):5'- ACGCTGTGTGCTTCATCA -3'
(R):5'- agaaaagaagagaggaaaagggag -3'

Posted On

2014-01-29