Mutagenetix > Incidental Mutation

Incidental Mutation 'R9000:Arhgef37'

684945

Institutional Source

Beutler Lab

Gene Symbol

Arhgef37

Ensembl Gene

ENSMUSG00000045094

Gene Name

Rho guanine nucleotide exchange factor 37

Synonyms

4933429F08Rik

MMRRC Submission

068831-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R9000 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61624728-61669665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61637333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 443 (M443K)

Ref Sequence

ENSEMBL: ENSMUSP00000130560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171629]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171629
AA Change: M443K

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130560
Gene: ENSMUSG00000045094
AA Change: M443K

Domain	Start	End	E-Value	Type
RhoGEF	34	212	2.62e-35	SMART
Pfam:BAR	311	444	5.6e-10	PFAM
SH3	509	568	8.06e-1	SMART
SH3	606	665	2.56e-14	SMART

Meta Mutation Damage Score

0.1725

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

90% (55/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,353,195 (GRCm39)	N749S	probably damaging	Het
Acsl5	T	C	19: 55,283,943 (GRCm39)	*684Q	probably null	Het
Actr5	A	T	2: 158,478,610 (GRCm39)	T487S	probably benign	Het
Adam18	T	A	8: 25,127,162 (GRCm39)	H478L	probably benign	Het
Adam5	A	T	8: 25,294,372 (GRCm39)		probably null	Het
Adamts3	T	C	5: 89,854,570 (GRCm39)	N475S	probably benign	Het
Akap9	G	A	5: 4,105,650 (GRCm39)	R2907H	probably benign	Het
Anapc1	A	G	2: 128,476,628 (GRCm39)	V1330A	probably damaging	Het
Atp13a1	T	A	8: 70,254,725 (GRCm39)	H753Q	probably damaging	Het
C2cd3	A	G	7: 100,065,281 (GRCm39)	H311R		Het
Cdh23	A	G	10: 60,140,277 (GRCm39)	Y3222H	possibly damaging	Het
Ces2f	A	G	8: 105,677,661 (GRCm39)	D222G	probably benign	Het
Cnot9	C	T	1: 74,561,544 (GRCm39)	R130C	probably benign	Het
Cntnap2	G	A	6: 46,461,139 (GRCm39)		probably benign	Het
Daam2	A	G	17: 49,769,197 (GRCm39)	L932P	probably damaging	Het
Dgki	T	C	6: 37,074,643 (GRCm39)		probably benign	Het
Dync1h1	A	C	12: 110,606,397 (GRCm39)	Q2489P	probably benign	Het
Elovl2	A	G	13: 41,338,810 (GRCm39)	L280S	probably benign	Het
Fat1	C	A	8: 45,497,587 (GRCm39)	Y4357*	probably null	Het
Fat3	T	A	9: 15,871,816 (GRCm39)	Q3525L	possibly damaging	Het
Fat3	T	C	9: 15,918,095 (GRCm39)	I1443V	probably benign	Het
Fzd1	A	G	5: 4,806,211 (GRCm39)	I457T	probably damaging	Het
Kcnq5	G	T	1: 21,557,483 (GRCm39)	F332L	probably damaging	Het
Meiob	A	G	17: 25,047,916 (GRCm39)		probably benign	Het
Mrgprb4	A	G	7: 47,848,769 (GRCm39)	L53P	probably damaging	Het
Myt1l	G	A	12: 29,901,740 (GRCm39)	V832I	unknown	Het
Nckap5l	G	A	15: 99,321,310 (GRCm39)	P1186S	probably damaging	Het
Ndufa4l2	A	T	10: 127,350,898 (GRCm39)	R16S	probably benign	Het
Nrg2	T	C	18: 36,151,682 (GRCm39)	Y620C	probably damaging	Het
Or4p4b-ps1	T	A	2: 88,454,525 (GRCm39)	*293R	probably null	Het
Or52a24	T	C	7: 103,381,672 (GRCm39)	S180P	probably damaging	Het
Pip4k2a	T	G	2: 18,877,240 (GRCm39)	Y165S	possibly damaging	Het
Plcd4	T	A	1: 74,601,024 (GRCm39)	C500*	probably null	Het
Plcl1	C	T	1: 55,736,990 (GRCm39)	P777L	probably damaging	Het
Pnliprp2	T	C	19: 58,762,555 (GRCm39)	Y387H	probably benign	Het
Prdm15	A	T	16: 97,595,470 (GRCm39)	D1119E	probably benign	Het
Prss51	T	C	14: 64,332,420 (GRCm39)	S36P	possibly damaging	Het
Prune1	A	G	3: 95,162,635 (GRCm39)	V346A	probably benign	Het
Saxo5	T	C	8: 3,526,083 (GRCm39)	S79P	possibly damaging	Het
Scn5a	T	C	9: 119,321,171 (GRCm39)	T1464A	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGGG	GGGGCCCAGCTCAGCCACAGGG	7: 126,066,743 (GRCm39)		probably benign	Het
Sim1	T	G	10: 50,860,316 (GRCm39)	I726S	probably benign	Het
Sim1	T	G	10: 50,860,317 (GRCm39)	I726M	possibly damaging	Het
Slc38a4	G	A	15: 96,897,475 (GRCm39)	P447S	possibly damaging	Het
Slc5a12	A	G	2: 110,454,525 (GRCm39)	E362G	probably damaging	Het
Slc5a8	C	A	10: 88,762,089 (GRCm39)	N576K	probably benign	Het
Slc5a8	T	A	10: 88,762,090 (GRCm39)	Y577N	probably benign	Het
Snn	A	G	16: 10,890,322 (GRCm39)	E47G	probably damaging	Het
Snx19	T	C	9: 30,375,619 (GRCm39)	V207A	unknown	Het
Srcap	G	A	7: 127,130,943 (GRCm39)	V720I	possibly damaging	Het
Syn3	T	A	10: 85,893,489 (GRCm39)	R451S	unknown	Het
Tdrp	A	G	8: 14,003,989 (GRCm39)	V116A	probably benign	Het
Tef	G	A	15: 81,695,773 (GRCm39)	M1I	probably null	Het
Vmn1r232	T	C	17: 21,134,111 (GRCm39)	K163R	probably damaging	Het
Wrnip1	A	G	13: 32,986,711 (GRCm39)	E164G	probably damaging	Het
Zcchc14	T	G	8: 122,336,880 (GRCm39)	H178P	unknown	Het
Zfp37	T	G	4: 62,126,651 (GRCm39)	K69T	unknown	Het
Zfp947	A	G	17: 22,365,161 (GRCm39)	L171P	probably benign	Het

Other mutations in Arhgef37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Arhgef37	APN	18	61,656,942 (GRCm39)	missense	probably damaging	1.00
IGL00801:Arhgef37	APN	18	61,632,905 (GRCm39)	missense	probably damaging	1.00
IGL01146:Arhgef37	APN	18	61,651,081 (GRCm39)	missense	possibly damaging	0.93
IGL02052:Arhgef37	APN	18	61,632,839 (GRCm39)	missense	probably damaging	1.00
IGL02489:Arhgef37	APN	18	61,639,540 (GRCm39)	missense	possibly damaging	0.91
IGL03236:Arhgef37	APN	18	61,656,897 (GRCm39)	missense	probably damaging	1.00
R0715:Arhgef37	UTSW	18	61,641,860 (GRCm39)	missense	probably damaging	0.98
R0746:Arhgef37	UTSW	18	61,651,064 (GRCm39)	critical splice donor site	probably null
R1843:Arhgef37	UTSW	18	61,651,121 (GRCm39)	missense	probably damaging	0.99
R1934:Arhgef37	UTSW	18	61,657,014 (GRCm39)	missense	probably benign	0.00
R1980:Arhgef37	UTSW	18	61,641,767 (GRCm39)	missense	probably damaging	0.98
R2012:Arhgef37	UTSW	18	61,637,427 (GRCm39)	missense	possibly damaging	0.56
R2237:Arhgef37	UTSW	18	61,637,477 (GRCm39)	missense	probably damaging	1.00
R3024:Arhgef37	UTSW	18	61,634,959 (GRCm39)	missense	probably damaging	0.96
R4864:Arhgef37	UTSW	18	61,627,996 (GRCm39)	missense	probably benign
R4876:Arhgef37	UTSW	18	61,631,310 (GRCm39)	nonsense	probably null
R5024:Arhgef37	UTSW	18	61,639,511 (GRCm39)	missense	probably damaging	0.99
R5050:Arhgef37	UTSW	18	61,637,402 (GRCm39)	missense	probably benign	0.43
R5512:Arhgef37	UTSW	18	61,632,845 (GRCm39)	nonsense	probably null
R5611:Arhgef37	UTSW	18	61,640,334 (GRCm39)	missense	probably benign	0.03
R6051:Arhgef37	UTSW	18	61,640,345 (GRCm39)	missense	probably damaging	0.97
R6488:Arhgef37	UTSW	18	61,651,123 (GRCm39)	missense	probably benign	0.43
R6612:Arhgef37	UTSW	18	61,627,952 (GRCm39)	missense	probably benign
R7117:Arhgef37	UTSW	18	61,637,481 (GRCm39)	missense	probably benign	0.00
R7351:Arhgef37	UTSW	18	61,631,286 (GRCm39)	missense	possibly damaging	0.93
R7426:Arhgef37	UTSW	18	61,637,456 (GRCm39)	missense	probably damaging	1.00
R7571:Arhgef37	UTSW	18	61,637,403 (GRCm39)	missense	probably damaging	0.97
R7992:Arhgef37	UTSW	18	61,638,827 (GRCm39)	missense	probably benign	0.03
R8493:Arhgef37	UTSW	18	61,640,277 (GRCm39)	missense	probably benign	0.03
R8936:Arhgef37	UTSW	18	61,656,948 (GRCm39)	missense	probably damaging	0.98
R9053:Arhgef37	UTSW	18	61,641,760 (GRCm39)	missense	probably damaging	1.00
R9298:Arhgef37	UTSW	18	61,651,072 (GRCm39)	missense	probably damaging	0.98
R9490:Arhgef37	UTSW	18	61,641,907 (GRCm39)	missense	probably damaging	1.00
R9559:Arhgef37	UTSW	18	61,640,267 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGCCTCCACAAGAGAAAGAG -3'
(R):5'- CTGGACTTCGATCGAGTAGAG -3'

Sequencing Primer
(F):5'- CTGCCTCCACAAGAGAAAGAGAAAAG -3'
(R):5'- AAGCTGTTAGATGTGGGCAGC -3'

Posted On

2021-10-11