Mutagenetix > Incidental Mutation

Incidental Mutation 'R7968:4930590J08Rik'

650461

Institutional Source

Beutler Lab

Gene Symbol

4930590J08Rik

Ensembl Gene

ENSMUSG00000034063

Gene Name

RIKEN cDNA 4930590J08 gene

Synonyms

LOC381798

MMRRC Submission

046011-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7968 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91879790-91927706 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91922441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 35 (T35A)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059318] [ENSMUST00000205686]

AlphaFold

no structure available at present

Predicted Effect

silent
Transcript: ENSMUST00000059318

SMART Domains

Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063

Domain	Start	End	E-Value	Type
low complexity region	89	109	N/A	INTRINSIC
Pfam:FAM194	357	561	4.1e-68	PFAM
low complexity region	626	637	N/A	INTRINSIC
transmembrane domain	774	796	N/A	INTRINSIC
low complexity region	891	909	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000205686

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	C	13: 70,886,701 (GRCm39)	S1030A	probably benign	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Aff4	C	T	11: 53,300,175 (GRCm39)	T1026I	probably damaging	Het
Arfgef1	T	C	1: 10,243,145 (GRCm39)	Y1065C	probably damaging	Het
Arhgef3	G	T	14: 27,108,070 (GRCm39)	D192Y	probably damaging	Het
Arhgef3	G	A	14: 27,116,062 (GRCm39)	R268Q	probably damaging	Het
Atp6v0e	T	A	17: 26,913,885 (GRCm39)		probably null	Het
B3galt9	A	G	2: 34,728,257 (GRCm39)	N19D	probably damaging	Het
Cenpc1	A	G	5: 86,181,551 (GRCm39)	Y605H	probably benign	Het
Cftr	T	C	6: 18,226,048 (GRCm39)	V332A	probably benign	Het
Csmd2	A	G	4: 128,091,118 (GRCm39)	H219R		Het
Csnk1g3	C	T	18: 54,028,726 (GRCm39)		probably benign	Het
Cyp4f17	T	C	17: 32,743,116 (GRCm39)	V263A	possibly damaging	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Entrep1	G	T	19: 23,962,091 (GRCm39)	T304K	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Gstm4	A	T	3: 107,951,677 (GRCm39)	M35K	probably damaging	Het
Kcna2	A	G	3: 107,012,460 (GRCm39)	Y347C	possibly damaging	Het
Kcnh7	G	A	2: 62,566,444 (GRCm39)	T829M	probably damaging	Het
Kcnu1	T	C	8: 26,400,898 (GRCm39)	V682A	probably benign	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Kera	A	G	10: 97,444,821 (GRCm39)	E60G	possibly damaging	Het
Letm2	C	T	8: 26,083,766 (GRCm39)	G155D	probably damaging	Het
Lrfn4	G	A	19: 4,663,343 (GRCm39)	A397V	probably benign	Het
Lrp4	A	G	2: 91,324,424 (GRCm39)	Q1253R	possibly damaging	Het
Mob1a	T	A	6: 83,315,287 (GRCm39)	M145K	probably benign	Het
Nab1	A	G	1: 52,529,295 (GRCm39)	C201R	probably damaging	Het
Nlrp9b	A	G	7: 19,762,493 (GRCm39)	E710G	probably benign	Het
Oas2	A	G	5: 120,876,437 (GRCm39)	V502A	probably benign	Het
Or1e26	T	C	11: 73,480,154 (GRCm39)	S137G	probably benign	Het
Or52d3	T	A	7: 104,229,595 (GRCm39)	C247*	probably null	Het
Or52h7	A	T	7: 104,213,857 (GRCm39)	H143L	probably benign	Het
Parg	A	T	14: 31,936,327 (GRCm39)	H494L	possibly damaging	Het
Phf20	T	A	2: 156,135,464 (GRCm39)	D600E	probably benign	Het
Ppef2	G	A	5: 92,397,022 (GRCm39)	R118C	probably damaging	Het
Ptprz1	T	A	6: 22,959,675 (GRCm39)	N57K	probably damaging	Het
Rrbp1	A	T	2: 143,832,081 (GRCm39)	S29T	probably damaging	Het
Sema3g	C	A	14: 30,942,605 (GRCm39)	R69S	probably damaging	Het
Slc12a4	G	A	8: 106,678,237 (GRCm39)	R319W	possibly damaging	Het
Slc4a3	A	G	1: 75,528,007 (GRCm39)	T419A	probably benign	Het
Smc3	T	C	19: 53,611,649 (GRCm39)		probably null	Het
Sntg1	C	T	1: 8,535,760 (GRCm39)	W288*	probably null	Het
Synpo2l	G	T	14: 20,716,870 (GRCm39)		probably null	Het
Tap1	A	G	17: 34,413,886 (GRCm39)	I634V	probably damaging	Het
Tmem25	A	G	9: 44,706,983 (GRCm39)	S278P	probably benign	Het
Togaram2	T	C	17: 72,024,428 (GRCm39)	S871P	probably benign	Het
Trim37	T	C	11: 87,040,179 (GRCm39)	V225A	possibly damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het

Other mutations in 4930590J08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:4930590J08Rik	APN	6	91,896,099 (GRCm39)	missense	possibly damaging	0.74
IGL01478:4930590J08Rik	APN	6	91,911,590 (GRCm39)	missense	probably benign	0.01
IGL01481:4930590J08Rik	APN	6	91,910,079 (GRCm39)	missense	probably damaging	1.00
IGL01485:4930590J08Rik	APN	6	91,927,003 (GRCm39)	missense	probably damaging	0.96
IGL01794:4930590J08Rik	APN	6	91,895,093 (GRCm39)	nonsense	probably null
IGL01795:4930590J08Rik	APN	6	91,895,093 (GRCm39)	nonsense	probably null
IGL02040:4930590J08Rik	APN	6	91,895,091 (GRCm39)	missense	probably benign
IGL02171:4930590J08Rik	APN	6	91,921,237 (GRCm39)	missense	probably benign	0.01
IGL02968:4930590J08Rik	APN	6	91,900,454 (GRCm39)	missense	probably damaging	1.00
IGL03358:4930590J08Rik	APN	6	91,905,716 (GRCm39)	missense	probably damaging	1.00
PIT4519001:4930590J08Rik	UTSW	6	91,894,038 (GRCm39)	missense	probably damaging	1.00
R0531:4930590J08Rik	UTSW	6	91,892,127 (GRCm39)	missense	probably benign
R0569:4930590J08Rik	UTSW	6	91,919,559 (GRCm39)	nonsense	probably null
R1536:4930590J08Rik	UTSW	6	91,894,016 (GRCm39)	missense	probably benign	0.20
R1730:4930590J08Rik	UTSW	6	91,896,259 (GRCm39)	missense	possibly damaging	0.60
R1758:4930590J08Rik	UTSW	6	91,892,203 (GRCm39)	missense	possibly damaging	0.79
R1783:4930590J08Rik	UTSW	6	91,896,259 (GRCm39)	missense	possibly damaging	0.60
R1911:4930590J08Rik	UTSW	6	91,927,050 (GRCm39)	splice site	probably benign
R1930:4930590J08Rik	UTSW	6	91,892,002 (GRCm39)	missense	probably benign	0.01
R1936:4930590J08Rik	UTSW	6	91,894,061 (GRCm39)	missense	possibly damaging	0.90
R2157:4930590J08Rik	UTSW	6	91,919,468 (GRCm39)	missense	possibly damaging	0.48
R2157:4930590J08Rik	UTSW	6	91,894,679 (GRCm39)	splice site	probably null
R4072:4930590J08Rik	UTSW	6	91,922,342 (GRCm39)	splice site	probably null
R4662:4930590J08Rik	UTSW	6	91,891,939 (GRCm39)	missense	probably benign
R4900:4930590J08Rik	UTSW	6	91,895,091 (GRCm39)	missense	probably benign
R4936:4930590J08Rik	UTSW	6	91,921,245 (GRCm39)	missense	probably damaging	1.00
R5394:4930590J08Rik	UTSW	6	91,896,174 (GRCm39)	missense	probably benign	0.00
R5887:4930590J08Rik	UTSW	6	91,892,124 (GRCm39)	nonsense	probably null
R5931:4930590J08Rik	UTSW	6	91,896,096 (GRCm39)	missense	probably damaging	1.00
R6174:4930590J08Rik	UTSW	6	91,919,517 (GRCm39)	missense	probably damaging	0.99
R6179:4930590J08Rik	UTSW	6	91,919,311 (GRCm39)	missense	probably damaging	0.96
R6380:4930590J08Rik	UTSW	6	91,900,118 (GRCm39)	missense	probably damaging	1.00
R6531:4930590J08Rik	UTSW	6	91,926,980 (GRCm39)	missense	possibly damaging	0.88
R7570:4930590J08Rik	UTSW	6	91,911,591 (GRCm39)	missense	probably benign	0.03
R7860:4930590J08Rik	UTSW	6	91,905,707 (GRCm39)	missense	probably damaging	1.00
R7936:4930590J08Rik	UTSW	6	91,900,445 (GRCm39)	nonsense	probably null
R7958:4930590J08Rik	UTSW	6	91,911,464 (GRCm39)	missense	probably benign	0.02
R8111:4930590J08Rik	UTSW	6	91,894,691 (GRCm39)	missense	probably benign
R8953:4930590J08Rik	UTSW	6	91,892,002 (GRCm39)	missense	probably benign	0.01
R9084:4930590J08Rik	UTSW	6	91,892,016 (GRCm39)	missense	probably damaging	0.97
R9154:4930590J08Rik	UTSW	6	91,926,926 (GRCm39)	missense	probably benign	0.09
R9319:4930590J08Rik	UTSW	6	91,922,446 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAACCATCTCTGAGGAAGCAG -3'
(R):5'- AAACCCCTCTGTTTGCTCAG -3'

Sequencing Primer
(F):5'- GTGTCCAGTCCAACTAAGACTTGG -3'
(R):5'- CTCTGTTTGCTCAGGGGAC -3'

Posted On

2020-09-15