Mutagenetix > Incidental Mutation

Incidental Mutation 'R1330:4933421I07Rik'

156145

Institutional Source

Beutler Lab

Gene Symbol

4933421I07Rik

Ensembl Gene

ENSMUSG00000030463

Gene Name

RIKEN cDNA 4933421I07 gene

Synonyms

MMRRC Submission

039395-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1330 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42094879-42097526 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42097018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 98 (T98A)

Ref Sequence

ENSEMBL: ENSMUSP00000032648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032648]

AlphaFold

Q9D420

Predicted Effect

probably benign
Transcript: ENSMUST00000032648
AA Change: T98A

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000032648
Gene: ENSMUSG00000030463
AA Change: T98A

Domain	Start	End	E-Value	Type
Pfam:RasGEF_N	68	160	2.6e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206593

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.2%
10x: 92.6%
20x: 82.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	A	17: 56,085,814 (GRCm39)	C38S	probably benign	Het
Adgrf3	T	A	5: 30,400,093 (GRCm39)	T83S	probably benign	Het
Arhgef40	T	C	14: 52,227,613 (GRCm39)	V453A	probably benign	Het
Art4	A	T	6: 136,831,339 (GRCm39)		probably benign	Het
Cdhr2	A	G	13: 54,882,081 (GRCm39)	K1177R	possibly damaging	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Ddx6	T	C	9: 44,539,070 (GRCm39)		probably benign	Het
Dolk	A	T	2: 30,175,112 (GRCm39)	V311E	probably damaging	Het
Dstyk	A	G	1: 132,377,618 (GRCm39)	N408S	probably benign	Het
Efcab3	A	G	11: 104,637,116 (GRCm39)	Y1049C	possibly damaging	Het
Eva1c	A	C	16: 90,701,284 (GRCm39)	E318D	probably damaging	Het
Frem3	T	A	8: 81,395,468 (GRCm39)	W1832R	probably damaging	Het
Jup	A	T	11: 100,263,502 (GRCm39)	I689N	probably benign	Het
Kcnh7	A	G	2: 62,607,755 (GRCm39)	S609P	possibly damaging	Het
Lrch4	G	A	5: 137,636,051 (GRCm39)	R368Q	probably damaging	Het
Ncbp1	G	A	4: 46,167,354 (GRCm39)	V586M	probably benign	Het
Ncstn	C	T	1: 171,899,092 (GRCm39)	M346I	probably damaging	Het
Osbpl1a	A	G	18: 13,015,251 (GRCm39)		probably null	Het
Pcdh12	A	G	18: 38,414,914 (GRCm39)	V737A	probably benign	Het
Pds5b	T	A	5: 150,684,542 (GRCm39)	M600K	probably damaging	Het
Rbm25	A	G	12: 83,724,666 (GRCm39)	D805G	probably damaging	Het
Rfx7	C	T	9: 72,524,547 (GRCm39)	T579I	probably benign	Het
Rhod	C	A	19: 4,476,182 (GRCm39)	A190S	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Slc22a2	A	C	17: 12,805,699 (GRCm39)	D150A	possibly damaging	Het
Spink11	A	G	18: 44,329,195 (GRCm39)	I17T	unknown	Het
Tas1r2	A	G	4: 139,396,640 (GRCm39)	I660V	probably benign	Het
Utp20	G	A	10: 88,637,051 (GRCm39)	P720L	probably damaging	Het
Vmn1r1	A	T	1: 181,985,572 (GRCm39)	L31H	probably damaging	Het
Vmn2r23	T	C	6: 123,718,963 (GRCm39)	L772P	probably damaging	Het
Wap	T	C	11: 6,586,818 (GRCm39)	T94A	unknown	Het
Wdr47	T	C	3: 108,537,069 (GRCm39)	S586P	probably benign	Het
Zfp318	A	G	17: 46,724,684 (GRCm39)	Y2229C	possibly damaging	Het
Zfp429	T	C	13: 67,544,262 (GRCm39)		probably null	Het

Other mutations in 4933421I07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:4933421I07Rik	APN	7	42,097,123 (GRCm39)	missense	probably benign
IGL01653:4933421I07Rik	APN	7	42,096,398 (GRCm39)	missense	probably damaging	1.00
IGL01918:4933421I07Rik	APN	7	42,097,098 (GRCm39)	missense	probably benign	0.39
IGL02514:4933421I07Rik	APN	7	42,096,981 (GRCm39)	missense	probably damaging	0.99
R2219:4933421I07Rik	UTSW	7	42,095,769 (GRCm39)	missense	probably damaging	1.00
R4779:4933421I07Rik	UTSW	7	42,097,455 (GRCm39)	missense	possibly damaging	0.92
R4952:4933421I07Rik	UTSW	7	42,097,083 (GRCm39)	missense	possibly damaging	0.59
R6026:4933421I07Rik	UTSW	7	42,095,708 (GRCm39)	missense	probably benign	0.06
R6141:4933421I07Rik	UTSW	7	42,097,483 (GRCm39)	missense	probably damaging	1.00
R6332:4933421I07Rik	UTSW	7	42,095,667 (GRCm39)	missense	possibly damaging	0.60
R6892:4933421I07Rik	UTSW	7	42,095,831 (GRCm39)	missense	probably benign	0.35
R7284:4933421I07Rik	UTSW	7	42,097,404 (GRCm39)	missense	probably damaging	1.00
R8684:4933421I07Rik	UTSW	7	42,097,413 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGTGTCCATGTCACTTTGCAGGTTC -3'
(R):5'- CAAGGTAACACAGGCCAGCCTTAG -3'

Sequencing Primer
(F):5'- ACTTTGCAGGTTCAGACCCAG -3'
(R):5'- TGTTCCCATGAGACACTGAG -3'

Posted On

2014-02-11