Mutagenetix > Incidental Mutation

Incidental Mutation 'R0356:9430097D07Rik'

29811

Institutional Source

Beutler Lab

Gene Symbol

9430097D07Rik

Ensembl Gene

ENSMUSG00000075405

Gene Name

RIKEN cDNA 9430097D07 gene

Synonyms

MMRRC Submission

038562-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R0356 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32464196-32465696 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 32464418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028151] [ENSMUST00000048375] [ENSMUST00000055304] [ENSMUST00000100188] [ENSMUST00000100190] [ENSMUST00000140592]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028151

SMART Domains

Protein: ENSMUSP00000028151
Gene: ENSMUSG00000026810

Domain	Start	End	E-Value	Type
Pfam:DPM2	5	80	4.2e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048375

SMART Domains

Protein: ENSMUSP00000044731
Gene: ENSMUSG00000039157

Domain	Start	End	E-Value	Type
Pfam:NT-C2	6	152	4.8e-32	PFAM
low complexity region	177	194	N/A	INTRINSIC
low complexity region	262	273	N/A	INTRINSIC
low complexity region	283	309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055304

SMART Domains

Protein: ENSMUSP00000051282
Gene: ENSMUSG00000046854

Domain	Start	End	E-Value	Type
Pfam:PIP5K	127	393	4.2e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100188

SMART Domains

Protein: ENSMUSP00000097763
Gene: ENSMUSG00000046854

Domain	Start	End	E-Value	Type
Pfam:PIP5K	165	358	4.3e-49	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000100190
AA Change: H127R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136816

Predicted Effect

probably benign
Transcript: ENSMUST00000140592

SMART Domains

Protein: ENSMUSP00000124665
Gene: ENSMUSG00000026810

Domain	Start	End	E-Value	Type
Pfam:DPM2	5	68	3e-30	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.6%
10x: 94.4%
20x: 86.1%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	C	T	10: 14,302,642 (GRCm39)	V924M	possibly damaging	Het
Anxa9	A	G	3: 95,215,387 (GRCm39)		probably benign	Het
Ap3d1	G	T	10: 80,563,812 (GRCm39)	S122R	probably damaging	Het
Arhgap5	T	C	12: 52,563,091 (GRCm39)	S21P	probably damaging	Het
Atp13a5	A	G	16: 29,167,573 (GRCm39)		probably benign	Het
AU040320	A	T	4: 126,731,155 (GRCm39)	D618V	probably damaging	Het
Cbfa2t2	T	A	2: 154,373,269 (GRCm39)	D475E	probably benign	Het
Ccdc202	T	A	14: 96,119,801 (GRCm39)	V186E	possibly damaging	Het
Ccdc62	G	A	5: 124,092,811 (GRCm39)	V599I	probably benign	Het
Cenpj	T	C	14: 56,786,953 (GRCm39)	E917G	probably damaging	Het
Cog5	T	C	12: 31,887,180 (GRCm39)		probably benign	Het
Col9a1	T	A	1: 24,224,328 (GRCm39)	L170*	probably null	Het
Daxx	T	A	17: 34,132,867 (GRCm39)	V627D	probably benign	Het
Dnah9	A	G	11: 66,021,388 (GRCm39)		probably null	Het
Drg2	T	A	11: 60,352,407 (GRCm39)	V203E	probably damaging	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Fer1l4	T	C	2: 155,865,930 (GRCm39)	Y1586C	probably damaging	Het
Gp6	A	T	7: 4,373,141 (GRCm39)		probably benign	Het
Hhip	T	C	8: 80,724,121 (GRCm39)	I374V	probably benign	Het
Hspa12b	G	T	2: 130,986,719 (GRCm39)	V547L	possibly damaging	Het
Iars1	G	A	13: 49,856,709 (GRCm39)	V321I	probably benign	Het
Itga8	T	C	2: 12,187,532 (GRCm39)	M716V	possibly damaging	Het
Lcn5	T	C	2: 25,550,705 (GRCm39)	I131T	probably damaging	Het
Mki67	G	A	7: 135,306,135 (GRCm39)	T614M	probably benign	Het
Mmp3	G	A	9: 7,451,768 (GRCm39)	E369K	probably benign	Het
Myt1l	A	G	12: 29,861,500 (GRCm39)	D94G	unknown	Het
Neil1	T	C	9: 57,054,180 (GRCm39)	I47V	possibly damaging	Het
Nr5a2	T	C	1: 136,773,430 (GRCm39)	N424S	possibly damaging	Het
Or1e21	A	T	11: 73,344,906 (GRCm39)	I44N	possibly damaging	Het
Or51f5	A	T	7: 102,424,286 (GRCm39)	D185V	probably damaging	Het
Or5b120	A	G	19: 13,480,441 (GRCm39)	T245A	possibly damaging	Het
Or7e166	G	T	9: 19,624,743 (GRCm39)	G207C	probably damaging	Het
Pakap	C	A	4: 57,855,628 (GRCm39)	T360K	possibly damaging	Het
Pde8b	G	T	13: 95,182,962 (GRCm39)	N265K	probably damaging	Het
Prpf40b	T	C	15: 99,203,080 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,375,107 (GRCm39)	D718G	possibly damaging	Het
Sirpb1c	T	C	3: 15,887,309 (GRCm39)	N175D	possibly damaging	Het
Srgap1	A	T	10: 121,691,441 (GRCm39)		probably null	Het
Tgm5	T	A	2: 120,884,055 (GRCm39)	T313S	probably damaging	Het
Tigar	A	G	6: 127,068,145 (GRCm39)		probably null	Het
Tmprss11b	A	G	5: 86,808,326 (GRCm39)	*417Q	probably null	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Ttll11	T	C	2: 35,792,688 (GRCm39)	D385G	possibly damaging	Het
Zfp426	T	C	9: 20,382,541 (GRCm39)	T135A	probably benign	Het

Other mutations in 9430097D07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02214:9430097D07Rik	APN	2	32,464,736 (GRCm39)	unclassified	probably benign
R1776:9430097D07Rik	UTSW	2	32,464,767 (GRCm39)	unclassified	probably benign
R4525:9430097D07Rik	UTSW	2	32,464,388 (GRCm39)	unclassified	probably benign
R4886:9430097D07Rik	UTSW	2	32,464,630 (GRCm39)	unclassified	probably benign
R5010:9430097D07Rik	UTSW	2	32,464,440 (GRCm39)	unclassified	probably benign
R5613:9430097D07Rik	UTSW	2	32,465,346 (GRCm39)	unclassified	probably benign
R7059:9430097D07Rik	UTSW	2	32,464,509 (GRCm39)	unclassified	probably benign
R7919:9430097D07Rik	UTSW	2	32,464,461 (GRCm39)	missense	unknown
R7977:9430097D07Rik	UTSW	2	32,464,317 (GRCm39)	missense	unknown
R7987:9430097D07Rik	UTSW	2	32,464,317 (GRCm39)	missense	unknown
R9287:9430097D07Rik	UTSW	2	32,465,178 (GRCm39)	unclassified	probably benign
R9718:9430097D07Rik	UTSW	2	32,465,247 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCATCCACACAGCCTGAAAG -3'
(R):5'- ATGATAGTCCCTAGCACGCAGAGC -3'

Sequencing Primer
(F):5'- caggatttggaggcaggg -3'
(R):5'- TAGCACGCAGAGCCTTGG -3'

Posted On

2013-04-24