Mutagenetix > Incidental Mutation

Incidental Mutation 'R7919:9430097D07Rik'

648214

Institutional Source

Beutler Lab

Gene Symbol

9430097D07Rik

Ensembl Gene

ENSMUSG00000075405

Gene Name

RIKEN cDNA 9430097D07 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R7919 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32464196-32465696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32464461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 113 (T113A)

Ref Sequence

ENSEMBL: ENSMUSP00000097765 (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: T113A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	G	3: 137,885,311 (GRCm39)	K95T	probably damaging	Het
Abcc2	T	C	19: 43,805,248 (GRCm39)	Y701H	probably damaging	Het
Adcy2	T	A	13: 69,036,091 (GRCm39)	H190L	probably benign	Het
Arhgef15	T	C	11: 68,838,431 (GRCm39)	T623A	probably benign	Het
Armc3	A	G	2: 19,290,906 (GRCm39)	T462A	probably benign	Het
Calhm2	C	T	19: 47,121,447 (GRCm39)	V241M	possibly damaging	Het
Cdc25c	T	C	18: 34,868,429 (GRCm39)	I314V	probably damaging	Het
Cntrl	G	A	2: 35,017,413 (GRCm39)	D407N	probably benign	Het
Dnah5	A	G	15: 28,350,742 (GRCm39)	E2588G	probably damaging	Het
Dnm1	T	A	2: 32,229,990 (GRCm39)	N178Y	probably damaging	Het
Eaf2	T	A	16: 36,630,914 (GRCm39)	E86D	probably damaging	Het
Elf1	C	A	14: 79,798,339 (GRCm39)	D75E	probably benign	Het
Fem1c	T	C	18: 46,657,370 (GRCm39)	T115A	probably damaging	Het
Garnl3	A	G	2: 32,936,611 (GRCm39)	V186A	probably benign	Het
Gatb	T	A	3: 85,511,828 (GRCm39)	S194R	probably damaging	Het
Gm10775	T	A	13: 65,407,913 (GRCm39)	N71K	unknown	Het
Gm19965	T	A	1: 116,749,850 (GRCm39)	C510*	probably null	Het
Hydin	A	G	8: 110,993,971 (GRCm39)	T2A	unknown	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Jag1	G	A	2: 136,930,366 (GRCm39)	T726M	probably damaging	Het
Kank1	A	G	19: 25,408,439 (GRCm39)	D1306G	probably damaging	Het
Krt26	T	A	11: 99,224,420 (GRCm39)	E366V	probably damaging	Het
Ksr2	A	G	5: 117,899,418 (GRCm39)	E872G	possibly damaging	Het
Med6	G	A	12: 81,620,621 (GRCm39)	R242*	probably null	Het
Meis2	A	G	2: 115,697,788 (GRCm39)	V370A	probably benign	Het
Mta2	C	T	19: 8,926,498 (GRCm39)	R480*	probably null	Het
Mup3	A	T	4: 62,002,829 (GRCm39)	N177K	probably damaging	Het
Myo15a	T	A	11: 60,417,356 (GRCm39)	V3435E	probably damaging	Het
Ncapg	A	G	5: 45,853,390 (GRCm39)	T880A	probably benign	Het
Obox1	A	T	7: 15,290,256 (GRCm39)	K200*	probably null	Het
Or8j3	A	T	2: 86,028,609 (GRCm39)	C162*	probably null	Het
Ovgp1	T	A	3: 105,888,601 (GRCm39)	V319D	probably damaging	Het
Plxdc2	A	T	2: 16,553,036 (GRCm39)	I145F	probably damaging	Het
Prr30	T	C	14: 101,436,547 (GRCm39)	N5S	possibly damaging	Het
Ptcd3	T	C	6: 71,880,438 (GRCm39)	Y95C	probably damaging	Het
Rsl1d1	A	G	16: 11,020,297 (GRCm39)	S44P	probably benign	Het
Sh3gl2	A	G	4: 85,273,595 (GRCm39)	E49G	probably benign	Het
Shroom1	A	G	11: 53,354,220 (GRCm39)	T47A	probably benign	Het
Slc20a1	G	A	2: 129,049,757 (GRCm39)	D340N	probably benign	Het
Stx1b	A	G	7: 127,406,507 (GRCm39)	S281P	probably benign	Het
Tg	A	T	15: 66,555,923 (GRCm39)	I872F	possibly damaging	Het
Ubqln3	C	T	7: 103,790,399 (GRCm39)	A564T	probably benign	Het
Vsnl1	T	C	12: 11,382,087 (GRCm39)	E98G	possibly damaging	Het
Vwf	T	C	6: 125,624,822 (GRCm39)	L1857P		Het
Wars1	C	T	12: 108,847,030 (GRCm39)	E125K	probably benign	Het
Wnt16	G	A	6: 22,291,049 (GRCm39)	S159N	probably benign	Het
Zcchc14	A	G	8: 122,330,912 (GRCm39)	F817S	probably damaging	Het
Zup1	A	G	10: 33,825,108 (GRCm39)	S125P	possibly damaging	Het

Other mutations in 9430097D07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02214:9430097D07Rik	APN	2	32,464,736 (GRCm39)	unclassified	probably benign
R0356:9430097D07Rik	UTSW	2	32,464,418 (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
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'- GGTTCCTTCATCCTGATGGC -3'
(R):5'- CACAAACTTGGGAACTGTGTGG -3'

Sequencing Primer
(F):5'- AATCCCGGCATTCAGGATTTG -3'
(R):5'- CAAACTTGGGAACTGTGTGGATTGG -3'

Posted On

2020-09-15