Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01135:5730507C01Rik'

52491

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

5730507C01Rik

Ensembl Gene

ENSMUSG00000073197

Gene Name

RIKEN cDNA 5730507C01 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

IGL01135

Quality Score

Status

Chromosome

Chromosomal Location

18564511-18585255 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 18583375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 145 (R145H)

Ref Sequence

ENSEMBL: ENSMUSP00000137525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063216] [ENSMUST00000177778]

AlphaFold

J3QPX0

Predicted Effect

probably benign
Transcript: ENSMUST00000063216
AA Change: R121H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099112
Gene: ENSMUSG00000073197
AA Change: R121H

Domain	Start	End	E-Value	Type
low complexity region	20	31	N/A	INTRINSIC
KRAB	45	107	1.74e-14	SMART
ZnF_C2H2	144	166	5.54e1	SMART
ZnF_C2H2	172	194	8.75e0	SMART
ZnF_C2H2	200	222	2.43e-4	SMART
ZnF_C2H2	228	250	2.02e-1	SMART
ZnF_C2H2	256	278	1.4e-4	SMART
ZnF_C2H2	284	306	1.84e-4	SMART
ZnF_C2H2	312	334	6.88e-4	SMART
ZnF_C2H2	340	362	9.58e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177778
AA Change: R145H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137525
Gene: ENSMUSG00000073197
AA Change: R145H

Domain	Start	End	E-Value	Type
low complexity region	20	31	N/A	INTRINSIC
KRAB	69	131	1.74e-14	SMART
ZnF_C2H2	168	190	5.54e1	SMART
ZnF_C2H2	196	218	8.75e0	SMART
ZnF_C2H2	224	246	2.43e-4	SMART
ZnF_C2H2	252	274	2.02e-1	SMART
ZnF_C2H2	280	302	1.4e-4	SMART
ZnF_C2H2	308	330	1.84e-4	SMART
ZnF_C2H2	336	358	6.88e-4	SMART
ZnF_C2H2	364	386	9.58e-3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Acox3	T	A	5: 35,746,096 (GRCm39)	V93E	probably benign	Het
Ankar	T	C	1: 72,704,378 (GRCm39)	N848S	probably benign	Het
Blzf1	A	G	1: 164,131,499 (GRCm39)		probably benign	Het
Cc2d1a	G	T	8: 84,870,033 (GRCm39)	H161N	probably benign	Het
Ceacam23	A	T	7: 17,636,396 (GRCm39)		noncoding transcript	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Ckmt1	A	C	2: 121,191,631 (GRCm39)	D267A	probably damaging	Het
Dtl	G	T	1: 191,280,442 (GRCm39)	T364K	probably damaging	Het
Fat1	T	A	8: 45,477,877 (GRCm39)	F2308I	probably damaging	Het
Fbxo41	A	T	6: 85,454,890 (GRCm39)	S673T	probably benign	Het
Flnb	G	A	14: 7,909,736 (GRCm38)	V1397I	probably benign	Het
Gdi2	A	G	13: 3,598,855 (GRCm39)		probably benign	Het
Grik3	C	T	4: 125,526,208 (GRCm39)	T147I	probably benign	Het
Htr1a	T	C	13: 105,581,792 (GRCm39)	V344A	possibly damaging	Het
Isg20l2	A	T	3: 87,839,068 (GRCm39)	D93V	probably damaging	Het
Kcnt2	T	C	1: 140,282,293 (GRCm39)		probably null	Het
Mfsd4b3-ps	A	G	10: 39,824,068 (GRCm39)	M64T	probably benign	Het
Nox3	T	A	17: 3,746,527 (GRCm39)		probably benign	Het
Or2ag12	C	T	7: 106,277,400 (GRCm39)	A98T	probably benign	Het
Pikfyve	T	A	1: 65,290,794 (GRCm39)	N1204K	probably damaging	Het
Pou4f3	C	T	18: 42,529,031 (GRCm39)	Q325*	probably null	Het
Rap1a	T	A	3: 105,639,351 (GRCm39)	T103S	probably benign	Het
Rfc4	G	A	16: 22,934,526 (GRCm39)	R165C	probably damaging	Het
Smtnl1	A	G	2: 84,649,231 (GRCm39)	S8P	probably benign	Het
Syt17	C	T	7: 117,981,270 (GRCm39)	G351S	possibly damaging	Het
Tcf20	T	A	15: 82,738,101 (GRCm39)	M1117L	probably benign	Het
Tent5a	A	G	9: 85,208,652 (GRCm39)	V57A	probably damaging	Het
Tgfbr3	A	T	5: 107,362,894 (GRCm39)	H39Q	probably damaging	Het
Trdmt1	T	C	2: 13,526,071 (GRCm39)		probably null	Het
Twf2	A	G	9: 106,090,027 (GRCm39)	I127V	probably benign	Het
Unc13c	A	G	9: 73,392,175 (GRCm39)	V2059A	probably damaging	Het

Other mutations in 5730507C01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0419:5730507C01Rik	UTSW	12	18,583,424 (GRCm39)	missense	possibly damaging	0.53
R1662:5730507C01Rik	UTSW	12	18,581,967 (GRCm39)	missense	possibly damaging	0.53
R1851:5730507C01Rik	UTSW	12	18,583,687 (GRCm39)	missense	possibly damaging	0.95
R1902:5730507C01Rik	UTSW	12	18,584,004 (GRCm39)	nonsense	probably null
R2876:5730507C01Rik	UTSW	12	18,583,644 (GRCm39)	missense	possibly damaging	0.60
R3861:5730507C01Rik	UTSW	12	18,583,411 (GRCm39)	missense	probably benign	0.33
R3934:5730507C01Rik	UTSW	12	18,584,082 (GRCm39)	missense	possibly damaging	0.95
R5774:5730507C01Rik	UTSW	12	18,581,668 (GRCm39)	missense	probably damaging	1.00
R6259:5730507C01Rik	UTSW	12	18,584,120 (GRCm39)	missense	probably benign	0.44
R7647:5730507C01Rik	UTSW	12	18,564,803 (GRCm39)	missense	possibly damaging	0.86
R8053:5730507C01Rik	UTSW	12	18,583,728 (GRCm39)	nonsense	probably null

Posted On

2013-06-21