Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01294:9130023H24Rik'

73028

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

9130023H24Rik

Ensembl Gene

ENSMUSG00000062944

Gene Name

RIKEN cDNA 9130023H24 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL01294

Quality Score

Status

Chromosome

Chromosomal Location

127833630-127837203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127836291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 101 (S101T)

Ref Sequence

ENSEMBL: ENSMUSP00000077867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044660] [ENSMUST00000078816]

AlphaFold

Q8BG98

Predicted Effect

probably benign
Transcript: ENSMUST00000044660

SMART Domains

Protein: ENSMUSP00000040568
Gene: ENSMUSG00000042178

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	62	104	N/A	INTRINSIC
ARM	137	179	2.89e-1	SMART
ARM	180	221	3.32e-1	SMART
ARM	222	263	2.93e-2	SMART
Blast:ARM	265	306	1e-8	BLAST
low complexity region	313	338	N/A	INTRINSIC
ARM	353	399	4.88e0	SMART
low complexity region	418	431	N/A	INTRINSIC
low complexity region	670	690	N/A	INTRINSIC
Pfam:BTB	742	854	9.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078816
AA Change: S101T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000077867
Gene: ENSMUSG00000062944
AA Change: S101T

Domain	Start	End	E-Value	Type
ZnF_C2H2	88	110	1.89e-1	SMART
ZnF_C2H2	116	138	7.49e-5	SMART
ZnF_C2H2	144	166	1.12e-3	SMART
ZnF_C2H2	172	194	2.4e-3	SMART
ZnF_C2H2	200	222	1.95e-3	SMART
ZnF_C2H2	228	250	3.89e-3	SMART
ZnF_C2H2	256	278	1.1e-2	SMART
ZnF_C2H2	284	306	1.33e-1	SMART
ZnF_C2H2	312	334	2.53e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206509

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Arglu1	G	T	8: 8,733,739 (GRCm39)		probably benign	Het
Cacna2d2	T	G	9: 107,391,280 (GRCm39)	Y436D	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cpne8	G	A	15: 90,385,648 (GRCm39)	S460L	probably damaging	Het
Crat	G	A	2: 30,295,199 (GRCm39)	A436V	probably damaging	Het
Dmd	T	C	X: 83,475,604 (GRCm39)		probably null	Het
Emilin2	G	T	17: 71,581,589 (GRCm39)	A379E	probably benign	Het
Ercc2	A	G	7: 19,124,342 (GRCm39)	I445V	probably benign	Het
Evc2	T	C	5: 37,504,854 (GRCm39)		probably null	Het
Filip1l	A	T	16: 57,392,711 (GRCm39)	K1100*	probably null	Het
Gm4353	T	A	7: 115,683,077 (GRCm39)	D168V	possibly damaging	Het
Hsf4	G	T	8: 106,002,289 (GRCm39)	*417L	probably null	Het
Kmt2a	A	G	9: 44,731,594 (GRCm39)		probably benign	Het
Macroh2a1	A	T	13: 56,222,113 (GRCm39)	V346E	probably damaging	Het
Mpzl1	A	G	1: 165,421,177 (GRCm39)	S261P	probably damaging	Het
Mre11a	T	C	9: 14,742,211 (GRCm39)	S621P	probably damaging	Het
Muc6	T	C	7: 141,232,926 (GRCm39)	Y934C	probably damaging	Het
Naip5	A	G	13: 100,353,588 (GRCm39)	S1224P	probably damaging	Het
Nwd1	A	T	8: 73,438,373 (GRCm39)	N1474Y	probably damaging	Het
Or2ag20	T	C	7: 106,464,970 (GRCm39)	L261S	probably damaging	Het
Ptbp2	A	G	3: 119,541,461 (GRCm39)	V192A	probably damaging	Het
Rfx2	T	C	17: 57,090,657 (GRCm39)	Y421C	probably damaging	Het
Sfmbt2	T	A	2: 10,595,232 (GRCm39)		probably benign	Het
Slc4a10	A	C	2: 62,083,653 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,987,506 (GRCm39)	M734V	probably benign	Het
Tap1	T	C	17: 34,413,019 (GRCm39)		probably null	Het
Tep1	A	G	14: 51,067,114 (GRCm39)		probably benign	Het
Uba6	T	A	5: 86,297,907 (GRCm39)	I256L	possibly damaging	Het
Wnt3	A	T	11: 103,699,140 (GRCm39)	H82L	possibly damaging	Het

Other mutations in 9130023H24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01865:9130023H24Rik	APN	7	127,836,107 (GRCm39)	missense	probably damaging	1.00
R0319:9130023H24Rik	UTSW	7	127,836,362 (GRCm39)	missense	probably benign
R1376:9130023H24Rik	UTSW	7	127,836,182 (GRCm39)	missense	probably benign	0.17
R1376:9130023H24Rik	UTSW	7	127,836,182 (GRCm39)	missense	probably benign	0.17
R2373:9130023H24Rik	UTSW	7	127,836,487 (GRCm39)	missense	probably benign	0.13
R4751:9130023H24Rik	UTSW	7	127,836,258 (GRCm39)	missense	probably benign	0.00
R5543:9130023H24Rik	UTSW	7	127,836,353 (GRCm39)	missense	probably benign
R5577:9130023H24Rik	UTSW	7	127,835,826 (GRCm39)	missense	probably damaging	1.00
R5726:9130023H24Rik	UTSW	7	127,835,832 (GRCm39)	missense	probably damaging	1.00
R5906:9130023H24Rik	UTSW	7	127,835,664 (GRCm39)	missense	probably benign	0.01
R6800:9130023H24Rik	UTSW	7	127,836,742 (GRCm39)	start gained	probably benign
R7040:9130023H24Rik	UTSW	7	127,835,897 (GRCm39)	missense	possibly damaging	0.64
R7529:9130023H24Rik	UTSW	7	127,836,336 (GRCm39)	nonsense	probably null
R7672:9130023H24Rik	UTSW	7	127,836,191 (GRCm39)	missense	probably damaging	1.00
R8863:9130023H24Rik	UTSW	7	127,836,123 (GRCm39)	missense	possibly damaging	0.50

Posted On

2013-10-07