Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01325:4930486L24Rik'

74222

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930486L24Rik

Ensembl Gene

ENSMUSG00000050345

Gene Name

RIKEN cDNA 4930486L24 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL01325

Quality Score

Status

Chromosome

Chromosomal Location

60842612-60864475 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60853533 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 127 (T127A)

Ref Sequence

ENSEMBL: ENSMUSP00000089157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091569] [ENSMUST00000225690]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000091569
AA Change: T127A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000089157
Gene: ENSMUSG00000050345
AA Change: T127A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Inhibitor_I29	29	88	1e-19	SMART
Pept_C1	114	332	7.93e-112	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000225382

Predicted Effect

probably benign
Transcript: ENSMUST00000225690

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrv1	T	A	9: 36,698,514	M227K	probably benign	Het
Adam22	T	C	5: 8,127,333	N592S	probably benign	Het
Adamts15	T	A	9: 30,921,688	I184F	possibly damaging	Het
Adcy1	T	C	11: 7,064,102	V168A	possibly damaging	Het
Arl6ip5	T	C	6: 97,232,540	F179L	probably benign	Het
Asxl2	G	T	12: 3,427,172	R6L	probably damaging	Het
Btaf1	T	A	19: 37,004,649		probably benign	Het
Ccdc136	T	C	6: 29,412,950	F445L	probably benign	Het
Cpne3	T	C	4: 19,535,229	S268G	probably benign	Het
Crtc3	C	T	7: 80,677,368	R70Q	probably damaging	Het
Fam169a	C	A	13: 97,122,699	A421E	probably benign	Het
Fhod1	A	T	8: 105,331,649	M825K	probably benign	Het
Gjb2	T	C	14: 57,100,221	T177A	probably benign	Het
Gm6576	A	G	15: 27,025,884		noncoding transcript	Het
Herpud2	A	G	9: 25,113,911	V175A	probably benign	Het
Hmgxb3	T	C	18: 61,134,006	D1052G	probably damaging	Het
Itpr1	T	A	6: 108,381,208	F578L	probably benign	Het
Kdm7a	T	G	6: 39,158,309		probably benign	Het
Krt76	A	T	15: 101,884,888	S572T	unknown	Het
Lrrcc1	T	C	3: 14,536,541		probably null	Het
March9	A	C	10: 127,057,590	V183G	probably damaging	Het
Mkl2	T	C	16: 13,401,224	V578A	probably damaging	Het
Ndufaf6	A	T	4: 11,070,251	D123E	probably benign	Het
Nhlh2	T	G	3: 102,013,026	Y125D	probably damaging	Het
Nol4l	A	G	2: 153,436,351		probably benign	Het
Npas1	C	T	7: 16,463,322	G206D	probably benign	Het
Olfr651	T	C	7: 104,553,689	F257L	probably damaging	Het
Olfr994	C	A	2: 85,430,295	C178F	possibly damaging	Het
Pcdhb4	T	A	18: 37,309,623	V662E	probably damaging	Het
Plxna3	G	A	X: 74,335,794	G758S	probably damaging	Het
Prdm15	T	A	16: 97,806,517	N709Y	probably damaging	Het
Pygo2	C	T	3: 89,432,446		probably benign	Het
Ranbp2	T	A	10: 58,476,298	S947T	probably damaging	Het
Rasgrp1	T	A	2: 117,298,529	H203L	probably damaging	Het
Rbbp6	G	A	7: 122,988,618	G270R	probably damaging	Het
Rcl1	A	G	19: 29,121,262		probably null	Het
Rpl23a-ps1	T	C	1: 45,981,633		noncoding transcript	Het
Serpinb7	T	G	1: 107,435,380	H91Q	probably damaging	Het
Shd	C	T	17: 55,972,839	P111S	possibly damaging	Het
Slc35e1	G	T	8: 72,483,758		probably benign	Het
Srgap3	C	T	6: 112,775,686	R279H	probably damaging	Het
Sstr4	G	A	2: 148,395,552	E28K	probably benign	Het
Stip1	T	C	19: 7,021,096		probably benign	Het
Syne2	A	G	12: 75,926,514	E1097G	probably benign	Het
Tbcd	T	A	11: 121,540,993	V489E	probably damaging	Het
Tnks2	T	A	19: 36,871,633	S516R	probably benign	Het
Trmt44	T	A	5: 35,568,803	R343S	possibly damaging	Het
Trps1	A	G	15: 50,846,814	S47P	probably benign	Het
Ubr3	A	C	2: 69,917,097	K235Q	possibly damaging	Het
Uckl1	G	A	2: 181,574,961	Q48*	probably null	Het
Vat1	T	C	11: 101,465,715	D140G	probably benign	Het
Vmn2r80	A	G	10: 79,194,247	T636A	possibly damaging	Het
Zfp423	A	T	8: 87,781,611		probably null	Het
Zfp667	C	A	7: 6,290,546	T15N	probably damaging	Het

Other mutations in 4930486L24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:4930486L24Rik	APN	13	60854859	missense	probably benign	0.00
IGL02290:4930486L24Rik	APN	13	60853530	missense	probably damaging	1.00
IGL02861:4930486L24Rik	APN	13	60853332	splice site	probably benign
PIT4514001:4930486L24Rik	UTSW	13	60853514	critical splice donor site	probably null
R0110:4930486L24Rik	UTSW	13	60853506	splice site	probably benign
R1396:4930486L24Rik	UTSW	13	60853243	missense	probably benign	0.00
R1471:4930486L24Rik	UTSW	13	60853522	missense	probably damaging	1.00
R1688:4930486L24Rik	UTSW	13	60854881	missense	probably benign	0.00
R1697:4930486L24Rik	UTSW	13	60845114	missense	probably damaging	1.00
R3838:4930486L24Rik	UTSW	13	60845227	missense	probably damaging	1.00
R4714:4930486L24Rik	UTSW	13	60844318	missense	probably damaging	1.00
R4976:4930486L24Rik	UTSW	13	60853573	nonsense	probably null
R5072:4930486L24Rik	UTSW	13	60853600	missense	probably benign	0.00
R5107:4930486L24Rik	UTSW	13	60853658	missense	possibly damaging	0.62
R5699:4930486L24Rik	UTSW	13	60853596	missense	possibly damaging	0.92
R6092:4930486L24Rik	UTSW	13	60853647	missense	probably benign	0.01
R6787:4930486L24Rik	UTSW	13	60853108	missense	probably benign
R6800:4930486L24Rik	UTSW	13	60845134	missense	probably damaging	1.00
R7349:4930486L24Rik	UTSW	13	60842903	missense	possibly damaging	0.52
R7390:4930486L24Rik	UTSW	13	60844338	missense	probably benign	0.00
R7580:4930486L24Rik	UTSW	13	60845226	missense	probably damaging	0.97
R7589:4930486L24Rik	UTSW	13	60842933	missense	probably damaging	1.00
R9304:4930486L24Rik	UTSW	13	60853538	missense	probably damaging	0.98
R9340:4930486L24Rik	UTSW	13	60853833	missense	probably benign	0.20
R9485:4930486L24Rik	UTSW	13	60853245	missense	possibly damaging	0.88
R9489:4930486L24Rik	UTSW	13	60854869	missense	probably damaging	1.00
R9798:4930486L24Rik	UTSW	13	60853120	missense	possibly damaging	0.69

Posted On

2013-10-07