Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01621:A730017C20Rik'

92564

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A730017C20Rik

Ensembl Gene

ENSMUSG00000050875

Gene Name

RIKEN cDNA A730017C20 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

59062248-59076962 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 59062386 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000113487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058633] [ENSMUST00000117064] [ENSMUST00000118510] [ENSMUST00000165666] [ENSMUST00000175830]

AlphaFold

Q8C4X7

Predicted Effect

probably benign
Transcript: ENSMUST00000058633

SMART Domains

Protein: ENSMUSP00000056379
Gene: ENSMUSG00000050875

Domain	Start	End	E-Value	Type
Pfam:UPF0258	4	151	7.2e-29	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000117064
AA Change: M1V

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000118510

SMART Domains

Protein: ENSMUSP00000113023
Gene: ENSMUSG00000050875

Domain	Start	End	E-Value	Type
Pfam:UPF0258	4	151	7.2e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154125

Predicted Effect

probably null
Transcript: ENSMUST00000165666
AA Change: M1V

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125952
Gene: ENSMUSG00000050875
AA Change: M1V

Domain	Start	End	E-Value	Type
Pfam:UPF0258	51	192	3.4e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175830

SMART Domains

Protein: ENSMUSP00000135330
Gene: ENSMUSG00000050875

Domain	Start	End	E-Value	Type
Pfam:UPF0258	4	150	6.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175897

SMART Domains

Protein: ENSMUSP00000135020
Gene: ENSMUSG00000050875

Domain	Start	End	E-Value	Type
Pfam:UPF0258	25	146	4e-30	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 63,898,383	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 90,064,502	M56K	possibly damaging	Het
5730559C18Rik	C	A	1: 136,219,775	A402S	probably damaging	Het
Abca6	A	G	11: 110,184,708	L1319S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aloxe3	A	G	11: 69,130,013	N188S	probably benign	Het
Ap1s1	G	A	5: 137,041,804	R119*	probably null	Het
Apc2	T	G	10: 80,306,201	L318R	probably damaging	Het
Atg101	A	G	15: 101,287,095	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,015,868		probably benign	Het
Bpifb9b	C	A	2: 154,316,951		probably null	Het
Braf	A	T	6: 39,646,853		probably benign	Het
Cabp5	A	G	7: 13,401,264	D43G	probably damaging	Het
Cfap46	T	C	7: 139,606,607	N2462S	unknown	Het
Cit	C	T	5: 115,992,603		probably benign	Het
Cpa4	T	C	6: 30,574,416	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,629,554	I474V	probably benign	Het
Dennd1a	C	A	2: 37,844,809	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,148,221	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,680,840	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897		probably null	Het
E2f6	A	G	12: 16,825,368	D268G	probably benign	Het
Evi2b	T	A	11: 79,516,300	T150S	probably damaging	Het
F13b	A	G	1: 139,503,851	D53G	probably benign	Het
Fbxo38	G	A	18: 62,522,524		probably benign	Het
Flnb	C	T	14: 7,950,470	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Gm13023	T	C	4: 143,793,932	F85L	probably benign	Het
Gm21759	A	G	5: 8,179,775		probably benign	Het
Gtse1	A	G	15: 85,875,082	N597S	probably benign	Het
Hcn3	G	T	3: 89,147,723	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,299,992	N107I	probably damaging	Het
Iqub	T	C	6: 24,446,212	K738E	probably benign	Het
Itga6	A	T	2: 71,825,656	D308V	probably benign	Het
Klf12	T	C	14: 100,023,149	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,358,816	*351Q	probably null	Het
Krt40	A	T	11: 99,542,868	N97K	probably damaging	Het
Lrit1	A	C	14: 37,060,155	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,510,910	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 132,054,143	S149P	probably benign	Het
Mipep	A	G	14: 60,796,165		probably benign	Het
Mslnl	A	G	17: 25,743,667		probably benign	Het
N4bp2	A	T	5: 65,790,924	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221	P190S	probably benign	Het
Nos1	T	A	5: 117,945,884	I1253N	probably damaging	Het
Nup210	G	T	6: 91,030,117	F572L	probably damaging	Het
Olfr1381	T	C	11: 49,552,137	L130P	probably damaging	Het
Olfr370	T	C	8: 83,541,618	V158A	probably benign	Het
Olfr390	T	C	11: 73,787,277	F113S	probably damaging	Het
P4htm	T	A	9: 108,583,736	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,504,807	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,685,422	E240G	probably benign	Het
Pex5l	T	C	3: 33,014,961		probably null	Het
Plcd1	T	C	9: 119,076,178	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,372,099	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,835,092	Q386L	possibly damaging	Het
Prpf40b	A	G	15: 99,310,045		probably benign	Het
Rdh11	C	T	12: 79,186,413		probably null	Het
Ripor3	A	T	2: 167,997,252	S110T	probably damaging	Het
Sec24d	G	A	3: 123,294,158		probably null	Het
Secisbp2l	T	C	2: 125,773,211	S165G	probably benign	Het
Shank1	C	T	7: 44,342,465	A698V	unknown	Het
Shank1	T	C	7: 44,351,599	M914T	unknown	Het
Slc22a3	T	C	17: 12,458,492	Q263R	probably benign	Het
Smc1a	C	A	X: 152,036,129	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,846,861		probably benign	Het
Tacc2	C	A	7: 130,729,768	T484K	probably damaging	Het
Ubr4	G	T	4: 139,440,783	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,308,605	M163I	probably benign	Het
Zfp69	T	A	4: 120,931,500	K206M	probably damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	probably damaging	Het

Other mutations in A730017C20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:A730017C20Rik	APN	18	59072277	missense	probably damaging	0.98
IGL01363:A730017C20Rik	APN	18	59072308	missense	probably damaging	0.99
IGL02546:A730017C20Rik	APN	18	59072275	missense	probably damaging	0.98
R0200:A730017C20Rik	UTSW	18	59062459	splice site	probably null
R0390:A730017C20Rik	UTSW	18	59075688	missense	probably damaging	0.98
R0470:A730017C20Rik	UTSW	18	59075639	missense	probably damaging	1.00
R0608:A730017C20Rik	UTSW	18	59062459	splice site	probably null
R1980:A730017C20Rik	UTSW	18	59075667	missense	probably damaging	0.96
R4916:A730017C20Rik	UTSW	18	59072205	missense	probably damaging	0.98
R6285:A730017C20Rik	UTSW	18	59072224	missense	probably benign	0.02
R7252:A730017C20Rik	UTSW	18	59066908	critical splice acceptor site	probably null
R8771:A730017C20Rik	UTSW	18	59066980	intron	probably benign

Posted On

2013-12-09