Mutagenetix > Incidental Mutations

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

Is this an 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