Mutagenetix > Incidental Mutations

Incidental Mutation 'R0531:4930590J08Rik'

49154

Institutional Source

Beutler Lab

Gene Symbol

4930590J08Rik

Ensembl Gene

ENSMUSG00000034063

Gene Name

RIKEN cDNA 4930590J08 gene

Synonyms

LOC381798

MMRRC Submission

038723-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0531 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91902809-91950725 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91915146 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 130 (N130D)

Ref Sequence

ENSEMBL: ENSMUSP00000146101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059318] [ENSMUST00000205686]

Predicted Effect

probably benign
Transcript: ENSMUST00000059318
AA Change: N130D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063
AA Change: N130D

Domain	Start	End	E-Value	Type
low complexity region	89	109	N/A	INTRINSIC
Pfam:FAM194	357	561	4.1e-68	PFAM
low complexity region	626	637	N/A	INTRINSIC
transmembrane domain	774	796	N/A	INTRINSIC
low complexity region	891	909	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205686
AA Change: N130D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.13

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,036,825	I743N	probably damaging	Het
Acot6	C	A	12: 84,101,301	D110E	probably benign	Het
Agrn	T	A	4: 156,179,434	N124I	probably benign	Het
Astn1	G	T	1: 158,600,389	G710V	probably damaging	Het
Bcar3	T	C	3: 122,426,499	V15A	probably benign	Het
Best3	T	C	10: 117,004,375		probably benign	Het
Cenpa	T	C	5: 30,672,493	F39L	possibly damaging	Het
Cfap44	A	T	16: 44,401,426	M1L	probably benign	Het
Chrnd	A	G	1: 87,194,819	I107M	probably damaging	Het
Col11a2	A	G	17: 34,058,377		probably benign	Het
Dnah10	G	A	5: 124,812,723		probably null	Het
Entpd8	A	G	2: 25,084,769	Y404C	probably damaging	Het
Fam118a	T	C	15: 85,048,432	I125T	possibly damaging	Het
Fam129a	T	C	1: 151,718,084	V840A	probably benign	Het
Fam161a	G	A	11: 23,020,298	E159K	possibly damaging	Het
Fkbp5	A	T	17: 28,438,029	H71Q	probably benign	Het
Frem2	A	T	3: 53,519,954	Y2926N	probably damaging	Het
Gap43	A	T	16: 42,292,328	D23E	probably damaging	Het
Glt8d1	T	C	14: 31,006,504	F3S	probably benign	Het
Gm11555	C	T	11: 99,650,018		probably benign	Het
Gtpbp1	G	A	15: 79,720,091	G667S	probably damaging	Het
H2-T24	A	C	17: 36,015,571	S145R	probably benign	Het
Inpp5b	A	T	4: 124,795,456	N843I	probably damaging	Het
Jak3	C	T	8: 71,686,976		probably benign	Het
Krt8	T	A	15: 102,001,448	M174L	probably benign	Het
Ktn1	C	T	14: 47,663,941	T52I	probably damaging	Het
Lrp4	T	C	2: 91,475,178		probably benign	Het
Nefh	G	A	11: 4,940,240	A793V	probably damaging	Het
Notch1	A	G	2: 26,466,572	S1678P	probably benign	Het
Notch2	C	T	3: 98,102,451		probably benign	Het
Nrxn3	T	C	12: 88,795,342	F53S	probably damaging	Het
Olfr1346	A	T	7: 6,474,235	I42F	possibly damaging	Het
Olfr146	G	T	9: 39,019,176	R122S	probably damaging	Het
Olfr1504	C	T	19: 13,887,752	V153I	possibly damaging	Het
Olfr209	T	A	16: 59,361,808	N137Y	probably damaging	Het
Olfr324	A	G	11: 58,597,848	I151V	probably benign	Het
Olfr961	A	G	9: 39,646,872	T49A	probably benign	Het
Pak4	T	A	7: 28,568,054	I62F	possibly damaging	Het
Pcdhb12	T	A	18: 37,437,318	F506I	probably damaging	Het
Per1	A	T	11: 69,104,190	D632V	probably damaging	Het
Plec	A	G	15: 76,177,298	M2678T	probably benign	Het
Plg	A	G	17: 12,411,447		probably benign	Het
Prmt1	A	T	7: 44,977,624	S304R	probably damaging	Het
Prr27	T	C	5: 87,842,678	F50L	probably benign	Het
Prune2	T	C	19: 17,006,753	L159P	probably damaging	Het
Ptpn12	A	T	5: 20,998,483	N432K	possibly damaging	Het
Rfwd3	A	G	8: 111,293,989		probably null	Het
Rims2	A	T	15: 39,567,030	D1170V	probably damaging	Het
Sag	T	C	1: 87,834,629		probably null	Het
Sall4	C	T	2: 168,756,336	A195T	probably benign	Het
Sbf2	G	A	7: 110,367,323		probably benign	Het
Scaper	A	T	9: 55,609,874	D599E	possibly damaging	Het
Sema7a	G	A	9: 57,960,593	S484N	possibly damaging	Het
Senp1	A	G	15: 98,064,880		probably benign	Het
Senp6	A	G	9: 80,123,884	T623A	probably damaging	Het
Siae	A	G	9: 37,627,794	D95G	probably benign	Het
Slc26a2	T	C	18: 61,198,379	D660G	probably damaging	Het
Slc3a1	T	C	17: 85,028,649	F73S	possibly damaging	Het
Slfn5	A	T	11: 82,961,040	Q664L	probably damaging	Het
Spire1	T	C	18: 67,491,305	I512V	probably damaging	Het
Srpr	A	G	9: 35,213,501	T133A	probably benign	Het
Stag1	A	G	9: 100,954,247	*175W	probably null	Het
Stk32c	C	A	7: 139,120,720	V316F	probably damaging	Het
Tekt1	A	C	11: 72,345,594	N347K	possibly damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tnpo2	T	A	8: 85,050,157	C498S	probably damaging	Het
Tra2b	G	A	16: 22,247,205	R281*	probably null	Het
Ubr5	A	T	15: 37,991,344	I1985N	probably benign	Het
Ush2a	T	G	1: 188,443,181	S1159A	probably benign	Het
Vmn1r15	C	T	6: 57,258,251	P35S	probably benign	Het
Vmn1r6	A	T	6: 57,002,598	I60L	probably benign	Het
Vps8	A	G	16: 21,459,811		probably benign	Het
Xkr7	T	C	2: 153,032,352	V113A	possibly damaging	Het

Other mutations in 4930590J08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:4930590J08Rik	APN	6	91919118	missense	possibly damaging	0.74
IGL01478:4930590J08Rik	APN	6	91934609	missense	probably benign	0.01
IGL01481:4930590J08Rik	APN	6	91933098	missense	probably damaging	1.00
IGL01485:4930590J08Rik	APN	6	91950022	missense	probably damaging	0.96
IGL01794:4930590J08Rik	APN	6	91918112	nonsense	probably null
IGL01795:4930590J08Rik	APN	6	91918112	nonsense	probably null
IGL02040:4930590J08Rik	APN	6	91918110	missense	probably benign
IGL02171:4930590J08Rik	APN	6	91944256	missense	probably benign	0.01
IGL02968:4930590J08Rik	APN	6	91923473	missense	probably damaging	1.00
IGL03358:4930590J08Rik	APN	6	91928735	missense	probably damaging	1.00
PIT4519001:4930590J08Rik	UTSW	6	91917057	missense	probably damaging	1.00
R0569:4930590J08Rik	UTSW	6	91942578	nonsense	probably null
R1536:4930590J08Rik	UTSW	6	91917035	missense	probably benign	0.20
R1730:4930590J08Rik	UTSW	6	91919278	missense	possibly damaging	0.60
R1758:4930590J08Rik	UTSW	6	91915222	missense	possibly damaging	0.79
R1783:4930590J08Rik	UTSW	6	91919278	missense	possibly damaging	0.60
R1911:4930590J08Rik	UTSW	6	91950069	splice site	probably benign
R1930:4930590J08Rik	UTSW	6	91915021	missense	probably benign	0.01
R1936:4930590J08Rik	UTSW	6	91917080	missense	possibly damaging	0.90
R2157:4930590J08Rik	UTSW	6	91917698	splice site	probably null
R2157:4930590J08Rik	UTSW	6	91942487	missense	possibly damaging	0.48
R4072:4930590J08Rik	UTSW	6	91945361	splice site	probably null
R4662:4930590J08Rik	UTSW	6	91914958	missense	probably benign
R4900:4930590J08Rik	UTSW	6	91918110	missense	probably benign
R4936:4930590J08Rik	UTSW	6	91944264	missense	probably damaging	1.00
R5394:4930590J08Rik	UTSW	6	91919193	missense	probably benign	0.00
R5887:4930590J08Rik	UTSW	6	91915143	nonsense	probably null
R5931:4930590J08Rik	UTSW	6	91919115	missense	probably damaging	1.00
R6174:4930590J08Rik	UTSW	6	91942536	missense	probably damaging	0.99
R6179:4930590J08Rik	UTSW	6	91942330	missense	probably damaging	0.96
R6380:4930590J08Rik	UTSW	6	91923137	missense	probably damaging	1.00
R6531:4930590J08Rik	UTSW	6	91949999	missense	possibly damaging	0.88
R7570:4930590J08Rik	UTSW	6	91934610	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCTTGCAGAAGTGATCCCAGTACAG -3'
(R):5'- GGGCACTCAATAGCCTTTAGACGAC -3'

Sequencing Primer
(F):5'- AGTGATCCCAGTACAGGTCCTC -3'
(R):5'- AACTCATACCTGTTGGGGTGC -3'

Posted On

2013-06-12