Mutagenetix > Incidental Mutation

Incidental Mutation 'R4447:1700014D04Rik'

328811

Institutional Source

Beutler Lab

Gene Symbol

1700014D04Rik

Ensembl Gene

ENSMUSG00000051054

Gene Name

RIKEN cDNA 1700014D04 gene

Synonyms

MMRRC Submission

041708-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R4447 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59740842-59746752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59742198 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 603 (T603A)

Ref Sequence

ENSEMBL: ENSMUSP00000136424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055343] [ENSMUST00000178508] [ENSMUST00000180139]

AlphaFold

J3QMS2

Predicted Effect

probably benign
Transcript: ENSMUST00000055343
AA Change: T185A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054
AA Change: T185A

Domain	Start	End	E-Value	Type
low complexity region	204	215	N/A	INTRINSIC
low complexity region	253	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178508

SMART Domains

Protein: ENSMUSP00000136897
Gene: ENSMUSG00000051054

Domain	Start	End	E-Value	Type
Pfam:FAM75	66	99	7.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180139
AA Change: T603A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: T603A

Domain	Start	End	E-Value	Type
Pfam:FAM75	66	439	6.9e-97	PFAM
low complexity region	622	633	N/A	INTRINSIC
low complexity region	671	693	N/A	INTRINSIC
low complexity region	737	763	N/A	INTRINSIC
low complexity region	824	835	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225577

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3930402G23Rik	T	A	8: 10,926,129		noncoding transcript	Het
Acsf2	G	T	11: 94,569,359	P389Q	possibly damaging	Het
Aldh6a1	A	G	12: 84,439,709	V120A	possibly damaging	Het
Alg11	C	A	8: 22,068,079	A469E	probably benign	Het
Ankar	A	G	1: 72,687,789	S415P	possibly damaging	Het
Ano3	A	T	2: 110,761,578		probably null	Het
Asic4	A	T	1: 75,470,370		probably benign	Het
Atp1a4	A	C	1: 172,234,431	I709S	probably damaging	Het
Cyp11b2	T	C	15: 74,855,563	I90V	probably benign	Het
Fam129a	A	T	1: 151,636,402		probably null	Het
Galnt2	A	G	8: 124,295,377	D14G	probably benign	Het
Iqcm	T	C	8: 75,629,766	S176P	probably damaging	Het
Irf5	T	A	6: 29,535,942	D318E	probably damaging	Het
Map2k3	A	T	11: 60,947,171	S253C	probably damaging	Het
Mgst1	G	T	6: 138,141,664		probably benign	Het
Mipol1	G	T	12: 57,352,748		probably benign	Het
Olfr371	T	A	8: 85,231,366	Y290*	probably null	Het
Pomgnt1	G	T	4: 116,152,923	V161L	possibly damaging	Het
Rnpc3	T	C	3: 113,611,137		probably benign	Het
Rxfp1	C	T	3: 79,652,127		probably benign	Het
Scn5a	T	C	9: 119,550,627	D197G	probably damaging	Het
Thsd7a	G	A	6: 12,324,635	T1479I	probably damaging	Het
Twsg1	C	T	17: 65,929,787	D83N	possibly damaging	Het
Ubqln3	C	T	7: 104,142,814	R23Q	probably benign	Het
Vmn1r228	T	C	17: 20,777,107	I50V	probably damaging	Het
Wnk4	T	A	11: 101,268,451	S565T	possibly damaging	Het
Wwc2	A	G	8: 47,868,667	Y471H	unknown	Het
Zfp407	A	T	18: 84,562,694	V98D	possibly damaging	Het
Zfp598	T	A	17: 24,676,555	V73E	probably damaging	Het
Zscan29	T	A	2: 121,169,886		probably null	Het

Other mutations in 1700014D04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB010:1700014D04Rik	UTSW	13	59743751	missense	probably damaging	1.00
BB020:1700014D04Rik	UTSW	13	59743751	missense	probably damaging	1.00
R0838:1700014D04Rik	UTSW	13	59742468	missense	possibly damaging	0.75
R1483:1700014D04Rik	UTSW	13	59742903	missense	probably damaging	0.99
R1794:1700014D04Rik	UTSW	13	59742620	missense	probably benign	0.22
R1842:1700014D04Rik	UTSW	13	59742506	missense	probably damaging	1.00
R1969:1700014D04Rik	UTSW	13	59742785	missense	probably damaging	0.98
R2027:1700014D04Rik	UTSW	13	59742587	missense	possibly damaging	0.48
R2206:1700014D04Rik	UTSW	13	59743106	missense	probably benign	0.40
R2207:1700014D04Rik	UTSW	13	59743106	missense	probably benign	0.40
R2882:1700014D04Rik	UTSW	13	59742943	missense	probably benign	0.00
R3508:1700014D04Rik	UTSW	13	59742505	nonsense	probably null
R4560:1700014D04Rik	UTSW	13	59741757	missense	probably damaging	1.00
R4846:1700014D04Rik	UTSW	13	59742233	missense	probably benign	0.00
R5186:1700014D04Rik	UTSW	13	59743739	missense	probably damaging	1.00
R5510:1700014D04Rik	UTSW	13	59742420	splice site	probably null
R5580:1700014D04Rik	UTSW	13	59742256	missense	probably benign	0.00
R5752:1700014D04Rik	UTSW	13	59743202	missense	probably damaging	0.96
R6266:1700014D04Rik	UTSW	13	59742312	missense	probably benign	0.33
R6267:1700014D04Rik	UTSW	13	59742683	missense	probably benign	0.13
R6296:1700014D04Rik	UTSW	13	59742683	missense	probably benign	0.13
R6939:1700014D04Rik	UTSW	13	59742058	missense	possibly damaging	0.75
R6973:1700014D04Rik	UTSW	13	59742707	missense	probably benign	0.14
R7107:1700014D04Rik	UTSW	13	59742183	nonsense	probably null
R7123:1700014D04Rik	UTSW	13	59743440	nonsense	probably null
R7254:1700014D04Rik	UTSW	13	59741976	missense	probably benign	0.01
R7354:1700014D04Rik	UTSW	13	59741834	nonsense	probably null
R7536:1700014D04Rik	UTSW	13	59741742	missense	probably damaging	0.99
R7729:1700014D04Rik	UTSW	13	59741623	missense	not run
R7912:1700014D04Rik	UTSW	13	59742515	missense	probably damaging	1.00
R7933:1700014D04Rik	UTSW	13	59743751	missense	probably damaging	1.00
R8029:1700014D04Rik	UTSW	13	59742377	missense	possibly damaging	0.79
R8347:1700014D04Rik	UTSW	13	59742236	missense	possibly damaging	0.63
R8370:1700014D04Rik	UTSW	13	59743952	missense	probably benign
R8395:1700014D04Rik	UTSW	13	59741726	missense	probably benign	0.00
R8508:1700014D04Rik	UTSW	13	59743598	missense	probably benign	0.02
R8930:1700014D04Rik	UTSW	13	59742201	missense	possibly damaging	0.76
R8932:1700014D04Rik	UTSW	13	59742201	missense	possibly damaging	0.76
R9127:1700014D04Rik	UTSW	13	59743014	missense	probably benign	0.00
R9262:1700014D04Rik	UTSW	13	59742588	missense	probably benign	0.00
R9401:1700014D04Rik	UTSW	13	59742198	missense	probably benign	0.03
R9514:1700014D04Rik	UTSW	13	59742992	missense	probably damaging	0.96
R9786:1700014D04Rik	UTSW	13	59742684	missense	possibly damaging	0.84
X0024:1700014D04Rik	UTSW	13	59742725	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTATAGAATCAGACCCTGACCGAAC -3'
(R):5'- AAGCTCCGACCTTCTCCATG -3'

Sequencing Primer
(F):5'- AAACAGCTCCCTGGCCTTGAG -3'
(R):5'- GGAGACAAGATAGAAACCACAGACTC -3'

Posted On

2015-07-21