Mutagenetix > Incidental Mutation

Incidental Mutation 'R1794:1700014D04Rik'

202070

Institutional Source

Beutler Lab

Gene Symbol

1700014D04Rik

Ensembl Gene

ENSMUSG00000051054

Gene Name

RIKEN cDNA 1700014D04 gene

Synonyms

MMRRC Submission

039824-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R1794 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59740842-59746752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59742620 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 44 (E44G)

Ref Sequence

ENSEMBL: ENSMUSP00000052403 (fasta)

Gene Model

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

AlphaFold

J3QMS2

Predicted Effect

probably benign
Transcript: ENSMUST00000055343
AA Change: E44G

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054
AA Change: E44G

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: E462G

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

SMART Domains

Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: E462G

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: ENSMUST00000224350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225577

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa7	A	G	14: 20,471,467	Y54H	unknown	Het
Arhgef3	A	G	14: 27,397,605	T331A	probably benign	Het
Arhgef40	G	T	14: 51,989,930	C477F	possibly damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atp13a5	C	A	16: 29,321,709	R343L	probably damaging	Het
Brdt	ACAGCAGCAGCAGCAGC	ACAGCAGCAGCAGC	5: 107,359,853		probably benign	Het
Btbd2	G	T	10: 80,643,913	D426E	probably damaging	Het
Cabin1	A	C	10: 75,725,745	I974R	possibly damaging	Het
Cacna1i	G	A	15: 80,389,122	V1670M	probably damaging	Het
Cc2d2a	C	A	5: 43,688,252	Q288K	probably damaging	Het
Ccl20	T	A	1: 83,117,829	I37K	possibly damaging	Het
Cdcp1	A	G	9: 123,190,094	V40A	probably benign	Het
Cdcp1	T	C	9: 123,215,831	T27A	probably benign	Het
Cdh4	C	T	2: 179,886,842	T581I	probably damaging	Het
Cgn	A	G	3: 94,762,557		probably null	Het
Col7a1	G	A	9: 108,965,928	G1493D	unknown	Het
Creb3	A	G	4: 43,563,302	E133G	probably benign	Het
Dchs1	T	C	7: 105,771,720	T498A	probably benign	Het
Dis3l	A	C	9: 64,317,776	V413G	possibly damaging	Het
Dnah6	T	C	6: 73,024,958	E3865G	probably damaging	Het
Fam219b	A	G	9: 57,539,281	Y139C	probably damaging	Het
Fat3	A	T	9: 15,997,136	Y2523*	probably null	Het
Fat3	A	T	9: 15,997,138	Y2523N	probably benign	Het
Fmnl1	T	C	11: 103,197,147	S40P	probably benign	Het
Gm17727	T	A	9: 35,777,122	I56F	probably benign	Het
Gm4792	T	C	10: 94,298,490	D6G	unknown	Het
Hhat	G	T	1: 192,693,906	Y306*	probably null	Het
Hmcn1	A	G	1: 150,598,285	I4802T	probably benign	Het
Hmcn1	G	A	1: 150,627,152	T3908I	probably damaging	Het
Hsph1	A	T	5: 149,630,773	N79K	probably damaging	Het
Ikbke	T	A	1: 131,259,218	Y579F	probably damaging	Het
Jak2	A	G	19: 29,299,557	D838G	probably benign	Het
Klhdc7b	T	C	15: 89,387,020	S702P	probably benign	Het
Lingo3	C	A	10: 80,835,598	R166L	probably benign	Het
Lins1	T	C	7: 66,711,909	F436S	probably damaging	Het
Lman1	T	C	18: 65,991,684	D328G	probably benign	Het
Lox	A	G	18: 52,528,307	C232R	probably damaging	Het
Lrrc59	T	C	11: 94,638,595	V165A	probably benign	Het
Map9	A	G	3: 82,380,221	D50G	probably damaging	Het
March1	T	A	8: 66,386,942	Y126N	possibly damaging	Het
Mcf2l	T	C	8: 12,915,982	F3L	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Nin	G	A	12: 70,043,795	Q949*	probably null	Het
Nlgn3	A	G	X: 101,320,033	H636R	probably benign	Het
Notch2	A	G	3: 98,099,547	D411G	possibly damaging	Het
Olfr1263	A	G	2: 90,015,020	Y30C	probably damaging	Het
Olfr1449	G	C	19: 12,934,968	A77P	probably damaging	Het
Plekha7	A	G	7: 116,140,681	V579A	probably damaging	Het
Prrc2c	T	C	1: 162,705,959		probably benign	Het
Rab7b	T	C	1: 131,697,068		probably null	Het
Reg3b	G	T	6: 78,372,214		probably null	Het
Rgs20	A	G	1: 4,910,572	Y177H	probably damaging	Het
Ripk3	G	T	14: 55,785,329	N379K	probably benign	Het
Rnf220	G	T	4: 117,307,568	Q7K	probably benign	Het
Ros1	T	A	10: 52,124,103	K1109*	probably null	Het
Slc22a7	T	G	17: 46,433,153	R460S	probably damaging	Het
Slc4a2	A	G	5: 24,439,328	M975V	probably damaging	Het
Slc4a3	A	T	1: 75,557,308	I1100F	probably damaging	Het
Smco1	A	G	16: 32,274,132	E207G	probably benign	Het
Snrnp200	A	G	2: 127,216,736	E369G	probably benign	Het
Tcf4	T	A	18: 69,657,853	M178K	probably benign	Het
Tex2	T	C	11: 106,567,902		probably benign	Het
Tjp1	A	T	7: 65,323,129	I521N	probably damaging	Het
Tmem203	A	G	2: 25,255,994	T109A	probably benign	Het
Tmem50b	T	C	16: 91,578,029	I126V	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	T	C	1: 188,862,809	F3813L	probably benign	Het
Vmn1r203	C	T	13: 22,524,351	R101W	probably damaging	Het
Vmn2r79	G	A	7: 87,001,413	V136I	probably benign	Het
Wdr38	A	G	2: 39,000,729	Y205C	probably damaging	Het
Zfp248	A	G	6: 118,429,303	F442L	probably damaging	Het
Znrf4	A	G	17: 56,511,599	I236T	probably damaging	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
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
R4447:1700014D04Rik	UTSW	13	59742198	missense	probably benign	0.03
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
X0024:1700014D04Rik	UTSW	13	59742725	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGAGAAGGTCGGAGCTTC -3'
(R):5'- ACTTGGACCAAAGACACATGAG -3'

Sequencing Primer
(F):5'- CCAACCCAGGAATACTGTTTAATG -3'
(R):5'- GAAGCATTCTGAGGTTGCAC -3'

Posted On

2014-06-23