Mutagenetix > Incidental Mutation

Incidental Mutation 'R1842:1700014D04Rik'

205843

Institutional Source

Beutler Lab

Gene Symbol

1700014D04Rik

Ensembl Gene

ENSMUSG00000051054

Gene Name

RIKEN cDNA 1700014D04 gene

Synonyms

MMRRC Submission

039867-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1842 (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 59742506 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 82 (Y82C)

Ref Sequence

ENSEMBL: ENSMUSP00000052403 (fasta)

Gene Model

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

AlphaFold

J3QMS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000055343
AA Change: Y82C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054
AA Change: Y82C

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 damaging
Transcript: ENSMUST00000180139
AA Change: Y500C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: Y500C

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: 90.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,197,039	N1087K	probably benign	Het
Abcc3	G	A	11: 94,359,612	T921I	probably benign	Het
Abr	T	A	11: 76,508,986	I4F	probably damaging	Het
Adcy10	T	A	1: 165,503,243	V25D	probably damaging	Het
Ahnak	T	A	19: 9,005,867	M1505K	probably damaging	Het
Alms1-ps2	T	C	6: 85,796,249		noncoding transcript	Het
Apob	C	G	12: 8,011,559	T3347S	probably damaging	Het
Arhgap27	C	A	11: 103,339,996	G11W	probably damaging	Het
Armc4	A	T	18: 7,223,551	D497E	probably benign	Het
Ccdc110	A	T	8: 45,940,568	I106F	probably damaging	Het
Ccdc28b	T	A	4: 129,621,013	D101V	probably damaging	Het
Ccdc30	T	C	4: 119,331,127	E566G	probably benign	Het
Cenpm	T	C	15: 82,239,364	S111G	probably benign	Het
Cep55	A	G	19: 38,057,900	I34V	probably benign	Het
Dcdc2a	T	C	13: 25,107,602	L190S	probably damaging	Het
Dhh	T	C	15: 98,894,560		probably null	Het
Dst	A	G	1: 34,164,119	N703S	probably null	Het
E030025P04Rik	G	A	11: 109,139,570	L164F	unknown	Het
Efcab5	A	G	11: 77,134,875	V538A	probably benign	Het
Egflam	A	G	15: 7,303,941	S177P	probably benign	Het
Ehbp1l1	A	T	19: 5,725,930	C31S	probably damaging	Het
Eif2d	C	A	1: 131,171,060	Q532K	probably damaging	Het
Elf3	T	C	1: 135,256,793	D175G	possibly damaging	Het
F5	T	C	1: 164,184,560	V449A	probably damaging	Het
Fam110a	A	T	2: 151,970,034	I272N	probably damaging	Het
Fbxo34	A	G	14: 47,531,007	D608G	probably damaging	Het
Flrt2	T	C	12: 95,779,284	L132P	probably damaging	Het
Frg2f1	A	T	4: 119,531,080	V74D	possibly damaging	Het
Gad1	G	T	2: 70,574,253	E162D	probably benign	Het
Glb1l	A	G	1: 75,200,460	V444A	probably damaging	Het
Gm10770	G	A	2: 150,179,156	T147I	probably damaging	Het
Gm43302	T	C	5: 105,277,736	I276V	probably benign	Het
Greb1	T	C	12: 16,696,243	H1314R	probably damaging	Het
Hapln2	A	G	3: 88,024,001	V69A	probably damaging	Het
Hcn1	T	C	13: 117,976,008	I836T	probably damaging	Het
Hspa5	A	G	2: 34,775,803	D553G	probably damaging	Het
Iqgap1	A	T	7: 80,760,883	I194N	probably damaging	Het
Kansl3	A	G	1: 36,351,744	V304A	probably damaging	Het
Kdm5d	C	T	Y: 927,798	S716L	probably damaging	Het
Klra6	T	C	6: 130,022,610	T132A	probably benign	Het
Krt26	CTAGTA	CTA	11: 99,333,526		probably benign	Het
Lrp1	A	G	10: 127,573,468	I1594T	possibly damaging	Het
Lrp2bp	A	G	8: 46,011,115	D15G	probably benign	Het
Map4k1	T	C	7: 28,987,163	L170P	probably damaging	Het
Mast3	A	G	8: 70,780,393	F1108L	possibly damaging	Het
Mettl5	G	T	2: 69,885,342	L6I	unknown	Het
Mfsd14a	A	T	3: 116,632,408	F447I	possibly damaging	Het
Mrc2	A	G	11: 105,337,720	I642V	probably damaging	Het
Necap1	A	G	6: 122,874,588	Y7C	probably damaging	Het
Nsd1	G	A	13: 55,246,445	E723K	probably damaging	Het
Nsun3	A	T	16: 62,776,392	L121H	probably damaging	Het
Nsun6	A	T	2: 15,009,477	M284K	probably damaging	Het
Nutf2	T	C	8: 105,876,610		probably null	Het
Olfr1166	A	T	2: 88,124,127	M286K	probably damaging	Het
Olfr352	A	T	2: 36,869,589	N8Y	probably damaging	Het
Pacs1	T	C	19: 5,155,884	E288G	probably damaging	Het
Peg10	A	T	6: 4,756,381		probably benign	Het
Rab38	G	A	7: 88,450,522	E82K	possibly damaging	Het
Rgsl1	T	A	1: 153,799,797	E206V	probably damaging	Het
Scube3	G	A	17: 28,165,089	V521I	probably damaging	Het
Sgpp1	C	T	12: 75,716,208	V400M	probably damaging	Het
Slc18b1	T	C	10: 23,805,993	S152P	possibly damaging	Het
Slit1	A	T	19: 41,721,038		probably null	Het
Spta1	A	G	1: 174,195,947	K640R	probably benign	Het
Svil	A	G	18: 5,062,373	T898A	probably damaging	Het
Tex45	T	A	8: 3,483,668	F295L	possibly damaging	Het
Timm44	A	G	8: 4,260,510		probably null	Het
Tomm40	A	G	7: 19,713,725	S127P	probably benign	Het
Vmn2r23	T	A	6: 123,729,690	V493D	possibly damaging	Het
Yeats2	T	C	16: 20,171,238	V288A	probably damaging	Het
Zfhx4	C	T	3: 5,401,498	R2239W	probably damaging	Het
Zscan2	A	C	7: 80,875,553	K341Q	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
R1794:1700014D04Rik	UTSW	13	59742620	missense	probably benign	0.22
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'- CGCTGTCTACATGTAAGAGGGTG -3'
(R):5'- TGGGTCGGATTCCAATCGTG -3'

Sequencing Primer
(F):5'- TGTCTACATGTAAGAGGGTGAGAGAG -3'
(R):5'- GCTCGATGAAGATGCGTCTCTC -3'

Posted On

2014-06-23