Mutagenetix > Incidental Mutation

Incidental Mutation 'R7933:1700014D04Rik'

643722

Institutional Source

Beutler Lab

Gene Symbol

1700014D04Rik

Ensembl Gene

ENSMUSG00000051054

Gene Name

RIKEN cDNA 1700014D04 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7933 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

59740842-59746752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59743751 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 85 (L85P)

Ref Sequence

ENSEMBL: ENSMUSP00000136424 (fasta)

Gene Model

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

AlphaFold

J3QMS2

Predicted Effect

probably benign
Transcript: ENSMUST00000055343

SMART Domains

Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054

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 damaging
Transcript: ENSMUST00000178508
AA Change: L85P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136897
Gene: ENSMUSG00000051054
AA Change: L85P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000180139
AA Change: L85P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: L85P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	G	11: 50,942,400	V125A	unknown	Het
Adam34	T	A	8: 43,650,874	H578L	probably damaging	Het
Agap2	C	A	10: 127,086,920		probably benign	Het
Ago4	A	T	4: 126,507,018	M678K	probably benign	Het
Ankrd27	A	G	7: 35,601,649		probably benign	Het
Atrn	T	C	2: 130,995,066	L1150P	probably damaging	Het
Bbs1	T	A	19: 4,891,650		probably benign	Het
Camta1	C	T	4: 151,083,757	E279K	probably damaging	Het
Ccdc88c	T	C	12: 100,945,490	D695G	possibly damaging	Het
Col11a2	A	T	17: 34,056,055	K400*	probably null	Het
Cpsf4	T	A	5: 145,167,358	M1K	probably null	Het
Dnah12	A	T	14: 26,766,115	Q992L	probably benign	Het
Dnajc7	T	C	11: 100,596,212	Y145C	probably damaging	Het
Eml5	A	T	12: 98,844,020	D892E	possibly damaging	Het
Fam193a	A	G	5: 34,466,195	K23E	possibly damaging	Het
Fam214b	A	T	4: 43,035,919	C271S	probably benign	Het
Filip1	T	G	9: 79,820,047	K430T	possibly damaging	Het
Gm5089	T	C	14: 122,435,991	D106G	unknown	Het
Hip1	A	T	5: 135,460,456	N45K	probably damaging	Het
Hivep2	T	C	10: 14,127,837	S60P	probably damaging	Het
Ighv1-53	A	T	12: 115,158,409	C115*	probably null	Het
Macf1	T	C	4: 123,409,651	T353A	probably benign	Het
Mast3	A	T	8: 70,786,635	V433E	probably damaging	Het
Mast4	A	T	13: 102,772,563	M660K	probably damaging	Het
Nr2e1	T	C	10: 42,563,383	Y380C	probably damaging	Het
Olfr1465	T	A	19: 13,314,205	M27L	probably benign	Het
Olfr980	T	C	9: 40,007,135		probably benign	Het
Otog	A	G	7: 46,310,147	D720G	probably damaging	Het
Slc6a1	T	A	6: 114,311,898	W473R	probably damaging	Het
Smpd3	A	C	8: 106,255,622	C617G	probably benign	Het
Sprr3	T	C	3: 92,457,208	I110V	possibly damaging	Het
Ston1	A	G	17: 88,636,144	E326G	probably benign	Het
Tapbpl	T	G	6: 125,230,270	Q152P	probably damaging	Het
Tectb	C	T	19: 55,194,673	L319F	possibly damaging	Het
Tpp2	G	A	1: 43,960,961	G413D	probably damaging	Het
Tpsg1	A	G	17: 25,373,204	H84R	probably damaging	Het
Usp24	A	G	4: 106,428,489	N2437S	probably benign	Het
Usp32	T	C	11: 85,007,059	Q1152R	probably damaging	Het
Vmn2r6	T	C	3: 64,559,803	T92A	probably benign	Het
Xpo7	A	G	14: 70,707,348	V35A	probably benign	Het
Zan	T	A	5: 137,463,579	T1113S	unknown	Het
Zfp169	A	G	13: 48,490,481	V390A	unknown	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
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
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'- GGGAGCTACCTTAGGCAAAG -3'
(R):5'- TCTCCAGATCCCAAGAGGTC -3'

Sequencing Primer
(F):5'- CTTAGGCAAAGGTTGAGGATGGAC -3'
(R):5'- TCCAGATCCCAAGAGGTCAGAAG -3'

Posted On

2020-08-07