Mutagenetix > Incidental Mutation

Incidental Mutation 'R8395:1700014D04Rik'

647582

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 #

R8395 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59740842-59746752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59741726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 760 (V760A)

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 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: V760A

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

SMART Domains

Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: V760A

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,080,217	E352G	possibly damaging	Het
Ascc3	T	C	10: 50,649,304	F532L	possibly damaging	Het
Bckdk	G	A	7: 127,907,967	V328I	probably benign	Het
Cenpu	T	C	8: 46,554,049	Y26H	probably benign	Het
Clk3	A	T	9: 57,765,162	V119E	probably benign	Het
Cnn2	A	G	10: 79,992,459	N90S	probably benign	Het
Dlk2	T	C	17: 46,301,043	I78T	probably damaging	Het
Ercc8	G	T	13: 108,187,254	E367*	probably null	Het
Gbp9	A	T	5: 105,080,203	I571K	probably damaging	Het
Gm3404	T	C	5: 146,525,914	I29T	possibly damaging	Het
Gpat4	GTGTT	GT	8: 23,179,482		probably benign	Het
Heatr5a	A	G	12: 51,916,178	S74P		Het
Htr6	T	G	4: 139,061,767	M326L	possibly damaging	Het
Ighv5-8	C	T	12: 113,655,193	A76V	unknown	Het
Ippk	A	G	13: 49,461,620	E493G	probably damaging	Het
Kiz	A	G	2: 146,953,029	N603S	possibly damaging	Het
Limch1	A	T	5: 66,969,051	K7N	probably damaging	Het
Lrp1b	C	T	2: 40,657,399	C4257Y		Het
Map4k5	C	G	12: 69,830,429	R381T	probably null	Het
Map9	A	G	3: 82,381,969	I455V	probably benign	Het
Mpped1	T	C	15: 83,800,056	V93A	probably damaging	Het
Myh10	T	C	11: 68,792,016	L1129P	probably damaging	Het
Neb	T	A	2: 52,175,633	M6196L	probably benign	Het
Neb	C	A	2: 52,257,794	V2738F	probably damaging	Het
Olfr1049	G	A	2: 86,255,534	S53F	possibly damaging	Het
Olfr287	A	G	15: 98,207,619	V255A	probably benign	Het
Sgf29	T	A	7: 126,672,665	C287*	probably null	Het
Siglece	A	G	7: 43,656,099	V398A	probably benign	Het
Slc43a1	T	C	2: 84,840,922	L67P	probably damaging	Het
Slco2a1	A	G	9: 103,077,040	H470R	probably benign	Het
Syngr1	T	C	15: 80,113,244	S188P	probably benign	Het
Trpm4	T	C	7: 45,309,210	D885G	probably benign	Het
Ubd	A	T	17: 37,195,358	Q45L	probably damaging	Het
Unc45a	A	T	7: 80,326,332	C800S	probably benign	Het
Vmn2r112	A	G	17: 22,618,606	T683A	possibly damaging	Het
Vmn2r25	T	A	6: 123,823,023	T787S	possibly damaging	Het
Vmn2r85	G	A	10: 130,425,928	P180L	probably damaging	Het
Vtcn1	T	C	3: 100,883,754	F36S	probably benign	Het
Wdr86	A	G	5: 24,730,189	L52P	probably damaging	Het
Xpo4	A	T	14: 57,648,467	S43T	probably benign	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly 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
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
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'- AGGATGTTCCCTCTTGCTTG -3'
(R):5'- CCATCAAAGATGTCAGTCCCTG -3'

Sequencing Primer
(F):5'- TGATTTCTCCTTACTAGGTTGGC -3'
(R):5'- AGATGTCAGTCCCTGAAGAGCC -3'

Posted On

2020-09-02