Mutagenetix > Incidental Mutation

Incidental Mutation 'R2158:1810055G02Rik'

235019

Institutional Source

Beutler Lab

Gene Symbol

1810055G02Rik

Ensembl Gene

ENSMUSG00000035372

Gene Name

RIKEN cDNA 1810055G02 gene

Synonyms

MMRRC Submission

040161-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R2158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3758343-3767882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3766608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 65 (V65A)

Ref Sequence

ENSEMBL: ENSMUSP00000047063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039048]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039048
AA Change: V65A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047063
Gene: ENSMUSG00000035372
AA Change: V65A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	86	97	N/A	INTRINSIC
low complexity region	265	288	N/A	INTRINSIC
low complexity region	292	310	N/A	INTRINSIC
transmembrane domain	343	365	N/A	INTRINSIC

Meta Mutation Damage Score

0.1073

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	T	2: 35,275,680 (GRCm39)	S38T	possibly damaging	Het
Adam4	A	G	12: 81,468,537 (GRCm39)	L28S	probably damaging	Het
Agmo	T	A	12: 37,407,709 (GRCm39)	F198I	probably damaging	Het
Akap7	A	G	10: 25,047,062 (GRCm39)	V45A	probably damaging	Het
Amotl1	G	T	9: 14,486,465 (GRCm39)	N476K	probably benign	Het
Apcs	A	G	1: 172,722,100 (GRCm39)	L82P	probably damaging	Het
Armc3	C	A	2: 19,253,444 (GRCm39)	P195Q	probably damaging	Het
Astn2	A	T	4: 66,322,491 (GRCm39)	L36Q	unknown	Het
Atad2	A	T	15: 57,961,962 (GRCm39)	S870T	possibly damaging	Het
Bmp10	A	T	6: 87,411,062 (GRCm39)	D285V	probably benign	Het
Caskin1	T	C	17: 24,724,128 (GRCm39)	V972A	probably benign	Het
Ccdc141	T	A	2: 76,861,015 (GRCm39)	N921Y	probably damaging	Het
Cntnap5b	A	T	1: 100,318,297 (GRCm39)	D1019V	probably damaging	Het
Eml5	T	C	12: 98,810,205 (GRCm39)		probably benign	Het
Evi5l	T	C	8: 4,243,195 (GRCm39)	Y360H	probably damaging	Het
Ewsr1	A	G	11: 5,041,450 (GRCm39)		probably benign	Het
Fn3k	A	T	11: 121,339,712 (GRCm39)	N158I	probably damaging	Het
Galnt17	C	T	5: 130,935,540 (GRCm39)	R381Q	probably damaging	Het
Golga3	A	T	5: 110,335,227 (GRCm39)	K180N	probably damaging	Het
Hipk1	A	G	3: 103,667,854 (GRCm39)	L571P	probably damaging	Het
Hormad2	T	A	11: 4,374,808 (GRCm39)	K69*	probably null	Het
Hspg2	A	T	4: 137,244,915 (GRCm39)	D880V	probably damaging	Het
Ido2	T	A	8: 25,030,652 (GRCm39)	D226V	probably damaging	Het
Irs3	A	G	5: 137,642,961 (GRCm39)	F159S	probably damaging	Het
Itgb1bp1	T	C	12: 21,326,860 (GRCm39)	T38A	probably damaging	Het
Kif11	A	G	19: 37,399,062 (GRCm39)	I749V	probably benign	Het
Lrp1b	T	G	2: 40,769,567 (GRCm39)	M2811L	probably benign	Het
Lysmd3	A	G	13: 81,817,737 (GRCm39)	Y238C	probably damaging	Het
Mapk11	G	A	15: 89,030,575 (GRCm39)	T106M	probably damaging	Het
Mdga2	C	T	12: 66,736,155 (GRCm39)	V358I	possibly damaging	Het
Muc4	C	T	16: 32,754,563 (GRCm38)	T1479I	probably benign	Het
Myom1	T	C	17: 71,371,592 (GRCm39)	V578A	possibly damaging	Het
Nek10	T	G	14: 14,885,047 (GRCm38)		probably null	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Or2t47	T	A	11: 58,442,768 (GRCm39)	Q99L	probably damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or51a24	T	G	7: 103,734,033 (GRCm39)	T85P	probably benign	Het
Or51v14	G	C	7: 103,261,443 (GRCm39)	T39R	possibly damaging	Het
Or52a5b	G	T	7: 103,417,168 (GRCm39)	C145*	probably null	Het
Or8d23	T	C	9: 38,841,875 (GRCm39)	M136T	probably damaging	Het
Pde4dip	A	T	3: 97,664,937 (GRCm39)	C333S	probably benign	Het
Pglyrp2	T	A	17: 32,637,222 (GRCm39)	I269F	probably benign	Het
Plch1	A	G	3: 63,628,655 (GRCm39)	V536A	probably benign	Het
Popdc2	T	A	16: 38,183,188 (GRCm39)	L57Q	probably damaging	Het
Pramel14	T	C	4: 143,720,885 (GRCm39)	R19G	possibly damaging	Het
Riox1	A	G	12: 83,997,709 (GRCm39)	K82E	probably benign	Het
Rnasel	G	A	1: 153,630,647 (GRCm39)	V388M	probably damaging	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Snx25	A	G	8: 46,494,444 (GRCm39)	S814P	probably damaging	Het
Spta1	A	T	1: 174,056,824 (GRCm39)	H1859L	probably benign	Het
Strc	T	C	2: 121,196,343 (GRCm39)	I1562V	probably benign	Het
Taar5	T	A	10: 23,846,986 (GRCm39)	I128N	probably damaging	Het
Ttc28	C	T	5: 111,325,483 (GRCm39)		probably benign	Het
Vcan	A	T	13: 89,851,648 (GRCm39)	M1104K	possibly damaging	Het
Vnn1	C	T	10: 23,776,653 (GRCm39)	Q335*	probably null	Het
Zic1	T	C	9: 91,246,946 (GRCm39)	D42G	possibly damaging	Het

Other mutations in 1810055G02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:1810055G02Rik	APN	19	3,767,040 (GRCm39)	missense	probably benign	0.02
IGL02883:1810055G02Rik	APN	19	3,766,972 (GRCm39)	missense	possibly damaging	0.83
R0909:1810055G02Rik	UTSW	19	3,765,788 (GRCm39)	missense	probably benign	0.00
R1482:1810055G02Rik	UTSW	19	3,767,192 (GRCm39)	missense	probably benign	0.01
R4833:1810055G02Rik	UTSW	19	3,766,872 (GRCm39)	missense	possibly damaging	0.87
R5012:1810055G02Rik	UTSW	19	3,767,217 (GRCm39)	missense	possibly damaging	0.92
R5557:1810055G02Rik	UTSW	19	3,767,501 (GRCm39)	missense	possibly damaging	0.66
R7411:1810055G02Rik	UTSW	19	3,767,241 (GRCm39)	missense	possibly damaging	0.92
R7573:1810055G02Rik	UTSW	19	3,765,728 (GRCm39)	start codon destroyed	probably null	0.04
R8164:1810055G02Rik	UTSW	19	3,767,454 (GRCm39)	missense	probably benign
R8265:1810055G02Rik	UTSW	19	3,766,568 (GRCm39)	missense	probably benign	0.00
R8781:1810055G02Rik	UTSW	19	3,767,538 (GRCm39)	missense	possibly damaging	0.90
R8906:1810055G02Rik	UTSW	19	3,766,686 (GRCm39)	missense	possibly damaging	0.82
R9224:1810055G02Rik	UTSW	19	3,767,100 (GRCm39)	missense	possibly damaging	0.66
R9614:1810055G02Rik	UTSW	19	3,767,364 (GRCm39)	missense	possibly damaging	0.92
R9712:1810055G02Rik	UTSW	19	3,765,784 (GRCm39)	missense	probably benign
X0026:1810055G02Rik	UTSW	19	3,766,826 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTCCTGCATGTGGTTGAAAGTG -3'
(R):5'- CTTGGCACTTCTGCATGTGG -3'

Sequencing Primer
(F):5'- CTGCATGTGGTTGAAAGTGTTCTATC -3'
(R):5'- GGAGCCCAGCAATGGTG -3'

Posted On

2014-10-01