Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02883:1810055G02Rik'

362874

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1810055G02Rik

Ensembl Gene

ENSMUSG00000035372

Gene Name

RIKEN cDNA 1810055G02 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

3708333-3717881 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3716972 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 186 (S186R)

Ref Sequence

ENSEMBL: ENSMUSP00000047063 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039048
AA Change: S186R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047063
Gene: ENSMUSG00000035372
AA Change: S186R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 31,096,345		probably benign	Het
Cacna1h	G	T	17: 25,380,532	R1726S	probably damaging	Het
Cdca2	T	C	14: 67,707,497	S133G	probably damaging	Het
Cep295nl	A	T	11: 118,333,909	S36R	probably benign	Het
Crispld1	A	G	1: 17,746,789	N190S	possibly damaging	Het
Crtam	A	G	9: 40,994,501	V44A	probably benign	Het
Crtc1	C	T	8: 70,406,125	G112S	probably benign	Het
Cyp17a1	T	C	19: 46,669,351	N254S	probably benign	Het
Dmrta1	T	C	4: 89,688,774	S156P	probably benign	Het
Eno2	A	C	6: 124,766,209	V188G	probably damaging	Het
Fam20a	A	T	11: 109,675,127	I427N	probably damaging	Het
Fat2	T	C	11: 55,256,618	K3933E	probably benign	Het
Gm15448	A	G	7: 3,822,180	S488P	possibly damaging	Het
Igkv8-30	T	C	6: 70,117,617	M1V	probably null	Het
Ist1	G	A	8: 109,683,668		probably benign	Het
Kank4	T	C	4: 98,773,453	E765G	possibly damaging	Het
Kat14	T	C	2: 144,393,529	L92S	probably damaging	Het
Kcnu1	G	A	8: 25,849,827	V58I	probably benign	Het
Lrba	T	A	3: 86,445,413	I1956N	probably damaging	Het
Lrba	T	A	3: 86,354,206	V1489E	probably damaging	Het
Mdn1	G	A	4: 32,763,199	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,586,709	G122*	probably null	Het
Nme3	T	C	17: 24,896,906	Y78H	probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Ppp2r5c	T	G	12: 110,522,563	V56G	possibly damaging	Het
Pramef25	T	C	4: 143,949,848	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,327,348	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,906,998	V344A	probably damaging	Het
Selp	G	A	1: 164,130,102	A267T	probably benign	Het
Sf3a1	T	A	11: 4,179,192	W718R	probably damaging	Het
Taar9	T	C	10: 24,109,480	N19D	probably benign	Het
Tas2r113	T	G	6: 132,893,419	S137A	probably damaging	Het
Traf4	A	T	11: 78,161,621	I66N	possibly damaging	Het
Ucp3	A	T	7: 100,480,642	T164S	probably benign	Het
Uggt1	A	T	1: 36,177,615	N96K	probably benign	Het
Uqcc1	T	A	2: 155,911,829	Q42L	possibly damaging	Het
Vmn1r128	A	G	7: 21,349,515	K48R	probably benign	Het

Other mutations in 1810055G02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:1810055G02Rik	APN	19	3717040	missense	probably benign	0.02
R0909:1810055G02Rik	UTSW	19	3715788	missense	probably benign	0.00
R1482:1810055G02Rik	UTSW	19	3717192	missense	probably benign	0.01
R2158:1810055G02Rik	UTSW	19	3716608	missense	possibly damaging	0.46
R4833:1810055G02Rik	UTSW	19	3716872	missense	possibly damaging	0.87
R5012:1810055G02Rik	UTSW	19	3717217	missense	possibly damaging	0.92
R5557:1810055G02Rik	UTSW	19	3717501	missense	possibly damaging	0.66
R7411:1810055G02Rik	UTSW	19	3717241	missense	possibly damaging	0.92
R7573:1810055G02Rik	UTSW	19	3715728	start codon destroyed	probably null	0.04
R8164:1810055G02Rik	UTSW	19	3717454	missense	probably benign
R8265:1810055G02Rik	UTSW	19	3716568	missense	probably benign	0.00
R8781:1810055G02Rik	UTSW	19	3717538	missense	possibly damaging	0.90
X0026:1810055G02Rik	UTSW	19	3716826	missense	probably damaging	0.96

Posted On

2015-12-18