Mutagenetix > Incidental Mutation

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

Essential gene?

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

Stock #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

3758343-3767882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3766972 bp (GRCm39)

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]

AlphaFold

no structure available at present

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: 30,915,163 (GRCm39)		probably benign	Het
Cacna1h	G	T	17: 25,599,506 (GRCm39)	R1726S	probably damaging	Het
Cdca2	T	C	14: 67,944,946 (GRCm39)	S133G	probably damaging	Het
Cep295nl	A	T	11: 118,224,735 (GRCm39)	S36R	probably benign	Het
Crispld1	A	G	1: 17,817,013 (GRCm39)	N190S	possibly damaging	Het
Crtam	A	G	9: 40,905,797 (GRCm39)	V44A	probably benign	Het
Crtc1	C	T	8: 70,858,775 (GRCm39)	G112S	probably benign	Het
Cyp17a1	T	C	19: 46,657,790 (GRCm39)	N254S	probably benign	Het
Dmrta1	T	C	4: 89,577,011 (GRCm39)	S156P	probably benign	Het
Eno2	A	C	6: 124,743,172 (GRCm39)	V188G	probably damaging	Het
Fam20a	A	T	11: 109,565,953 (GRCm39)	I427N	probably damaging	Het
Fat2	T	C	11: 55,147,444 (GRCm39)	K3933E	probably benign	Het
Igkv8-30	T	C	6: 70,094,601 (GRCm39)	M1V	probably null	Het
Ist1	G	A	8: 110,410,300 (GRCm39)		probably benign	Het
Kank4	T	C	4: 98,661,690 (GRCm39)	E765G	possibly damaging	Het
Kat14	T	C	2: 144,235,449 (GRCm39)	L92S	probably damaging	Het
Kcnu1	G	A	8: 26,339,855 (GRCm39)	V58I	probably benign	Het
Lrba	T	A	3: 86,261,513 (GRCm39)	V1489E	probably damaging	Het
Lrba	T	A	3: 86,352,720 (GRCm39)	I1956N	probably damaging	Het
Mdn1	G	A	4: 32,763,199 (GRCm39)	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,563,670 (GRCm39)	G122*	probably null	Het
Nme3	T	C	17: 25,115,880 (GRCm39)	Y78H	probably benign	Het
Pira13	A	G	7: 3,825,179 (GRCm39)	S488P	possibly damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Ppp2r5c	T	G	12: 110,488,997 (GRCm39)	V56G	possibly damaging	Het
Pramel16	T	C	4: 143,676,418 (GRCm39)	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,238,644 (GRCm39)	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,895,430 (GRCm39)	V344A	probably damaging	Het
Selp	G	A	1: 163,957,671 (GRCm39)	A267T	probably benign	Het
Sf3a1	T	A	11: 4,129,192 (GRCm39)	W718R	probably damaging	Het
Taar9	T	C	10: 23,985,378 (GRCm39)	N19D	probably benign	Het
Tas2r113	T	G	6: 132,870,382 (GRCm39)	S137A	probably damaging	Het
Traf4	A	T	11: 78,052,447 (GRCm39)	I66N	possibly damaging	Het
Ucp3	A	T	7: 100,129,849 (GRCm39)	T164S	probably benign	Het
Uggt1	A	T	1: 36,216,696 (GRCm39)	N96K	probably benign	Het
Uqcc1	T	A	2: 155,753,749 (GRCm39)	Q42L	possibly damaging	Het
Vmn1r128	A	G	7: 21,083,440 (GRCm39)	K48R	probably benign	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
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
R2158:1810055G02Rik	UTSW	19	3,766,608 (GRCm39)	missense	possibly damaging	0.46
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

Posted On

2015-12-18