Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02415:1110059G10Rik'

292398

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1110059G10Rik

Ensembl Gene

ENSMUSG00000032551

Gene Name

RIKEN cDNA 1110059G10 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02415

Quality Score

Status

Chromosome

Chromosomal Location

122945089-122951000 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122947991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 124 (D124G)

Ref Sequence

ENSEMBL: ENSMUSP00000035154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035154] [ENSMUST00000040717] [ENSMUST00000118422] [ENSMUST00000213745] [ENSMUST00000214652] [ENSMUST00000217401]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035154
AA Change: D124G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000035154
Gene: ENSMUSG00000032551
AA Change: D124G

Domain	Start	End	E-Value	Type
Pfam:DUF4604	4	152	6.9e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040717

SMART Domains

Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768

Domain	Start	End	E-Value	Type
KISc	24	371	2.86e-179	SMART
Pfam:Kinesin-relat_1	463	551	6.6e-26	PFAM
coiled coil region	579	643	N/A	INTRINSIC
coiled coil region	706	1037	N/A	INTRINSIC
coiled coil region	1065	1133	N/A	INTRINSIC
Pfam:HMMR_C	1265	1387	3.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118422

Predicted Effect

probably benign
Transcript: ENSMUST00000213745

Predicted Effect

probably benign
Transcript: ENSMUST00000214652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216730

Predicted Effect

probably benign
Transcript: ENSMUST00000217401

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	A	2: 26,989,283	I616N	possibly damaging	Het
Adamts3	T	C	5: 89,706,647		probably null	Het
Amy1	T	C	3: 113,563,585	I202V	probably benign	Het
Bdp1	G	A	13: 100,089,408	T322I	probably damaging	Het
Cep295	A	G	9: 15,353,020	L110S	probably damaging	Het
Cep72	T	C	13: 74,050,154	D369G	probably benign	Het
Chd3	A	T	11: 69,348,913		probably benign	Het
Ckmt2	G	A	13: 91,863,340		probably benign	Het
Cyp2s1	T	C	7: 25,808,137	T296A	probably damaging	Het
E2f5	T	A	3: 14,603,897	V283E	probably benign	Het
F5	A	G	1: 164,191,929	T658A	probably damaging	Het
Fam102b	A	G	3: 108,980,292	Y219H	probably damaging	Het
Gml	A	T	15: 74,816,440	Y59*	probably null	Het
Kmo	A	T	1: 175,649,323		probably benign	Het
Krt25	A	T	11: 99,322,572	I107N	probably damaging	Het
Llgl2	A	G	11: 115,853,285	M773V	probably damaging	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Med12	T	C	X: 101,281,790	V761A	probably damaging	Het
Mrpl19	T	C	6: 81,963,961	T150A	probably benign	Het
Muc2	G	T	7: 141,751,872	E646*	probably null	Het
Muc20	T	A	16: 32,794,681	T109S	unknown	Het
Nr2f6	T	C	8: 71,374,512	T382A	probably benign	Het
Nrap	A	G	19: 56,382,309	I172T	probably damaging	Het
Olfr1434	A	G	19: 12,283,498	Y150C	probably benign	Het
Olfr911-ps1	T	C	9: 38,524,112	C127R	probably benign	Het
P3h1	A	T	4: 119,247,955	Q710L	probably benign	Het
Parvb	A	G	15: 84,292,815	H185R	probably damaging	Het
Pkhd1	T	C	1: 20,522,759	Y1710C	probably damaging	Het
Pkhd1	A	G	1: 20,414,421	I1970T	probably damaging	Het
Plxna2	C	A	1: 194,643,964	R69S	probably damaging	Het
Rad51ap2	A	G	12: 11,456,929	N284S	possibly damaging	Het
Reln	T	A	5: 21,971,951	S1906C	possibly damaging	Het
Rln1	T	C	19: 29,334,398	R67G	probably damaging	Het
Shcbp1	C	T	8: 4,754,239	V224I	possibly damaging	Het
Slc13a4	A	G	6: 35,283,237		probably null	Het
Stx6	A	G	1: 155,193,313	E195G	possibly damaging	Het
Sult2b1	G	T	7: 45,742,085	D90E	possibly damaging	Het
Taok1	A	G	11: 77,540,240		probably benign	Het
Tbx15	A	T	3: 99,352,510	M566L	probably benign	Het
Tcaf1	C	T	6: 42,686,650	A99T	probably benign	Het
Tcf20	T	A	15: 82,853,459	M1264L	probably benign	Het
Tenm4	G	A	7: 96,874,074	V1571M	probably damaging	Het
Ttc39a	A	G	4: 109,431,529		probably benign	Het
Ubr1	C	A	2: 120,970,603		probably benign	Het
Ulk1	T	C	5: 110,787,621	D926G	probably damaging	Het
Vmn2r110	T	C	17: 20,583,771	I181V	probably benign	Het
Vmn2r66	G	A	7: 85,006,812	T332I	probably damaging	Het
Wdr1	C	A	5: 38,531,110	D161Y	probably damaging	Het
Wnt7a	T	C	6: 91,394,557	Y141C	probably damaging	Het
Xrra1	G	A	7: 99,915,943	E573K	probably benign	Het
Zfp334	G	T	2: 165,381,851	Q91K	possibly damaging	Het

Other mutations in 1110059G10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03120:1110059G10Rik	APN	9	122,949,053 (GRCm38)	missense	probably benign	0.01
R4908:1110059G10Rik	UTSW	9	122,948,943 (GRCm38)	missense	probably benign	0.28
R8314:1110059G10Rik	UTSW	9	122,948,928 (GRCm38)	missense	probably benign
R8848:1110059G10Rik	UTSW	9	122,949,041 (GRCm38)	missense	probably benign	0.01
R9052:1110059G10Rik	UTSW	9	122,948,966 (GRCm38)	missense	probably damaging	0.99

Posted On

2015-04-16