Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02173:1700113H08Rik'

282990

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700113H08Rik

Ensembl Gene

ENSMUSG00000047129

Gene Name

RIKEN cDNA 1700113H08 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL02173

Quality Score

Status

Chromosome

Chromosomal Location

86893909-87066451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87061754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 68 (H68L)

Ref Sequence

ENSEMBL: ENSMUSP00000130852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169849] [ENSMUST00000189456] [ENSMUST00000189775]

AlphaFold

E9Q9Q5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169849
AA Change: H68L

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130852
Gene: ENSMUSG00000047129
AA Change: H68L

Domain	Start	End	E-Value	Type
Pfam:DUF4607	71	325	2.1e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189456

SMART Domains

Protein: ENSMUSP00000140447
Gene: ENSMUSG00000047129

Domain	Start	End	E-Value	Type
Pfam:DUF4607	45	206	6.2e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189775

SMART Domains

Protein: ENSMUSP00000141184
Gene: ENSMUSG00000047129

Domain	Start	End	E-Value	Type
Pfam:DUF4607	6	160	6.8e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219879

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,708,060 (GRCm39)		noncoding transcript	Het
4933409G03Rik	A	G	2: 68,443,401 (GRCm39)	T182A	unknown	Het
Abca2	T	A	2: 25,331,909 (GRCm39)	D1340E	probably benign	Het
Abcc12	G	A	8: 87,293,071 (GRCm39)	A39V	probably damaging	Het
Acap2	T	C	16: 30,926,965 (GRCm39)	R510G	possibly damaging	Het
Ace	G	T	11: 105,879,817 (GRCm39)	R719L	probably benign	Het
Adarb1	A	C	10: 77,157,659 (GRCm39)	F263V	probably damaging	Het
Ahcyl	T	C	16: 45,974,441 (GRCm39)	N312S	probably benign	Het
Ambra1	T	C	2: 91,748,013 (GRCm39)	S1130P	probably benign	Het
Aqp7	A	T	4: 41,034,379 (GRCm39)	L260*	probably null	Het
Cntn5	G	T	9: 9,748,401 (GRCm39)	S493R	probably damaging	Het
Crhr2	A	G	6: 55,080,165 (GRCm39)	F138S	probably damaging	Het
D2hgdh	T	A	1: 93,757,611 (GRCm39)	D175E	probably benign	Het
Dtx4	G	T	19: 12,450,621 (GRCm39)	Y530*	probably null	Het
Elp4	T	A	2: 105,533,088 (GRCm39)	H419L	probably damaging	Het
Etv6	A	G	6: 134,225,690 (GRCm39)	D218G	possibly damaging	Het
Exoc5	A	G	14: 49,272,258 (GRCm39)		probably benign	Het
Fyb1	C	T	15: 6,610,176 (GRCm39)	P250S	probably benign	Het
Gaa	A	G	11: 119,165,739 (GRCm39)	Y84C	probably damaging	Het
Galns	A	T	8: 123,325,365 (GRCm39)	S262R	probably damaging	Het
Gfus	A	G	15: 75,798,034 (GRCm39)	S233P	probably damaging	Het
Kctd16	T	C	18: 40,663,906 (GRCm39)	I345T	probably benign	Het
Lats2	A	G	14: 57,934,717 (GRCm39)	V671A	probably damaging	Het
Maml3	C	A	3: 51,598,208 (GRCm39)	L179F	probably damaging	Het
Myo1f	T	C	17: 33,826,318 (GRCm39)	L1089P	probably damaging	Het
Nadsyn1	A	T	7: 143,357,743 (GRCm39)		probably benign	Het
Or1e34	A	G	11: 73,778,949 (GRCm39)	M83T	possibly damaging	Het
Or51k1	G	A	7: 103,661,037 (GRCm39)	P291S	probably damaging	Het
Or7d9	T	C	9: 20,197,691 (GRCm39)	V240A	probably benign	Het
Or9i1	A	G	19: 13,839,378 (GRCm39)	T74A	probably benign	Het
Otog	T	C	7: 45,926,165 (GRCm39)		probably benign	Het
Pcbd1	A	G	10: 60,927,983 (GRCm39)		probably benign	Het
Pced1a	A	G	2: 130,264,248 (GRCm39)	V164A	possibly damaging	Het
Pgd	A	G	4: 149,241,210 (GRCm39)	I233T	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sec24d	A	T	3: 123,147,330 (GRCm39)	H733L	probably damaging	Het
Slc1a2	T	A	2: 102,574,206 (GRCm39)	N205K	probably benign	Het
Sstr2	G	T	11: 113,515,842 (GRCm39)	V254L	probably damaging	Het
Tm9sf2	G	T	14: 122,380,835 (GRCm39)	V308F	probably benign	Het
Tor3a	T	C	1: 156,501,776 (GRCm39)	K34E	probably benign	Het
Ubr4	T	A	4: 139,164,381 (GRCm39)		probably null	Het
Vmn1r56	A	G	7: 5,199,117 (GRCm39)	S167P	probably damaging	Het
Zswim3	T	A	2: 164,662,759 (GRCm39)	I413N	probably damaging	Het

Other mutations in 1700113H08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01688:1700113H08Rik	APN	10	87,000,985 (GRCm39)	missense	probably damaging	1.00
IGL01764:1700113H08Rik	APN	10	86,909,910 (GRCm39)	start codon destroyed	probably benign	0.02
IGL02756:1700113H08Rik	APN	10	87,000,970 (GRCm39)	missense	probably damaging	0.99
IGL03202:1700113H08Rik	APN	10	86,909,911 (GRCm39)	start codon destroyed	probably null	0.35
IGL03393:1700113H08Rik	APN	10	86,909,902 (GRCm39)	utr 5 prime	probably benign
R0255:1700113H08Rik	UTSW	10	87,061,907 (GRCm39)	missense	probably damaging	1.00
R0409:1700113H08Rik	UTSW	10	87,061,816 (GRCm39)	missense	probably damaging	0.98
R0744:1700113H08Rik	UTSW	10	87,000,931 (GRCm39)	missense	probably damaging	1.00
R0833:1700113H08Rik	UTSW	10	87,000,931 (GRCm39)	missense	probably damaging	1.00
R1163:1700113H08Rik	UTSW	10	86,957,284 (GRCm39)	missense	probably damaging	0.99
R2128:1700113H08Rik	UTSW	10	87,066,066 (GRCm39)	missense	possibly damaging	0.94
R2129:1700113H08Rik	UTSW	10	87,066,066 (GRCm39)	missense	possibly damaging	0.94
R4108:1700113H08Rik	UTSW	10	87,061,796 (GRCm39)	missense	probably damaging	1.00
R5541:1700113H08Rik	UTSW	10	87,061,808 (GRCm39)	missense	probably benign	0.00
R6345:1700113H08Rik	UTSW	10	87,061,913 (GRCm39)	missense	probably benign	0.43
R6372:1700113H08Rik	UTSW	10	87,066,088 (GRCm39)	missense	possibly damaging	0.92
R6710:1700113H08Rik	UTSW	10	87,061,923 (GRCm39)	missense	probably benign	0.00
R6971:1700113H08Rik	UTSW	10	87,000,903 (GRCm39)	missense	possibly damaging	0.91
R7055:1700113H08Rik	UTSW	10	87,062,083 (GRCm39)	missense	probably damaging	0.99
R7713:1700113H08Rik	UTSW	10	87,066,173 (GRCm39)	missense	possibly damaging	0.80
R7808:1700113H08Rik	UTSW	10	86,957,297 (GRCm39)	missense	probably benign	0.33
R7838:1700113H08Rik	UTSW	10	87,042,061 (GRCm39)	splice site	probably null
R8293:1700113H08Rik	UTSW	10	87,061,864 (GRCm39)	missense	possibly damaging	0.92
R9041:1700113H08Rik	UTSW	10	87,062,054 (GRCm39)	missense	probably benign	0.03
R9351:1700113H08Rik	UTSW	10	87,066,068 (GRCm39)	missense	probably benign	0.27

Posted On

2015-04-16