Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02375:1700034J05Rik'

291054

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700034J05Rik

Ensembl Gene

ENSMUSG00000040163

Gene Name

RIKEN cDNA 1700034J05 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02375

Quality Score

Status

Chromosome

Chromosomal Location

146852799-146855937 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146854813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 76 (K76N)

Ref Sequence

ENSEMBL: ENSMUSP00000107249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016631] [ENSMUST00000036592] [ENSMUST00000111622] [ENSMUST00000111623] [ENSMUST00000203730]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000016631

SMART Domains

Protein: ENSMUSP00000016631
Gene: ENSMUSG00000016487

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
PDB:3QH9\|A	180	256	3e-8	PDB
low complexity region	345	358	N/A	INTRINSIC
low complexity region	426	441	N/A	INTRINSIC
low complexity region	530	546	N/A	INTRINSIC
SAM	603	670	3.06e-13	SMART
SAM	675	741	2.39e-15	SMART
SAM	763	835	7.91e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036592
AA Change: K76N

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043802
Gene: ENSMUSG00000040163
AA Change: K76N

Domain	Start	End	E-Value	Type
Pfam:DUF4640	18	301	2.7e-128	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111622
AA Change: K76N

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107249
Gene: ENSMUSG00000040163
AA Change: K76N

Domain	Start	End	E-Value	Type
Pfam:DUF4640	18	300	1.3e-136	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111623

SMART Domains

Protein: ENSMUSP00000107250
Gene: ENSMUSG00000016487

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
PDB:3QH9\|A	180	256	3e-8	PDB
low complexity region	272	284	N/A	INTRINSIC
low complexity region	356	369	N/A	INTRINSIC
low complexity region	437	452	N/A	INTRINSIC
low complexity region	541	557	N/A	INTRINSIC
SAM	614	681	3.06e-13	SMART
SAM	686	752	2.39e-15	SMART
SAM	774	846	7.91e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203730

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agxt	A	G	1: 93,063,425 (GRCm39)	E109G	probably damaging	Het
Alcam	T	C	16: 52,109,299 (GRCm39)	T325A	probably benign	Het
Apol7c	T	C	15: 77,413,049 (GRCm39)	E67G	probably damaging	Het
Bco1	C	A	8: 117,840,178 (GRCm39)	S232Y	probably benign	Het
Cacna1c	A	T	6: 118,652,884 (GRCm39)	V763D	probably damaging	Het
Ccdc15	T	C	9: 37,215,628 (GRCm39)	D618G	probably damaging	Het
Cimip1	A	G	2: 173,364,496 (GRCm39)	M14V	probably benign	Het
Col6a5	T	C	9: 105,783,312 (GRCm39)	N1603S	unknown	Het
Cyp4v3	A	G	8: 45,761,411 (GRCm39)		probably null	Het
Eml5	A	T	12: 98,810,346 (GRCm39)	V870E	probably damaging	Het
Epn2	A	G	11: 61,410,497 (GRCm39)	V512A	probably damaging	Het
Farp2	A	G	1: 93,504,185 (GRCm39)	R321G	probably damaging	Het
Garin3	G	T	11: 46,297,379 (GRCm39)	V228L	probably damaging	Het
Gprasp1	T	C	X: 134,701,552 (GRCm39)	S582P	probably damaging	Het
Grhl2	T	C	15: 37,291,821 (GRCm39)	V303A	probably damaging	Het
Grik1	A	T	16: 87,743,444 (GRCm39)	F594L	probably damaging	Het
Hivep1	A	G	13: 42,309,925 (GRCm39)	K722E	probably benign	Het
Htr5b	G	A	1: 121,455,564 (GRCm39)	R119C	probably damaging	Het
Ifit2	T	C	19: 34,551,737 (GRCm39)	S426P	probably benign	Het
Kif13a	T	C	13: 46,978,698 (GRCm39)	Y234C	probably damaging	Het
Mios	T	A	6: 8,222,598 (GRCm39)	F511I	probably benign	Het
Mtfmt	T	C	9: 65,346,849 (GRCm39)	W148R	probably damaging	Het
Myo1c	C	A	11: 75,552,400 (GRCm39)	T391N	probably benign	Het
Nlrp1a	A	T	11: 71,004,339 (GRCm39)	L710*	probably null	Het
Nlrp1b	A	G	11: 71,052,506 (GRCm39)	I971T	probably damaging	Het
Nup43	A	G	10: 7,549,358 (GRCm39)	D171G	probably damaging	Het
Or5b12b	A	G	19: 12,861,305 (GRCm39)	E20G	probably benign	Het
P2rx7	T	C	5: 122,811,719 (GRCm39)		probably benign	Het
Pgap6	T	A	17: 26,338,473 (GRCm39)	Y512N	probably benign	Het
Poli	C	T	18: 70,656,363 (GRCm39)	G155R	probably damaging	Het
Rad9b	T	C	5: 122,471,405 (GRCm39)	S220G	possibly damaging	Het
Rgn	C	T	X: 20,416,700 (GRCm39)	S28L	probably damaging	Het
Tcp11l2	G	A	10: 84,440,932 (GRCm39)		probably null	Het
Tenm4	G	A	7: 96,353,344 (GRCm39)	V379I	possibly damaging	Het
Thsd7a	A	T	6: 12,343,264 (GRCm39)	C1118S	probably damaging	Het
Trpm7	A	G	2: 126,667,664 (GRCm39)	Y776H	probably damaging	Het
Trpv4	T	C	5: 114,774,418 (GRCm39)	N222S	probably benign	Het
Tut1	C	T	19: 8,941,403 (GRCm39)	R397C	probably damaging	Het
Vmn1r72	T	A	7: 11,403,672 (GRCm39)	T259S	probably benign	Het
Wdr17	A	G	8: 55,149,423 (GRCm39)	S2P	possibly damaging	Het

Other mutations in 1700034J05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01654:1700034J05Rik	APN	6	146,854,838 (GRCm39)	missense	probably damaging	1.00
IGL01725:1700034J05Rik	APN	6	146,853,767 (GRCm39)	missense	probably damaging	0.97
IGL01860:1700034J05Rik	APN	6	146,853,914 (GRCm39)	missense	possibly damaging	0.77
IGL01991:1700034J05Rik	APN	6	146,854,608 (GRCm39)	missense	probably benign	0.32
R0254:1700034J05Rik	UTSW	6	146,853,902 (GRCm39)	missense	probably benign	0.00
R0361:1700034J05Rik	UTSW	6	146,853,869 (GRCm39)	missense	possibly damaging	0.94
R0835:1700034J05Rik	UTSW	6	146,855,036 (GRCm39)	intron	probably benign
R1101:1700034J05Rik	UTSW	6	146,853,909 (GRCm39)	missense	possibly damaging	0.95
R1428:1700034J05Rik	UTSW	6	146,853,909 (GRCm39)	missense	possibly damaging	0.95
R1487:1700034J05Rik	UTSW	6	146,854,877 (GRCm39)	missense	probably benign	0.16
R1887:1700034J05Rik	UTSW	6	146,853,909 (GRCm39)	missense	possibly damaging	0.95
R1988:1700034J05Rik	UTSW	6	146,854,394 (GRCm39)	missense	possibly damaging	0.70
R1989:1700034J05Rik	UTSW	6	146,854,394 (GRCm39)	missense	possibly damaging	0.70
R4063:1700034J05Rik	UTSW	6	146,854,606 (GRCm39)	missense	probably benign	0.32
R6122:1700034J05Rik	UTSW	6	146,853,750 (GRCm39)	makesense	probably null
R6578:1700034J05Rik	UTSW	6	146,854,812 (GRCm39)	nonsense	probably null
R7029:1700034J05Rik	UTSW	6	146,853,841 (GRCm39)	missense	probably benign	0.00
R7585:1700034J05Rik	UTSW	6	146,854,851 (GRCm39)	missense	probably benign	0.00
R7842:1700034J05Rik	UTSW	6	146,855,034 (GRCm39)	missense	unknown
R9272:1700034J05Rik	UTSW	6	146,854,499 (GRCm39)	missense	probably damaging	1.00
R9444:1700034J05Rik	UTSW	6	146,854,724 (GRCm39)	missense	probably damaging	1.00
X0066:1700034J05Rik	UTSW	6	146,855,038 (GRCm39)	start codon destroyed	probably null

Posted On

2015-04-16