Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01991:1700034J05Rik'

182872

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 #

IGL01991

Quality Score

Status

Chromosome

Chromosomal Location

146950329-146954422 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146953110 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 145 (F145I)

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

probably benign
Transcript: ENSMUST00000036592
AA Change: F145I

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043802
Gene: ENSMUSG00000040163
AA Change: F145I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111622
AA Change: F145I

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107249
Gene: ENSMUSG00000040163
AA Change: F145I

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
Acot7	A	G	4: 152,223,079	K152E	possibly damaging	Het
Adamts13	G	T	2: 26,990,598	G731V	probably damaging	Het
Als2cl	C	T	9: 110,892,917	R584C	probably benign	Het
Apba1	T	A	19: 23,937,472	S679T	possibly damaging	Het
Asxl3	G	A	18: 22,516,162	V403I	probably damaging	Het
Card11	T	C	5: 140,913,378	T14A	possibly damaging	Het
Creb1	T	C	1: 64,559,754	F97L	probably benign	Het
Crispld1	T	A	1: 17,753,017	H407Q	probably benign	Het
Crtac1	A	T	19: 42,414,121	L16Q	possibly damaging	Het
Cyp2c29	T	C	19: 39,330,315	I452T	probably damaging	Het
Dennd5b	A	T	6: 149,080,824	D95E	probably damaging	Het
Dysf	C	T	6: 84,113,618	P1002L	probably damaging	Het
Gm6878	G	A	14: 67,306,229		probably benign	Het
Gm7682	A	T	5: 94,445,846	Q10L	probably benign	Het
Greb1	T	C	12: 16,699,681	Y1048C	probably damaging	Het
Iqcc	T	A	4: 129,617,789	E105V	probably benign	Het
Lhx8	A	G	3: 154,324,554	L116P	probably damaging	Het
Lrrk2	A	G	15: 91,779,946	D1962G	probably damaging	Het
Map1b	T	A	13: 99,429,569	M2215L	unknown	Het
Mapk8ip3	A	T	17: 24,927,861	L136Q	possibly damaging	Het
Mical3	T	C	6: 120,935,211	N1896D	probably damaging	Het
Mprip	A	G	11: 59,755,012	E674G	probably damaging	Het
Olfr1045	T	C	2: 86,198,533	N73S	probably benign	Het
Olfr524	C	T	7: 140,202,432	E113K	probably damaging	Het
Pdzrn4	T	A	15: 92,401,926		probably null	Het
Prom1	T	C	5: 44,047,506	T209A	probably benign	Het
Prom2	C	A	2: 127,529,222	C785F	probably damaging	Het
Psg20	T	C	7: 18,684,425	Q139R	probably benign	Het
Rapgef6	T	A	11: 54,552,869	C93S	probably benign	Het
Rassf2	C	T	2: 132,000,432		probably null	Het
Scn11a	A	G	9: 119,819,904	I31T	probably damaging	Het
Slc4a5	A	T	6: 83,263,543	D164V	possibly damaging	Het
Slco3a1	T	C	7: 74,284,396	D676G	possibly damaging	Het
Tmcc2	T	C	1: 132,361,092	I208V	probably benign	Het
Traf4	T	C	11: 78,160,046	D428G	possibly damaging	Het
Trio	T	C	15: 27,871,274	I586V	possibly damaging	Het
Unc80	T	A	1: 66,469,509	C46*	probably null	Het
Vmn2r89	A	G	14: 51,452,219	N60D	probably benign	Het
Wscd1	A	T	11: 71,787,723	K391*	probably null	Het
Wwc2	A	T	8: 47,869,866	L400*	probably null	Het

Other mutations in 1700034J05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01654:1700034J05Rik	APN	6	146953340	missense	probably damaging	1.00
IGL01725:1700034J05Rik	APN	6	146952269	missense	probably damaging	0.97
IGL01860:1700034J05Rik	APN	6	146952416	missense	possibly damaging	0.77
IGL02375:1700034J05Rik	APN	6	146953315	missense	possibly damaging	0.92
R0254:1700034J05Rik	UTSW	6	146952404	missense	probably benign	0.00
R0361:1700034J05Rik	UTSW	6	146952371	missense	possibly damaging	0.94
R0835:1700034J05Rik	UTSW	6	146953538	intron	probably benign
R1101:1700034J05Rik	UTSW	6	146952411	missense	possibly damaging	0.95
R1428:1700034J05Rik	UTSW	6	146952411	missense	possibly damaging	0.95
R1487:1700034J05Rik	UTSW	6	146953379	missense	probably benign	0.16
R1887:1700034J05Rik	UTSW	6	146952411	missense	possibly damaging	0.95
R1988:1700034J05Rik	UTSW	6	146952896	missense	possibly damaging	0.70
R1989:1700034J05Rik	UTSW	6	146952896	missense	possibly damaging	0.70
R4063:1700034J05Rik	UTSW	6	146953108	missense	probably benign	0.32
R6122:1700034J05Rik	UTSW	6	146952252	makesense	probably null
R6578:1700034J05Rik	UTSW	6	146953314	nonsense	probably null
R7029:1700034J05Rik	UTSW	6	146952343	missense	probably benign	0.00
R7585:1700034J05Rik	UTSW	6	146953353	missense	probably benign	0.00
R7842:1700034J05Rik	UTSW	6	146953536	missense	unknown
R9272:1700034J05Rik	UTSW	6	146953001	missense	probably damaging	1.00
R9444:1700034J05Rik	UTSW	6	146953226	missense	probably damaging	1.00
X0066:1700034J05Rik	UTSW	6	146953540	start codon destroyed	probably null

Posted On

2014-05-07