Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01862:Iqce'

178374

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iqce

Ensembl Gene

ENSMUSG00000036555

Gene Name

IQ motif containing E

Synonyms

1700028P05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01862

Quality Score

Status

Chromosome

Chromosomal Location

140648308-140688158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140685480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 15 (D15G)

Ref Sequence

ENSEMBL: ENSMUSP00000077050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041783] [ENSMUST00000077890] [ENSMUST00000135028] [ENSMUST00000142081]

AlphaFold

Q6PCQ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041783
AA Change: D15G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045913
Gene: ENSMUSG00000036555
AA Change: D15G

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC
low complexity region	128	139	N/A	INTRINSIC
coiled coil region	157	190	N/A	INTRINSIC
coiled coil region	212	266	N/A	INTRINSIC
coiled coil region	287	323	N/A	INTRINSIC
low complexity region	345	362	N/A	INTRINSIC
coiled coil region	398	491	N/A	INTRINSIC
IQ	552	574	1.36e-3	SMART
low complexity region	579	598	N/A	INTRINSIC
IQ	614	636	1.63e-1	SMART
low complexity region	734	753	N/A	INTRINSIC
low complexity region	754	766	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077890
AA Change: D15G

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077050
Gene: ENSMUSG00000036555
AA Change: D15G

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC
coiled coil region	112	145	N/A	INTRINSIC
coiled coil region	167	221	N/A	INTRINSIC
coiled coil region	242	278	N/A	INTRINSIC
low complexity region	300	317	N/A	INTRINSIC
coiled coil region	353	446	N/A	INTRINSIC
IQ	507	529	1.36e-3	SMART
low complexity region	534	553	N/A	INTRINSIC
IQ	569	591	1.63e-1	SMART
low complexity region	628	647	N/A	INTRINSIC
low complexity region	717	736	N/A	INTRINSIC
low complexity region	737	749	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123683

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135028
AA Change: D15G

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143397
Gene: ENSMUSG00000036555
AA Change: D15G

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139382

Predicted Effect

probably benign
Transcript: ENSMUST00000142081
AA Change: D15G

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120637
Gene: ENSMUSG00000036555
AA Change: D15G

Domain	Start	End	E-Value	Type
low complexity region	33	53	N/A	INTRINSIC
low complexity region	128	139	N/A	INTRINSIC
coiled coil region	157	185	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149674

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,837,997 (GRCm39)	S1085*	probably null	Het
Akap9	T	G	5: 4,001,705 (GRCm39)	S94A	probably damaging	Het
Akap9	T	A	5: 4,115,856 (GRCm39)	N3425K	probably damaging	Het
Anapc7	T	A	5: 122,578,182 (GRCm39)	I389N	probably benign	Het
Aqp7	G	A	4: 41,045,321 (GRCm39)	R20*	probably null	Het
Cacna1h	C	T	17: 25,602,457 (GRCm39)	G1524R	probably damaging	Het
Cacng4	T	C	11: 107,685,196 (GRCm39)	Y32C	probably damaging	Het
Cep120	A	C	18: 53,847,839 (GRCm39)	S673R	probably benign	Het
Cep162	T	C	9: 87,135,986 (GRCm39)	E19G	possibly damaging	Het
Cpxm2	C	T	7: 131,661,540 (GRCm39)	V416I	probably benign	Het
Dapk1	A	G	13: 60,874,424 (GRCm39)	T427A	probably benign	Het
Ecm1	A	T	3: 95,641,586 (GRCm39)	D549E	probably benign	Het
Efemp1	T	A	11: 28,871,428 (GRCm39)	N342K	probably damaging	Het
Erc2	T	C	14: 27,993,526 (GRCm39)		probably benign	Het
Fhip2b	C	T	14: 70,825,130 (GRCm39)	R402H	probably benign	Het
Galnt13	T	C	2: 54,747,926 (GRCm39)	V269A	probably damaging	Het
Gm6465	T	G	5: 11,899,020 (GRCm39)	L171R	probably damaging	Het
Gpatch1	A	G	7: 34,994,703 (GRCm39)	V521A	probably benign	Het
Heatr5b	A	T	17: 79,103,914 (GRCm39)	V1087E	possibly damaging	Het
Ikzf2	A	T	1: 69,578,057 (GRCm39)	V484D	probably damaging	Het
Ints4	T	A	7: 97,190,360 (GRCm39)	V953E	probably damaging	Het
Kif3a	T	A	11: 53,461,368 (GRCm39)	N4K	possibly damaging	Het
Lrch4	A	T	5: 137,635,271 (GRCm39)	I254F	probably damaging	Het
Ly75	A	T	2: 60,129,516 (GRCm39)	V1623D	probably damaging	Het
Mapt	T	A	11: 104,180,828 (GRCm39)		probably benign	Het
Mast1	A	T	8: 85,639,875 (GRCm39)		probably null	Het
Mcc	G	T	18: 44,892,363 (GRCm39)	Q84K	probably benign	Het
Mgat4f	G	A	1: 134,318,349 (GRCm39)	V374I	probably benign	Het
Mtfr2	G	A	10: 20,224,149 (GRCm39)	V28M	probably benign	Het
Myh8	T	A	11: 67,180,520 (GRCm39)	Y585*	probably null	Het
Napsa	T	C	7: 44,231,917 (GRCm39)	V202A	probably damaging	Het
Nsd2	A	G	5: 34,001,080 (GRCm39)	K199R	probably null	Het
Ntpcr	C	T	8: 126,462,837 (GRCm39)	A18V	probably benign	Het
Or2aj4	A	T	16: 19,385,426 (GRCm39)	M69K	probably damaging	Het
Or2g25	G	T	17: 37,970,368 (GRCm39)	N285K	probably damaging	Het
Or56b35	T	A	7: 104,963,439 (GRCm39)	I76N	probably damaging	Het
Or5g9	G	T	2: 85,552,472 (GRCm39)	C241F	probably damaging	Het
Or8b9	A	G	9: 37,766,477 (GRCm39)	D121G	probably damaging	Het
Os9	A	G	10: 126,935,573 (GRCm39)	V299A	probably benign	Het
Pcdhb7	T	C	18: 37,476,915 (GRCm39)	S684P	possibly damaging	Het
Phf19	A	C	2: 34,787,067 (GRCm39)		probably null	Het
Pkd1l3	G	A	8: 110,357,908 (GRCm39)		probably null	Het
Pkhd1	A	G	1: 20,429,134 (GRCm39)	I2422T	probably damaging	Het
Plxna2	T	A	1: 194,326,258 (GRCm39)	V64E	possibly damaging	Het
Psme4	T	A	11: 30,762,038 (GRCm39)	C459*	probably null	Het
Ptk6	T	C	2: 180,841,433 (GRCm39)	S159G	probably benign	Het
Rhd	T	C	4: 134,617,650 (GRCm39)	I329T	possibly damaging	Het
Scfd1	A	G	12: 51,492,494 (GRCm39)	Y601C	probably damaging	Het
Shroom3	T	C	5: 93,110,148 (GRCm39)	S1753P	probably damaging	Het
Slc8a1	A	C	17: 81,749,630 (GRCm39)		probably null	Het
Spg7	T	A	8: 123,803,669 (GRCm39)	L233Q	probably damaging	Het
Strip1	C	A	3: 107,529,198 (GRCm39)	R353L	probably damaging	Het
Ubr1	T	C	2: 120,764,823 (GRCm39)	N544D	possibly damaging	Het
Ubr4	A	G	4: 139,204,469 (GRCm39)	T4794A	possibly damaging	Het
Usp24	A	G	4: 106,266,095 (GRCm39)		probably benign	Het
Vmn1r193	A	T	13: 22,403,984 (GRCm39)	C3S	probably benign	Het
Yju2b	G	T	8: 84,987,163 (GRCm39)		probably benign	Het
Zdhhc5	C	T	2: 84,520,836 (GRCm39)	R447H	probably benign	Het
Zfp202	A	G	9: 40,123,124 (GRCm39)	I629V	probably benign	Het
Zfp462	T	A	4: 55,023,441 (GRCm39)	C990S	probably damaging	Het

Other mutations in Iqce

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Iqce	APN	5	140,663,883 (GRCm39)	nonsense	probably null
R0255:Iqce	UTSW	5	140,651,957 (GRCm39)	missense	possibly damaging	0.62
R0492:Iqce	UTSW	5	140,660,990 (GRCm39)	missense	probably damaging	0.99
R0580:Iqce	UTSW	5	140,651,156 (GRCm39)	missense	possibly damaging	0.85
R0592:Iqce	UTSW	5	140,671,862 (GRCm39)	splice site	probably null
R2177:Iqce	UTSW	5	140,677,348 (GRCm39)	splice site	probably benign
R4849:Iqce	UTSW	5	140,679,214 (GRCm39)	missense	possibly damaging	0.84
R4979:Iqce	UTSW	5	140,677,376 (GRCm39)	missense	probably damaging	1.00
R5007:Iqce	UTSW	5	140,661,003 (GRCm39)	missense	possibly damaging	0.48
R5341:Iqce	UTSW	5	140,675,814 (GRCm39)	missense	possibly damaging	0.95
R5558:Iqce	UTSW	5	140,657,560 (GRCm39)	critical splice donor site	probably null
R5765:Iqce	UTSW	5	140,651,895 (GRCm39)	missense	probably damaging	0.99
R5910:Iqce	UTSW	5	140,687,973 (GRCm39)	unclassified	probably benign
R6354:Iqce	UTSW	5	140,662,090 (GRCm39)	splice site	probably null
R6732:Iqce	UTSW	5	140,660,990 (GRCm39)	missense	probably benign
R7050:Iqce	UTSW	5	140,651,846 (GRCm39)	missense	possibly damaging	0.76
R7238:Iqce	UTSW	5	140,675,713 (GRCm39)	nonsense	probably null
R7567:Iqce	UTSW	5	140,671,830 (GRCm39)	missense	probably damaging	1.00
R7735:Iqce	UTSW	5	140,663,839 (GRCm39)	missense	probably benign	0.00
R8339:Iqce	UTSW	5	140,660,093 (GRCm39)	missense	probably damaging	0.97
R8951:Iqce	UTSW	5	140,675,578 (GRCm39)	missense	probably damaging	1.00
R9043:Iqce	UTSW	5	140,651,810 (GRCm39)	missense	probably benign	0.01
R9348:Iqce	UTSW	5	140,677,380 (GRCm39)	missense	probably damaging	1.00
R9571:Iqce	UTSW	5	140,651,862 (GRCm39)	missense	possibly damaging	0.65
R9630:Iqce	UTSW	5	140,666,591 (GRCm39)	missense	possibly damaging	0.63
R9734:Iqce	UTSW	5	140,678,564 (GRCm39)	missense	probably damaging	0.96

Posted On

2014-05-07