Mutagenetix > Incidental Mutation

Incidental Mutation 'R9571:Iqce'

721981

Institutional Source

Beutler Lab

Gene Symbol

Iqce

Ensembl Gene

ENSMUSG00000036555

Gene Name

IQ motif containing E

Synonyms

1700028P05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9571 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140648308-140688158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140651862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 704 (D704N)

Ref Sequence

ENSEMBL: ENSMUSP00000045913 (fasta)

Gene Model

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

AlphaFold

Q6PCQ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041783
AA Change: D704N

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045913
Gene: ENSMUSG00000036555
AA Change: D704N

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

probably damaging
Transcript: ENSMUST00000077890
AA Change: D687N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077050
Gene: ENSMUSG00000036555
AA Change: D687N

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

SMART Domains

Protein: ENSMUSP00000121457
Gene: ENSMUSG00000036555
AA Change: D370N

Domain	Start	End	E-Value	Type
coiled coil region	1	33	N/A	INTRINSIC
low complexity region	42	52	N/A	INTRINSIC
coiled coil region	88	181	N/A	INTRINSIC
IQ	186	208	1.36e-3	SMART
low complexity region	213	232	N/A	INTRINSIC
IQ	248	270	1.63e-1	SMART
low complexity region	312	331	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	G	2: 130,247,482 (GRCm39)	D6G	probably benign	Het
Abl2	T	G	1: 156,469,084 (GRCm39)	S783A	probably damaging	Het
Adamtsl1	A	T	4: 86,117,543 (GRCm39)	T169S	probably benign	Het
Adcy9	A	G	16: 4,141,653 (GRCm39)	V621A	probably benign	Het
Ahnak2	T	C	12: 112,742,510 (GRCm39)	S521G	possibly damaging	Het
Ap2m1	G	A	16: 20,360,037 (GRCm39)	G213R	probably damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arl4d	T	C	11: 101,558,032 (GRCm39)	M186T	possibly damaging	Het
Cep192	A	G	18: 67,952,109 (GRCm39)	D428G	probably damaging	Het
Ckap5	A	C	2: 91,387,953 (GRCm39)	D266A	probably damaging	Het
Crls1	A	T	2: 132,691,793 (GRCm39)	N106I	probably damaging	Het
Csmd3	T	A	15: 48,655,398 (GRCm39)		probably benign	Het
Csnk1a1	A	G	18: 61,704,969 (GRCm39)	R161G	possibly damaging	Het
Cyp4f39	T	A	17: 32,702,196 (GRCm39)	I231N	probably damaging	Het
Ddx31	T	A	2: 28,750,034 (GRCm39)	V352D	probably damaging	Het
Dna2	A	G	10: 62,800,740 (GRCm39)	D758G	probably damaging	Het
Duxf4	G	A	10: 58,071,378 (GRCm39)	L279F	possibly damaging	Het
Gatad2a	C	A	8: 70,370,381 (GRCm39)	A172S	probably benign	Het
Ghsr	G	T	3: 27,426,664 (GRCm39)	R240L	probably benign	Het
Gli3	T	A	13: 15,900,858 (GRCm39)	M1415K	probably benign	Het
Glo1	G	A	17: 30,816,835 (GRCm39)	T107I	possibly damaging	Het
Gm10800	AAAGAAAACTGAA	ACAAGAAAACTGAA	2: 98,497,378 (GRCm39)		probably null	Het
Gm17334	C	T	11: 53,663,760 (GRCm39)	V34M	unknown	Het
Habp4	T	A	13: 64,322,615 (GRCm39)	M228K	probably benign	Het
Hacl1	A	G	14: 31,344,838 (GRCm39)	V257A	possibly damaging	Het
Ift122	T	G	6: 115,857,628 (GRCm39)	S125A	possibly damaging	Het
Jcad	T	A	18: 4,673,252 (GRCm39)	L338*	probably null	Het
Kcnj13	T	C	1: 87,316,849 (GRCm39)	D88G	probably damaging	Het
Kif1b	T	C	4: 149,305,098 (GRCm39)	D942G	probably damaging	Het
Marchf8	T	A	6: 116,383,237 (GRCm39)	S271T	probably benign	Het
Meis1	A	G	11: 18,961,378 (GRCm39)	L165S	probably damaging	Het
Morc2b	T	A	17: 33,355,178 (GRCm39)	T865S	probably benign	Het
Morc3	T	A	16: 93,641,107 (GRCm39)	N46K	possibly damaging	Het
Mpzl1	C	T	1: 165,429,374 (GRCm39)	C219Y	probably benign	Het
Mup5	A	G	4: 61,750,787 (GRCm39)		probably null	Het
Ninl	A	T	2: 150,791,803 (GRCm39)	W907R	probably benign	Het
Nol6	A	T	4: 41,120,156 (GRCm39)	S491T	probably benign	Het
Or4f53	A	T	2: 111,088,083 (GRCm39)	I208F	probably benign	Het
Or51g1	A	G	7: 102,634,221 (GRCm39)	V50A	probably benign	Het
Or5b121	T	A	19: 13,507,697 (GRCm39)	I264N	probably damaging	Het
Or6c205	C	A	10: 129,087,182 (GRCm39)	P260T	possibly damaging	Het
Osbpl6	T	A	2: 76,425,191 (GRCm39)	M919K	probably benign	Het
Otogl	A	T	10: 107,598,364 (GRCm39)	V2262E	possibly damaging	Het
Pcbp2	A	G	15: 102,383,113 (GRCm39)	D77G	possibly damaging	Het
Pcsk7	G	A	9: 45,820,907 (GRCm39)	R113Q	possibly damaging	Het
Pds5b	T	C	5: 150,645,971 (GRCm39)	I143T	probably damaging	Het
Polr2m	T	C	9: 71,386,710 (GRCm39)	E357G	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Ptprt	A	G	2: 161,395,732 (GRCm39)	V1167A	probably benign	Het
Rbm11	G	A	16: 75,397,543 (GRCm39)	E158K	possibly damaging	Het
Sall2	A	T	14: 52,551,830 (GRCm39)	V455E	probably damaging	Het
Sar1b	T	A	11: 51,680,064 (GRCm39)	L130Q	probably damaging	Het
Slc35f6	A	G	5: 30,815,180 (GRCm39)	N369S	possibly damaging	Het
Slc39a12	A	T	2: 14,412,380 (GRCm39)	M351L	probably benign	Het
Taf15	T	A	11: 83,395,487 (GRCm39)	Y397*	probably null	Het
Tmprss11e	A	T	5: 86,875,149 (GRCm39)	V39D	probably damaging	Het
Trim71	T	C	9: 114,342,359 (GRCm39)	D641G	probably damaging	Het
Trpc3	T	A	3: 36,694,909 (GRCm39)	T682S	probably damaging	Het
Tsen54	T	C	11: 115,707,933 (GRCm39)		probably null	Het
Usp6nl	A	G	2: 6,445,960 (GRCm39)	N646D	possibly damaging	Het
Vip	T	C	10: 5,590,661 (GRCm39)	F12L	probably benign	Het
Vmn1r39	A	T	6: 66,781,572 (GRCm39)	F249I	probably benign	Het
Vmn2r106	A	T	17: 20,505,641 (GRCm39)	S18T	probably benign	Het
Vmn2r97	G	T	17: 19,149,919 (GRCm39)	V436L	probably benign	Het
Washc2	T	C	6: 116,237,631 (GRCm39)		probably null	Het
Ykt6	T	C	11: 5,914,613 (GRCm39)	V171A	possibly damaging	Het
Zfp658	A	G	7: 43,222,139 (GRCm39)	D138G	possibly 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
IGL01862:Iqce	APN	5	140,685,480 (GRCm39)	missense	possibly damaging	0.93
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
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

Predicted Primers

PCR Primer
(F):5'- CCGAGTGGCCACTGTATATTG -3'
(R):5'- CGTGTCATCTGCTTCATGGC -3'

Sequencing Primer
(F):5'- ATATTGCAGGTCCTGGCTGAACAG -3'
(R):5'- TCATGGCTGCCTTGGAATC -3'

Posted On

2022-08-09