Mutagenetix > Incidental Mutation

Incidental Mutation 'R0132:Iqcc'

21681

Institutional Source

Beutler Lab

Gene Symbol

Iqcc

Ensembl Gene

ENSMUSG00000040795

Gene Name

IQ motif containing C

Synonyms

MMRRC Submission

038417-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R0132 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

129509410-129512969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 129510392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 374 (E374D)

Ref Sequence

ENSEMBL: ENSMUSP00000040584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030586] [ENSMUST00000046675] [ENSMUST00000106035] [ENSMUST00000106037] [ENSMUST00000121442] [ENSMUST00000174073] [ENSMUST00000137090] [ENSMUST00000150357] [ENSMUST00000151838] [ENSMUST00000179209]

AlphaFold

A2ADZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000030586

SMART Domains

Protein: ENSMUSP00000030586
Gene: ENSMUSG00000028795

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
Pfam:DUF4061	85	185	4.3e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000046675
AA Change: E374D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040584
Gene: ENSMUSG00000040795
AA Change: E374D

Domain	Start	End	E-Value	Type
IQ	5	27	6.6e-2	SMART
low complexity region	150	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106035

SMART Domains

Protein: ENSMUSP00000101652
Gene: ENSMUSG00000028795

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
Pfam:DUF4061	86	178	2.2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106037

SMART Domains

Protein: ENSMUSP00000101653
Gene: ENSMUSG00000078552

Domain	Start	End	E-Value	Type
DCX	1	85	7.69e-26	SMART
DCX	118	205	6.22e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121442

SMART Domains

Protein: ENSMUSP00000113036
Gene: ENSMUSG00000040795

Domain	Start	End	E-Value	Type
IQ	5	27	6.6e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141361

Predicted Effect

probably benign
Transcript: ENSMUST00000174073

SMART Domains

Protein: ENSMUSP00000133325
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137090

SMART Domains

Protein: ENSMUSP00000117568
Gene: ENSMUSG00000028797

Domain	Start	End	E-Value	Type
Pfam:UPF0546	11	62	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150357

SMART Domains

Protein: ENSMUSP00000118241
Gene: ENSMUSG00000028795

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
Pfam:DUF4061	85	104	7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151838

SMART Domains

Protein: ENSMUSP00000122229
Gene: ENSMUSG00000028795

Domain	Start	End	E-Value	Type
low complexity region	66	74	N/A	INTRINSIC
Pfam:DUF4061	85	120	1.1e-13	PFAM
low complexity region	132	147	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179209

SMART Domains

Protein: ENSMUSP00000135913
Gene: ENSMUSG00000078552

Domain	Start	End	E-Value	Type
DCX	1	86	1.32e-24	SMART
DCX	91	178	1.1e-12	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.2%
20x: 84.8%

Validation Efficiency

90% (52/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,258,197 (GRCm39)	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,260,960 (GRCm39)	I1057N	possibly damaging	Het
Anxa5	G	A	3: 36,504,821 (GRCm39)	A247V	probably damaging	Het
Ascc3	T	G	10: 50,611,425 (GRCm39)	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,770,743 (GRCm39)	P389S	probably damaging	Het
Bpifa6	T	A	2: 153,824,851 (GRCm39)	S9T	probably benign	Het
Cfhr4	T	A	1: 139,682,009 (GRCm39)	T196S	probably damaging	Het
Chd8	A	G	14: 52,442,783 (GRCm39)	V589A	probably benign	Het
Chrnb2	T	C	3: 89,671,713 (GRCm39)	M1V	probably null	Het
Col16a1	T	A	4: 129,960,889 (GRCm39)	V449E	unknown	Het
Cttnbp2nl	T	G	3: 104,913,173 (GRCm39)	K237T	probably damaging	Het
Dazap1	T	G	10: 80,114,060 (GRCm39)		probably null	Het
Fam187b	T	A	7: 30,688,545 (GRCm39)	V22E	probably damaging	Het
Fcgbpl1	A	G	7: 27,837,040 (GRCm39)	R320G	probably damaging	Het
H2-T24	T	A	17: 36,325,878 (GRCm39)	I238F	probably damaging	Het
Hectd4	A	G	5: 121,471,087 (GRCm39)	E2658G	probably benign	Het
Herc1	A	C	9: 66,388,192 (GRCm39)	I3826L	probably benign	Het
Hinfp	A	G	9: 44,211,060 (GRCm39)	C67R	probably damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Hspg2	T	C	4: 137,279,198 (GRCm39)	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,747,091 (GRCm39)	V67A	probably damaging	Het
Kcnj9	T	C	1: 172,153,765 (GRCm39)	T120A	probably damaging	Het
Kitl	C	T	10: 99,923,226 (GRCm39)	P208S	probably benign	Het
Lpcat4	A	G	2: 112,077,093 (GRCm39)	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,371,016 (GRCm39)	N227S	probably damaging	Het
Mdc1	T	A	17: 36,163,473 (GRCm39)	V1007D	probably damaging	Het
Mocos	T	G	18: 24,812,819 (GRCm39)	I571S	probably benign	Het
Myh8	A	G	11: 67,183,014 (GRCm39)	N659D	probably damaging	Het
Naip2	A	G	13: 100,320,296 (GRCm39)	V240A	probably benign	Het
Nap1l1	T	C	10: 111,321,370 (GRCm39)	S37P	probably benign	Het
Nin	T	G	12: 70,097,915 (GRCm39)	K515T	probably damaging	Het
Npl	T	A	1: 153,384,864 (GRCm39)	K258*	probably null	Het
Ntn4	T	A	10: 93,480,569 (GRCm39)	S98T	possibly damaging	Het
Or10x1	T	C	1: 174,197,152 (GRCm39)	V223A	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5k14	C	A	16: 58,693,269 (GRCm39)	M81I	probably benign	Het
Ppox	C	A	1: 171,106,849 (GRCm39)	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,531,517 (GRCm39)	L1380S	probably benign	Het
Psd4	C	A	2: 24,295,363 (GRCm39)	A839E	probably damaging	Het
Ptprn2	T	G	12: 116,685,711 (GRCm39)	F57V	probably damaging	Het
Ptprt	C	T	2: 162,120,030 (GRCm39)	V146I	probably benign	Het
R3hdm2	T	A	10: 127,334,322 (GRCm39)	M915K	probably damaging	Het
Rab26	C	T	17: 24,749,759 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Rprd2	T	C	3: 95,681,673 (GRCm39)	K407E	probably damaging	Het
Siah3	G	A	14: 75,693,574 (GRCm39)	V27I	possibly damaging	Het
Slc14a2	T	A	18: 78,235,338 (GRCm39)	N280Y	probably damaging	Het
Slc25a35	A	G	11: 68,862,786 (GRCm39)	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Slc35d1	C	T	4: 103,065,378 (GRCm39)	V189I	probably benign	Het
Srrm1	G	A	4: 135,067,884 (GRCm39)	R322*	probably null	Het
Stac3	A	T	10: 127,339,519 (GRCm39)	R138S	probably damaging	Het
Tmem260	T	A	14: 48,720,779 (GRCm39)	C306*	probably null	Het
Tspyl1	A	G	10: 34,159,085 (GRCm39)	N270S	probably damaging	Het
Ugt2a2	T	A	5: 87,622,720 (GRCm39)	K293*	probably null	Het
Vmn2r102	A	C	17: 19,899,025 (GRCm39)	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,932,511 (GRCm39)	S139R	probably benign	Het
Zmym2	A	G	14: 57,180,715 (GRCm39)	N876D	probably benign	Het

Other mutations in Iqcc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01991:Iqcc	APN	4	129,511,582 (GRCm39)	missense	probably benign	0.08
IGL02134:Iqcc	APN	4	129,512,818 (GRCm39)	missense	probably damaging	1.00
IGL02420:Iqcc	APN	4	129,510,748 (GRCm39)	missense	probably benign	0.00
FR4976:Iqcc	UTSW	4	129,510,469 (GRCm39)	unclassified	probably benign
R0131:Iqcc	UTSW	4	129,510,392 (GRCm39)	missense	probably damaging	1.00
R0131:Iqcc	UTSW	4	129,510,392 (GRCm39)	missense	probably damaging	1.00
R1520:Iqcc	UTSW	4	129,510,762 (GRCm39)	missense	possibly damaging	0.90
R5043:Iqcc	UTSW	4	129,512,070 (GRCm39)	unclassified	probably benign
R5389:Iqcc	UTSW	4	129,512,413 (GRCm39)	missense	probably benign	0.32
R5645:Iqcc	UTSW	4	129,510,320 (GRCm39)	missense	possibly damaging	0.64
R6242:Iqcc	UTSW	4	129,510,639 (GRCm39)	missense	probably damaging	0.99
R7335:Iqcc	UTSW	4	129,510,501 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- TCACAGCATCTGCTTTTGGGAACC -3'
(R):5'- ACCTCCCTACAGCAGTTGAAAGTCC -3'

Sequencing Primer
(F):5'- GATCCCCAGATCTTTCCTGATG -3'
(R):5'- AGTCCTAGAGGATCAGATCCCTG -3'

Posted On

2013-04-11