Mutagenetix > Incidental Mutations

Incidental Mutation 'R0766:Iqch'

69504

Institutional Source

Beutler Lab

Gene Symbol

Iqch

Ensembl Gene

ENSMUSG00000037801

Gene Name

IQ motif containing H

Synonyms

4921504K03Rik

MMRRC Submission

038946-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0766 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63421455-63602493 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63482683 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 738 (S738L)

Ref Sequence

ENSEMBL: ENSMUSP00000128482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042322] [ENSMUST00000080527] [ENSMUST00000163624] [ENSMUST00000163982] [ENSMUST00000171243]

Predicted Effect

probably benign
Transcript: ENSMUST00000042322
AA Change: S738L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: S738L

Domain	Start	End	E-Value	Type
low complexity region	257	267	N/A	INTRINSIC
IQ	405	427	2.79e0	SMART
low complexity region	479	491	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000080527

SMART Domains

Protein: ENSMUSP00000079370
Gene: ENSMUSG00000037801

Domain	Start	End	E-Value	Type
low complexity region	257	267	N/A	INTRINSIC
IQ	405	427	2.79e0	SMART
low complexity region	479	491	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126238

Predicted Effect

probably benign
Transcript: ENSMUST00000163624
AA Change: S738L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: S738L

Domain	Start	End	E-Value	Type
low complexity region	257	267	N/A	INTRINSIC
IQ	405	427	2.79e0	SMART
low complexity region	479	491	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163982
AA Change: S738L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: S738L

Domain	Start	End	E-Value	Type
low complexity region	257	267	N/A	INTRINSIC
IQ	405	427	2.79e0	SMART
low complexity region	479	491	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171243
AA Change: S699L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: S699L

Domain	Start	End	E-Value	Type
low complexity region	218	228	N/A	INTRINSIC
IQ	366	388	2.79e0	SMART
low complexity region	440	452	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191455

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.4%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	A	T	4: 103,270,797	F44I	probably damaging	Het
A2m	T	C	6: 121,676,890		probably benign	Het
Card14	T	C	11: 119,324,176	S241P	probably damaging	Het
Cdh15	G	A	8: 122,861,449		probably benign	Het
Dnah5	A	C	15: 28,448,487	K4232T	probably null	Het
Eml6	A	G	11: 29,831,219		probably benign	Het
Esd	T	C	14: 74,742,121	S122P	probably damaging	Het
Frem3	G	A	8: 80,615,322	V1415I	probably benign	Het
Fry	T	C	5: 150,403,432		probably benign	Het
Gp1ba	C	T	11: 70,641,427	P673L	probably damaging	Het
Herc1	C	T	9: 66,504,840	P4781S	probably damaging	Het
Itih2	T	A	2: 10,097,924	T800S	probably benign	Het
Itpr1	A	G	6: 108,410,900	E1533G	probably damaging	Het
Klrg1	T	C	6: 122,279,663	M55V	probably benign	Het
Lrrk2	A	G	15: 91,699,895	N286S	probably damaging	Het
Mkx	T	A	18: 6,937,192	D284V	probably benign	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Otos	A	C	1: 92,645,351	L14R	probably damaging	Het
Plch2	C	T	4: 154,989,799	V765M	probably damaging	Het
Ppp4r3b	A	T	11: 29,173,358	Q18L	probably benign	Het
Psme4	T	A	11: 30,807,687		probably null	Het
Pwp1	G	A	10: 85,879,309	D220N	probably damaging	Het
Rel	G	A	11: 23,757,010	T64I	probably damaging	Het
Snai2	T	A	16: 14,708,247	M254K	possibly damaging	Het
Sntb2	A	G	8: 107,001,577	T386A	probably damaging	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tex22	A	G	12: 113,088,523	N67S	possibly damaging	Het
Trank1	T	G	9: 111,347,469	S270A	probably benign	Het
Ttc30a2	A	T	2: 75,976,332	V612D	probably benign	Het
Vcp	T	C	4: 42,988,728	T249A	possibly damaging	Het
Vmn1r167	A	G	7: 23,505,123	F156S	probably benign	Het
Vrk2	G	A	11: 26,535,522		probably benign	Het
Wdfy4	T	C	14: 33,140,612	E601G	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het
Zfp638	A	G	6: 83,929,041	N63D	probably damaging	Het

Other mutations in Iqch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Iqch	APN	9	63480654	missense	probably damaging	0.96
IGL01472:Iqch	APN	9	63547934	missense	probably benign	0.02
IGL01553:Iqch	APN	9	63500917	missense	probably benign	0.00
IGL01611:Iqch	APN	9	63496237	critical splice acceptor site	probably null
IGL02608:Iqch	APN	9	63421828	unclassified	probably benign
IGL03060:Iqch	APN	9	63524914	missense	probably damaging	1.00
IGL03154:Iqch	APN	9	63454682	missense	probably damaging	0.97
I2288:Iqch	UTSW	9	63500890	missense	probably benign	0.01
R0002:Iqch	UTSW	9	63594743	splice site	probably benign
R0350:Iqch	UTSW	9	63500876	missense	probably benign	0.43
R0532:Iqch	UTSW	9	63508232	splice site	probably benign
R0629:Iqch	UTSW	9	63425382	missense	probably benign	0.22
R0710:Iqch	UTSW	9	63525136	missense	probably benign
R1797:Iqch	UTSW	9	63588377	missense	possibly damaging	0.58
R1856:Iqch	UTSW	9	63534337	splice site	probably null
R1954:Iqch	UTSW	9	63548016	missense	probably benign	0.00
R1955:Iqch	UTSW	9	63548016	missense	probably benign	0.00
R2184:Iqch	UTSW	9	63525069	missense	probably damaging	0.99
R2264:Iqch	UTSW	9	63512299	missense	probably benign	0.27
R4614:Iqch	UTSW	9	63482581	missense	probably benign
R4643:Iqch	UTSW	9	63594802	missense	probably benign	0.00
R4654:Iqch	UTSW	9	63524913	missense	probably damaging	0.99
R4665:Iqch	UTSW	9	63445571	missense	probably damaging	1.00
R5027:Iqch	UTSW	9	63525012	missense	possibly damaging	0.87
R5042:Iqch	UTSW	9	63496234	missense	possibly damaging	0.48
R5551:Iqch	UTSW	9	63496253	intron	probably null
R5829:Iqch	UTSW	9	63425357	critical splice donor site	probably null
R5878:Iqch	UTSW	9	63547990	missense	probably damaging	0.99
R6816:Iqch	UTSW	9	63480759	missense	probably benign	0.02
R6930:Iqch	UTSW	9	63480574	missense	possibly damaging	0.79
R7000:Iqch	UTSW	9	63454610	missense	probably benign
R7026:Iqch	UTSW	9	63525139	nonsense	probably null
R7066:Iqch	UTSW	9	63524745	missense	probably benign	0.24
R7111:Iqch	UTSW	9	63512317	missense	possibly damaging	0.79
R7129:Iqch	UTSW	9	63421909	missense	probably benign	0.09
R7177:Iqch	UTSW	9	63421835	makesense	probably null
R7252:Iqch	UTSW	9	63512236	critical splice donor site	probably null
R7485:Iqch	UTSW	9	63508317	missense	possibly damaging	0.47
R7541:Iqch	UTSW	9	63445521	missense	possibly damaging	0.95
X0066:Iqch	UTSW	9	63429058	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCAACGGCAGAAGCAGTTTCTACAC -3'
(R):5'- TGGGCTACTGATGACCAGCACAAG -3'

Sequencing Primer
(F):5'- CTGGCTTGACCCAGAACTAGAAG -3'
(R):5'- TGCCTTCTGGAGACAATATGC -3'

Posted On

2013-09-30