Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03154:Iqch'

411194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iqch

Ensembl Gene

ENSMUSG00000037801

Gene Name

IQ motif containing H

Synonyms

4921504K03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL03154

Quality Score

Status

Chromosome

Chromosomal Location

63328737-63509775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63361964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 850 (T850S)

Ref Sequence

ENSEMBL: ENSMUSP00000131828 (fasta)

Gene Model

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

AlphaFold

Q9D2K4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042322
AA Change: T889S

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: T889S

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

possibly damaging
Transcript: ENSMUST00000163624
AA Change: T889S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: T889S

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

possibly damaging
Transcript: ENSMUST00000163982
AA Change: T889S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: T889S

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 damaging
Transcript: ENSMUST00000171243
AA Change: T850S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: T850S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	A	G	19: 20,608,132 (GRCm39)	E318G	probably benign	Het
Alpi	A	T	1: 87,027,810 (GRCm39)	W257R	probably damaging	Het
Arap2	T	C	5: 62,800,268 (GRCm39)	E1253G	probably damaging	Het
Fbxw13	G	T	9: 109,010,533 (GRCm39)	F368L	probably damaging	Het
H2-T9	T	A	17: 36,438,767 (GRCm39)	N208I	probably benign	Het
Herc2	T	A	7: 55,851,907 (GRCm39)	D3655E	probably damaging	Het
Hkdc1	T	A	10: 62,221,484 (GRCm39)	D858V	probably damaging	Het
Ifi205	A	C	1: 173,845,232 (GRCm39)		probably benign	Het
Ighv10-3	T	A	12: 114,487,507 (GRCm39)	M1L	probably benign	Het
Igkv4-90	C	T	6: 68,784,256 (GRCm39)	G87R	probably damaging	Het
Insc	G	A	7: 114,441,424 (GRCm39)	G413S	probably null	Het
Kcnd2	A	G	6: 21,216,707 (GRCm39)	Y137C	probably damaging	Het
Lhx6	A	T	2: 35,984,455 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,379,386 (GRCm39)	S109P	probably damaging	Het
Mroh1	T	C	15: 76,337,038 (GRCm39)	L1617P	probably damaging	Het
Or11g24	A	T	14: 50,662,080 (GRCm39)	I35F	probably benign	Het
Or1j17	A	T	2: 36,578,655 (GRCm39)	I214F	possibly damaging	Het
Or4d1	A	T	11: 87,805,072 (GRCm39)	V220D	possibly damaging	Het
Or52b3	G	T	7: 102,203,913 (GRCm39)	V141L	probably benign	Het
Prex2	T	C	1: 11,223,857 (GRCm39)	V727A	possibly damaging	Het
Ralgapb	A	G	2: 158,274,786 (GRCm39)	H229R	probably damaging	Het
Rusc2	G	A	4: 43,425,806 (GRCm39)	G1304S	probably benign	Het
Sbsn	A	G	7: 30,451,153 (GRCm39)	N56S	possibly damaging	Het
Skint8	T	A	4: 111,796,707 (GRCm39)		probably null	Het
Tasor2	A	T	13: 3,625,255 (GRCm39)	M1565K	possibly damaging	Het
Uso1	C	A	5: 92,328,477 (GRCm39)	S358*	probably null	Het

Other mutations in Iqch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Iqch	APN	9	63,387,936 (GRCm39)	missense	probably damaging	0.96
IGL01472:Iqch	APN	9	63,455,216 (GRCm39)	missense	probably benign	0.02
IGL01553:Iqch	APN	9	63,408,199 (GRCm39)	missense	probably benign	0.00
IGL01611:Iqch	APN	9	63,403,519 (GRCm39)	critical splice acceptor site	probably null
IGL02608:Iqch	APN	9	63,329,110 (GRCm39)	unclassified	probably benign
IGL03060:Iqch	APN	9	63,432,196 (GRCm39)	missense	probably damaging	1.00
museum	UTSW	9	63,432,421 (GRCm39)	nonsense	probably null
I2288:Iqch	UTSW	9	63,408,172 (GRCm39)	missense	probably benign	0.01
R0002:Iqch	UTSW	9	63,502,025 (GRCm39)	splice site	probably benign
R0350:Iqch	UTSW	9	63,408,158 (GRCm39)	missense	probably benign	0.43
R0532:Iqch	UTSW	9	63,415,514 (GRCm39)	splice site	probably benign
R0629:Iqch	UTSW	9	63,332,664 (GRCm39)	missense	probably benign	0.22
R0710:Iqch	UTSW	9	63,432,418 (GRCm39)	missense	probably benign
R0766:Iqch	UTSW	9	63,389,965 (GRCm39)	missense	probably benign	0.02
R1797:Iqch	UTSW	9	63,495,659 (GRCm39)	missense	possibly damaging	0.58
R1856:Iqch	UTSW	9	63,441,619 (GRCm39)	splice site	probably null
R1954:Iqch	UTSW	9	63,455,298 (GRCm39)	missense	probably benign	0.00
R1955:Iqch	UTSW	9	63,455,298 (GRCm39)	missense	probably benign	0.00
R2184:Iqch	UTSW	9	63,432,351 (GRCm39)	missense	probably damaging	0.99
R2264:Iqch	UTSW	9	63,419,581 (GRCm39)	missense	probably benign	0.27
R4614:Iqch	UTSW	9	63,389,863 (GRCm39)	missense	probably benign
R4643:Iqch	UTSW	9	63,502,084 (GRCm39)	missense	probably benign	0.00
R4654:Iqch	UTSW	9	63,432,195 (GRCm39)	missense	probably damaging	0.99
R4665:Iqch	UTSW	9	63,352,853 (GRCm39)	missense	probably damaging	1.00
R5027:Iqch	UTSW	9	63,432,294 (GRCm39)	missense	possibly damaging	0.87
R5042:Iqch	UTSW	9	63,403,516 (GRCm39)	missense	possibly damaging	0.48
R5551:Iqch	UTSW	9	63,403,535 (GRCm39)	splice site	probably null
R5829:Iqch	UTSW	9	63,332,639 (GRCm39)	critical splice donor site	probably null
R5878:Iqch	UTSW	9	63,455,272 (GRCm39)	missense	probably damaging	0.99
R6816:Iqch	UTSW	9	63,388,041 (GRCm39)	missense	probably benign	0.02
R6930:Iqch	UTSW	9	63,387,856 (GRCm39)	missense	possibly damaging	0.79
R7000:Iqch	UTSW	9	63,361,892 (GRCm39)	missense	probably benign
R7026:Iqch	UTSW	9	63,432,421 (GRCm39)	nonsense	probably null
R7066:Iqch	UTSW	9	63,432,027 (GRCm39)	missense	probably benign	0.24
R7111:Iqch	UTSW	9	63,419,599 (GRCm39)	missense	possibly damaging	0.79
R7129:Iqch	UTSW	9	63,329,191 (GRCm39)	missense	probably benign	0.09
R7177:Iqch	UTSW	9	63,329,117 (GRCm39)	makesense	probably null
R7252:Iqch	UTSW	9	63,419,518 (GRCm39)	critical splice donor site	probably null
R7485:Iqch	UTSW	9	63,415,599 (GRCm39)	missense	possibly damaging	0.47
R7541:Iqch	UTSW	9	63,352,803 (GRCm39)	missense	possibly damaging	0.95
R7805:Iqch	UTSW	9	63,329,002 (GRCm39)	splice site	probably null
R7973:Iqch	UTSW	9	63,432,228 (GRCm39)	missense	possibly damaging	0.79
R8113:Iqch	UTSW	9	63,361,855 (GRCm39)	missense	probably benign	0.00
R8170:Iqch	UTSW	9	63,336,312 (GRCm39)	missense	probably damaging	1.00
R8218:Iqch	UTSW	9	63,389,915 (GRCm39)	missense	possibly damaging	0.60
R8687:Iqch	UTSW	9	63,432,067 (GRCm39)	missense	probably damaging	1.00
R8811:Iqch	UTSW	9	63,452,195 (GRCm39)	missense	possibly damaging	0.92
R9020:Iqch	UTSW	9	63,432,526 (GRCm39)	missense	probably benign
R9194:Iqch	UTSW	9	63,479,961 (GRCm39)	missense	probably benign	0.00
R9232:Iqch	UTSW	9	63,329,200 (GRCm39)	missense	probably benign	0.00
R9532:Iqch	UTSW	9	63,389,935 (GRCm39)	missense
X0066:Iqch	UTSW	9	63,336,340 (GRCm39)	missense	probably damaging	0.98

Posted On

2016-08-02