Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01553:Iqch'

90626

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 #

IGL01553

Quality Score

Status

Chromosome

Chromosomal Location

63328737-63509775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63408199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 655 (N655S)

Ref Sequence

ENSEMBL: ENSMUSP00000079370 (fasta)

Gene Model

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

AlphaFold

Q9D2K4

Predicted Effect

probably benign
Transcript: ENSMUST00000042322
AA Change: N655S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: N655S

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
AA Change: N655S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000079370
Gene: ENSMUSG00000037801
AA Change: N655S

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: N655S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: N655S

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: N655S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: N655S

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: N616S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: N616S

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

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
Akr1c13	T	A	13: 4,244,774 (GRCm39)	H117Q	probably damaging	Het
Arhgap44	T	C	11: 64,943,944 (GRCm39)	N188S	probably damaging	Het
Bach1	T	A	16: 87,519,393 (GRCm39)	I561N	probably damaging	Het
Bsph2	G	T	7: 13,290,645 (GRCm39)	T78K	probably damaging	Het
Ccdc178	A	G	18: 22,048,063 (GRCm39)	Y776H	probably damaging	Het
Ccdc7a	T	C	8: 129,753,072 (GRCm39)		probably benign	Het
Cenpp	C	T	13: 49,618,252 (GRCm39)	V218M	probably damaging	Het
Dnmt3l	A	G	10: 77,899,082 (GRCm39)	S94G	probably benign	Het
Dock7	A	T	4: 98,833,803 (GRCm39)	Y1839*	probably null	Het
Gabra6	T	A	11: 42,206,023 (GRCm39)	T278S	probably damaging	Het
Galnt11	G	A	5: 25,452,718 (GRCm39)	D77N	probably benign	Het
Gm17175	T	C	14: 51,808,279 (GRCm39)	D171G	probably benign	Het
Kdm1b	T	A	13: 47,234,024 (GRCm39)	I786N	probably damaging	Het
Macf1	G	A	4: 123,386,956 (GRCm39)	Q976*	probably null	Het
Mbtd1	T	A	11: 93,814,040 (GRCm39)	C228S	probably benign	Het
Myo10	T	C	15: 25,776,415 (GRCm39)	L46P	probably damaging	Het
Niban3	G	T	8: 72,055,546 (GRCm39)	A319S	possibly damaging	Het
Nup133	A	G	8: 124,642,063 (GRCm39)	V800A	possibly damaging	Het
Or5h23	G	T	16: 58,906,685 (GRCm39)	H54N	probably benign	Het
Prkca	C	T	11: 107,948,660 (GRCm39)	G110R	probably benign	Het
Samd9l	A	T	6: 3,375,566 (GRCm39)	M565K	probably damaging	Het
Scgn	T	C	13: 24,143,662 (GRCm39)	Q77R	probably benign	Het
Serpinb6b	T	C	13: 33,158,931 (GRCm39)	L44P	probably damaging	Het
Tfrc	T	C	16: 32,447,403 (GRCm39)	V673A	probably benign	Het
Tsfm	G	A	10: 126,864,259 (GRCm39)	T152M	probably benign	Het
Wdfy3	A	T	5: 102,047,897 (GRCm39)	C1803S	probably benign	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
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
IGL03154:Iqch	APN	9	63,361,964 (GRCm39)	missense	probably damaging	0.97
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

2013-12-09