Mutagenetix > Incidental Mutations

Incidental Mutation 'R5878:Iqch'

455662

Institutional Source

Beutler Lab

Gene Symbol

Iqch

Ensembl Gene

ENSMUSG00000037801

Gene Name

IQ motif containing H

Synonyms

4921504K03Rik

MMRRC Submission

044084-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5878 (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 63547990 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 175 (S175F)

Ref Sequence

ENSEMBL: ENSMUSP00000079370 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042322
AA Change: S175F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: S175F

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: ENSMUST00000080527
AA Change: S175F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079370
Gene: ENSMUSG00000037801
AA Change: S175F

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 damaging
Transcript: ENSMUST00000163624
AA Change: S175F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: S175F

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: S175F

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: S175F

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: ENSMUST00000168682

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171243
AA Change: S136F

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: S136F

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

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,692,960	S387T	probably benign	Het
Abca12	A	T	1: 71,346,633	N275K	possibly damaging	Het
Abhd6	G	A	14: 8,028,286	V6I	probably benign	Het
Afap1l2	T	C	19: 56,915,675	T727A	probably benign	Het
Aggf1	T	C	13: 95,369,557	E174G	probably benign	Het
Ahnak	T	G	19: 9,008,342	L2330R	probably damaging	Het
Arfgef2	A	G	2: 166,870,217	T1205A	probably benign	Het
Ccdc3	T	C	2: 5,229,016	L217P	probably benign	Het
Cfap54	T	C	10: 92,964,561	D1595G	probably benign	Het
Cps1	G	T	1: 67,157,878		probably null	Het
Fam120b	A	G	17: 15,402,240	D160G	probably damaging	Het
Fam172a	T	A	13: 77,952,067	V129E	probably damaging	Het
Fezf1	C	A	6: 23,247,581	R165L	possibly damaging	Het
Fkbp15	A	T	4: 62,306,908	L838H	probably benign	Het
Frmd3	G	A	4: 74,153,610	G243D	probably damaging	Het
Gldc	A	T	19: 30,143,467		probably null	Het
Gm10188	T	C	1: 132,229,202		probably benign	Het
Gm5190	T	A	12: 113,397,239		noncoding transcript	Het
Gria1	T	C	11: 57,317,802		probably null	Het
Hdhd5	A	G	6: 120,514,524	L206P	probably damaging	Het
Herc2	A	G	7: 56,124,248	N1149S	probably benign	Het
Inca1	G	A	11: 70,695,982		probably benign	Het
Itpr3	T	G	17: 27,110,862	D1543E	probably benign	Het
Khk	T	A	5: 30,930,875		probably null	Het
Kiz	C	T	2: 146,889,601	S337L	probably damaging	Het
Lzts3	G	A	2: 130,636,539	T213I	probably damaging	Het
Mab21l2	T	A	3: 86,546,718	D325V	probably damaging	Het
Mctp2	A	G	7: 72,214,108	S336P	probably benign	Het
Me3	T	A	7: 89,848,006	L405Q	probably benign	Het
Mgst2	A	T	3: 51,661,230		probably benign	Het
Myh2	A	G	11: 67,192,504	E1431G	probably damaging	Het
Naip6	A	G	13: 100,299,673	S781P	probably damaging	Het
Nr3c2	A	G	8: 76,908,268		probably null	Het
Olfr509	A	T	7: 108,645,739	L279Q	probably damaging	Het
Olfr750	A	G	14: 51,070,992	Y134H	probably damaging	Het
Olfr986	C	T	9: 40,187,571	T152I	probably benign	Het
Otop1	G	T	5: 38,277,822	R132L	possibly damaging	Het
Parg	T	A	14: 32,217,662	D548E	possibly damaging	Het
Pcdhga4	G	T	18: 37,687,686	G763W	probably benign	Het
Pde10a	A	G	17: 8,949,372	N9S	possibly damaging	Het
Pi4k2a	T	C	19: 42,100,641	I147T	probably benign	Het
Polh	T	A	17: 46,194,325	T122S	probably damaging	Het
Ptpn13	T	C	5: 103,477,118	V96A	possibly damaging	Het
Ptpn6	C	A	6: 124,728,785	C132F	probably damaging	Het
Rbm19	T	A	5: 120,132,867	V585E	probably damaging	Het
Rp1l1	C	T	14: 64,028,906	P647L	probably benign	Het
Rrp1b	A	G	17: 32,047,675	E72G	probably damaging	Het
Shcbp1	A	T	8: 4,748,742	H392Q	probably benign	Het
Skiv2l	C	T	17: 34,846,117	R371Q	possibly damaging	Het
Slc13a5	G	A	11: 72,253,391	T287I	possibly damaging	Het
Slc22a27	T	A	19: 7,926,757	E5V	probably benign	Het
Slc38a2	A	G	15: 96,692,584	V293A	probably damaging	Het
Slco6d1	T	A	1: 98,463,836		probably benign	Het
Sri	G	C	5: 8,059,353	D46H	probably damaging	Het
Tango6	A	G	8: 106,689,168	D207G	possibly damaging	Het
Tigd4	T	C	3: 84,594,442	M222T	probably benign	Het
Tmem229a	T	C	6: 24,955,173	D194G	probably benign	Het
Trank1	T	C	9: 111,366,685	V1259A	possibly damaging	Het
Trdv5	T	C	14: 54,148,798	D70G	probably benign	Het
Trim52	T	A	14: 106,106,941	M11K	probably damaging	Het
Wdr62	A	G	7: 30,241,347	M882T	probably benign	Het
Ybx3	A	G	6: 131,367,763		probably null	Het
Zfand2b	A	G	1: 75,170,510		probably benign	Het
Zfp91	T	A	19: 12,770,320	T480S	possibly 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
museum	UTSW	9	63525139	nonsense	probably null
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
R0766:Iqch	UTSW	9	63482683	missense	probably benign	0.02
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	splice site	probably null
R5829:Iqch	UTSW	9	63425357	critical splice donor site	probably null
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
R7805:Iqch	UTSW	9	63421720	splice site	probably null
R7973:Iqch	UTSW	9	63524946	missense	possibly damaging	0.79
R8113:Iqch	UTSW	9	63454573	missense	probably benign	0.00
R8170:Iqch	UTSW	9	63429030	missense	probably damaging	1.00
R8218:Iqch	UTSW	9	63482633	missense	possibly damaging	0.60
X0066:Iqch	UTSW	9	63429058	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCAGAAGCCCATCAGAAAGTACTTAG -3'
(R):5'- TAGCATAGGGTACTCAGGAGC -3'

Sequencing Primer
(F):5'- AGGACCTGACTTATCTGAGGTCAC -3'
(R):5'- GGGTACTCAGGAGCAATAAAATTAG -3'

Posted On

2017-02-10