Mutagenetix > Incidental Mutations

Incidental Mutation 'R2184:Iqch'

237362

Institutional Source

Beutler Lab

Gene Symbol

Iqch

Ensembl Gene

ENSMUSG00000037801

Gene Name

IQ motif containing H

Synonyms

4921504K03Rik

MMRRC Submission

040186-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R2184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63421455-63602493 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63525069 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 348 (D348V)

Ref Sequence

ENSEMBL: ENSMUSP00000128482 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042322
AA Change: D348V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: D348V

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: D348V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079370
Gene: ENSMUSG00000037801
AA Change: D348V

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: D348V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: D348V

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: D348V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: D348V

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: D309V

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: D309V

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,135,189	R184G	probably damaging	Het
2300002M23Rik	C	A	17: 35,568,218	A151E	probably benign	Het
A930011G23Rik	C	T	5: 99,232,369	R339Q	possibly damaging	Het
Abcd2	T	C	15: 91,191,439	Y57C	probably benign	Het
Adprhl1	A	G	8: 13,242,559	V244A	probably benign	Het
Agl	T	C	3: 116,780,777	N753D	probably benign	Het
Amotl1	T	A	9: 14,575,390	M440L	probably benign	Het
Angpt2	A	G	8: 18,692,116	Y475H	probably benign	Het
Angpt4	A	T	2: 151,938,954	H374L	probably damaging	Het
Ank1	A	T	8: 23,109,254	T801S	probably damaging	Het
Ap5m1	G	T	14: 49,086,295	A481S	probably damaging	Het
AY358078	G	T	14: 51,825,988	G364W	probably damaging	Het
C4b	C	A	17: 34,737,702	A641S	probably benign	Het
Capn13	T	C	17: 73,365,948	Y120C	probably damaging	Het
Cbx6	T	C	15: 79,828,561	T222A	probably benign	Het
Cckar	T	C	5: 53,702,912	T192A	probably damaging	Het
Cdc42bpb	T	C	12: 111,296,044	D30G	probably damaging	Het
Cdk18	A	G	1: 132,115,952	Y385H	probably damaging	Het
Cep170	A	T	1: 176,756,976	D612E	probably benign	Het
Dennd4b	G	T	3: 90,275,540	R888L	probably damaging	Het
Egf	A	T	3: 129,723,358	C373*	probably null	Het
Fam208a	T	A	14: 27,466,184	N862K	possibly damaging	Het
Gabrb2	T	C	11: 42,421,428		probably null	Het
Gle1	G	T	2: 29,949,018	A482S	probably damaging	Het
Gm10644	T	C	8: 83,933,627	T30A	possibly damaging	Het
Gmnn	A	G	13: 24,753,723	Y95H	probably damaging	Het
Hectd3	T	A	4: 117,000,903	S643T	possibly damaging	Het
Hoga1	A	G	19: 42,061,391	Y225C	probably damaging	Het
Hook3	T	C	8: 26,118,983	E11G	probably benign	Het
Hsd17b1	C	A	11: 101,078,531	S30R	probably benign	Het
Htr3b	G	A	9: 48,947,244	P112S	probably damaging	Het
Irgm2	A	T	11: 58,220,428	N327I	probably benign	Het
Itgb4	T	C	11: 115,979,624	I93T	probably damaging	Het
Lamb2	T	C	9: 108,480,553	F92L	probably damaging	Het
Lats2	T	C	14: 57,691,559	H953R	probably damaging	Het
Lrp1b	T	C	2: 40,730,702	E3588G	probably benign	Het
March1	A	G	8: 66,387,423	E286G	probably benign	Het
Mc2r	G	T	18: 68,408,125	F32L	probably benign	Het
Mink1	C	T	11: 70,603,797	T268M	probably damaging	Het
Mta1	G	A	12: 113,130,195		probably null	Het
Muc5b	C	A	7: 141,858,864	S1849*	probably null	Het
Myh15	A	G	16: 49,137,511	E897G	probably damaging	Het
Nobox	T	C	6: 43,304,885	Q418R	possibly damaging	Het
Obsl1	G	T	1: 75,502,217	Q626K	probably benign	Het
Olfr1058	G	A	2: 86,386,145	T91I	probably benign	Het
Olfr1137	G	A	2: 87,711,205	R234C	probably damaging	Het
Olfr1502	A	G	19: 13,862,035	I81V	probably benign	Het
Olfr225	T	A	11: 59,613,138	M58K	probably damaging	Het
Olfr340	A	G	2: 36,453,034	T150A	probably benign	Het
Olfr538	T	C	7: 140,574,402	V83A	probably benign	Het
Olfr749	A	G	14: 50,736,602	S187P	probably damaging	Het
Pald1	C	T	10: 61,347,136	A345T	possibly damaging	Het
Pde8b	G	A	13: 95,026,215	P800S	probably damaging	Het
Pgm2l1	G	A	7: 100,268,155	C493Y	possibly damaging	Het
Pias3	A	G	3: 96,702,221	S311G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,499,296	N573D	possibly damaging	Het
Pla2g16	A	G	19: 7,579,218	D128G	probably damaging	Het
Plxnc1	T	G	10: 94,944,269	S104R	probably damaging	Het
Pofut2	T	A	10: 77,267,225	F179I	probably damaging	Het
Prkcsh	T	A	9: 22,004,732	C112S	probably damaging	Het
Prss32	G	A	17: 23,859,323	A328T	probably benign	Het
Ptgir	G	T	7: 16,908,783	R103L	probably damaging	Het
Ptpn5	G	A	7: 47,088,602	S244F	probably damaging	Het
Rnpepl1	G	A	1: 92,916,823	V346I	probably benign	Het
Sh3rf1	T	A	8: 61,372,654	V561D	probably damaging	Het
Slc22a19	A	T	19: 7,709,661	Y160N	probably benign	Het
Sorbs3	A	G	14: 70,191,431		probably null	Het
Sostdc1	T	G	12: 36,317,296	I157S	probably damaging	Het
Svil	G	T	18: 5,099,534	R1777L	probably damaging	Het
Svil	A	T	18: 5,099,615	E1804V	probably damaging	Het
Thbs4	A	G	13: 92,774,794	S294P	probably benign	Het
Tle2	A	G	10: 81,590,277	Y750C	probably damaging	Het
Tmcc3	T	C	10: 94,582,306	L312P	probably damaging	Het
Tnip2	TCTCCT	TCT	5: 34,499,613		probably benign	Het
Tnpo2	T	A	8: 85,053,846	M734K	probably benign	Het
Trmt2a	A	T	16: 18,252,995	R531W	probably benign	Het
Ubn2	C	T	6: 38,484,094	R483W	probably damaging	Het
Zc3hav1	T	A	6: 38,307,408	Y924F	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
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
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'- TTTTCCACGTGGCTTGGATC -3'
(R):5'- TTTCCTCAGGGCATGAAGATTAG -3'

Sequencing Primer
(F):5'- CTTGGATCTTGGTGGCAGCTTC -3'
(R):5'- TTAGGACACCGTCTAAGACTAGG -3'

Posted On

2014-10-02