Mutagenetix > Incidental Mutations

Incidental Mutation 'R7129:Iqch'

552528

Institutional Source

Beutler Lab

Gene Symbol

Iqch

Ensembl Gene

ENSMUSG00000037801

Gene Name

IQ motif containing H

Synonyms

4921504K03Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63421455-63602493 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63421909 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1048 (V1048I)

Ref Sequence

ENSEMBL: ENSMUSP00000047953 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000042322
AA Change: V1048I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: V1048I

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

unknown
Transcript: ENSMUST00000080527
AA Change: V814I

SMART Domains

Protein: ENSMUSP00000079370
Gene: ENSMUSG00000037801
AA Change: V814I

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: ENSMUST00000163624
AA Change: V1007I

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: V1007I

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: V1019I

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: V1019I

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: V1009I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: V1009I

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 72,455,355	E443G	probably damaging	Het
2700049A03Rik	A	G	12: 71,216,230		probably null	Het
3110082I17Rik	A	G	5: 139,363,983	Y104H	probably damaging	Het
Abcg4	T	C	9: 44,279,384	K282E	probably benign	Het
Adamts17	T	C	7: 67,121,010	S956P	probably damaging	Het
Adh1	T	C	3: 138,280,474	V74A	probably damaging	Het
Akt1	A	T	12: 112,659,649	M63K	probably benign	Het
Arfrp1	G	A	2: 181,359,551	R177*	probably null	Het
Arl11	A	G	14: 61,310,897	E52G	possibly damaging	Het
BC051019	T	C	7: 109,720,618	S10G		Het
Bfsp2	T	A	9: 103,479,919	E103V	probably damaging	Het
Bms1	G	T	6: 118,403,161	C728*	probably null	Het
Cachd1	T	G	4: 100,918,066	N159K	probably null	Het
Cd38	A	G	5: 43,910,309	N294S	probably benign	Het
Cfap54	T	C	10: 93,016,571	N891S	probably benign	Het
Chsy3	A	T	18: 59,410,298	H836L	probably damaging	Het
Cldn16	A	T	16: 26,482,638	D232V	probably damaging	Het
Dhx33	A	T	11: 70,993,863	I425N	probably damaging	Het
Dock4	A	G	12: 40,828,879	N1506D	probably damaging	Het
Dok7	T	C	5: 35,079,048	S227P	probably damaging	Het
Elf2	T	C	3: 51,261,011	R201G	probably damaging	Het
Etaa1	T	C	11: 17,940,339	R841G	possibly damaging	Het
Exoc4	T	C	6: 33,971,999	Y926H	probably damaging	Het
Fras1	A	G	5: 96,781,284	H3849R	probably benign	Het
Hapln3	C	T	7: 79,121,824	G106R	probably damaging	Het
Hmcn1	A	C	1: 150,577,210		probably null	Het
Ifitm7	A	T	16: 13,983,736	I53N	possibly damaging	Het
Ikbkap	T	C	4: 56,787,944	H329R	probably damaging	Het
Il6ra	T	C	3: 89,871,247	N433D	probably damaging	Het
Kif20a	A	G	18: 34,632,535	T862A	probably benign	Het
Mcrs1	G	A	15: 99,248,728	L141F	probably damaging	Het
Nkx3-2	A	G	5: 41,761,674	S324P	probably damaging	Het
Nmi	A	T	2: 51,955,924		probably null	Het
Nufip1	A	G	14: 76,134,885	K480E	possibly damaging	Het
Oit3	T	A	10: 59,428,344	I323F	probably damaging	Het
Olfr1450	A	T	19: 12,954,114	H175L	possibly damaging	Het
Olfr699	T	C	7: 106,790,483	K173E	probably benign	Het
Pcdha11	A	G	18: 37,007,238	E640G	probably benign	Het
Phip	C	T	9: 82,877,300	V1366I	probably damaging	Het
Plin5	T	C	17: 56,115,174	M162V	probably null	Het
Podxl2	A	G	6: 88,843,505		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Rab4a	A	T	8: 123,827,330	D40V	probably benign	Het
Scn7a	A	G	2: 66,700,193	F603L	probably benign	Het
Slfn5	A	T	11: 82,961,150	K701*	probably null	Het
Speer4f2	A	G	5: 17,377,448	D223G		Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Tas2r117	A	T	6: 132,803,387	T163S	probably benign	Het
Tecta	T	C	9: 42,347,991	D1532G	probably damaging	Het
Tmem63a	T	C	1: 180,954,876	I146T	probably damaging	Het
Ttn	C	A	2: 76,816,171	G12844W	probably damaging	Het
Usp22	T	C	11: 61,162,949	I190V	probably damaging	Het
Usp24	T	C	4: 106,362,215	I536T	probably damaging	Het
Vmn1r23	A	G	6: 57,926,076	V239A	possibly damaging	Het
Vmn1r9	A	C	6: 57,071,626	T229P	probably damaging	Het
Zbtb21	AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	16: 97,951,687		probably benign	Het
Zbtb8a	G	C	4: 129,360,395	A102G	probably damaging	Het
Zfp51	T	C	17: 21,461,709	W57R	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
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
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'- GGGGTTCTTAGCATTCACACC -3'
(R):5'- GTAAATTCTTTCAGCCTACTAGCCC -3'

Sequencing Primer
(F):5'- GGGTTCTTAGCATTCACACCGAAAAC -3'
(R):5'- CAAGTCTAACAACCAGTGATGTATGG -3'

Posted On

2019-05-15