Mutagenetix > Incidental Mutation

Incidental Mutation 'R8687:Iqch'

662089

Institutional Source

Beutler Lab

Gene Symbol

Iqch

Ensembl Gene

ENSMUSG00000037801

Gene Name

IQ motif containing H

Synonyms

4921504K03Rik

MMRRC Submission

068542-MU

Accession Numbers

Essential gene?

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

Stock #

R8687 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63328737-63509775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63432067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 443 (W443R)

Ref Sequence

ENSEMBL: ENSMUSP00000047953 (fasta)

Gene Model

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

AlphaFold

Q9D2K4

Predicted Effect

probably damaging
Transcript: ENSMUST00000042322
AA Change: W443R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: W443R

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: W443R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079370
Gene: ENSMUSG00000037801
AA Change: W443R

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: ENSMUST00000163624
AA Change: W443R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: W443R

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: ENSMUST00000163982
AA Change: W443R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: W443R

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: W404R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: W404R

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

Meta Mutation Damage Score

0.7609

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

92% (22/24)

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap45	C	T	10: 79,852,621 (GRCm39)		probably benign	Het
B3galt4	A	G	17: 34,169,819 (GRCm39)	S140P	probably damaging	Het
Cog6	C	T	3: 52,892,338 (GRCm39)	V624I	probably benign	Het
Cysrt1	A	G	2: 25,129,399 (GRCm39)	S38P	possibly damaging	Het
Eme2	C	T	17: 25,113,813 (GRCm39)	V71M	possibly damaging	Het
Eva1c	C	A	16: 90,687,433 (GRCm39)	T223K	probably benign	Het
Gm3633	A	T	14: 42,462,648 (GRCm39)	L81H		Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Itgb1	T	C	8: 129,442,697 (GRCm39)	V294A	probably damaging	Het
Kif1b	T	A	4: 149,345,620 (GRCm39)	K407*	probably null	Het
Kyat1	A	G	2: 30,075,759 (GRCm39)	S377P	probably benign	Het
Mical3	A	G	6: 120,936,438 (GRCm39)	S1363P	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Naip6	T	A	13: 100,435,636 (GRCm39)	R962S	probably benign	Het
Pnma8a	T	G	7: 16,694,520 (GRCm39)	V125G	probably damaging	Het
Ptpdc1	G	A	13: 48,740,136 (GRCm39)	P432S	possibly damaging	Het
Rhobtb2	G	A	14: 70,038,104 (GRCm39)	T52I	probably damaging	Het
Slco1a8	C	T	6: 141,939,991 (GRCm39)	G171S	probably damaging	Het
Spop	G	A	11: 95,361,337 (GRCm39)		probably benign	Het
Stam	TGCTGCTGCTGCTGCCGCTGCTGCTGCTG	TGCTGCTGCTGCTG	2: 14,151,096 (GRCm39)		probably benign	Het
Stam	CCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG	CCTGCCGCTGCTGCTGCTG	2: 14,151,091 (GRCm39)		probably benign	Het
Tmem102	T	C	11: 69,695,441 (GRCm39)	H177R	probably benign	Het
Trpc4ap	T	C	2: 155,477,170 (GRCm39)	T748A	possibly damaging	Het
Ttc27	T	A	17: 75,046,679 (GRCm39)	Y247N	probably benign	Het
Ttc39a	T	C	4: 109,288,776 (GRCm39)	I292T	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGGCTCTGAGTTTGTGTATC -3'
(R):5'- CCAGTTCACATTCAGATGCTG -3'

Sequencing Primer
(F):5'- CAGGCTCTGAGTTTGTGTATCATATC -3'
(R):5'- TGTTAAACCTTCCGGGACAG -3'

Posted On

2021-03-08