Mutagenetix > Incidental Mutation

Incidental Mutation 'R8218:Iqch'

636486

Institutional Source

Beutler Lab

Gene Symbol

Iqch

Ensembl Gene

ENSMUSG00000037801

Gene Name

IQ motif containing H

Synonyms

4921504K03Rik

MMRRC Submission

067637-MU

Accession Numbers

Essential gene?

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

Stock #

R8218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63328737-63509775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63389915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 755 (V755I)

Ref Sequence

ENSEMBL: ENSMUSP00000047953 (fasta)

Gene Model

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

AlphaFold

Q9D2K4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042322
AA Change: V755I

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: V755I

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

SMART Domains

Protein: ENSMUSP00000079370
Gene: ENSMUSG00000037801

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: V755I

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: V755I

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: V755I

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: V755I

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: V716I

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: V716I

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

0.1712

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	G	A	15: 84,839,668 (GRCm39)	H191Y	probably damaging	Het
5730480H06Rik	T	A	5: 48,536,769 (GRCm39)	L155*	probably null	Het
Ackr4	T	C	9: 103,976,410 (GRCm39)	N179S	probably benign	Het
Acp5	T	C	9: 22,040,902 (GRCm39)	Y107C	probably damaging	Het
Aff4	A	T	11: 53,289,084 (GRCm39)	H411L	probably damaging	Het
Atp5pb	A	G	3: 105,866,502 (GRCm39)	M1T	probably null	Het
Atp8b5	G	A	4: 43,372,728 (GRCm39)		probably null	Het
C1qtnf2	A	G	11: 43,381,775 (GRCm39)	T166A	possibly damaging	Het
Dctn2	A	G	10: 127,112,398 (GRCm39)	D170G	probably damaging	Het
Dennd3	T	A	15: 73,384,622 (GRCm39)	S10T	probably benign	Het
Ehbp1	T	C	11: 22,046,096 (GRCm39)	Y551C	possibly damaging	Het
Eif4g2	A	T	7: 110,673,639 (GRCm39)	D743E	possibly damaging	Het
Esr1	G	A	10: 4,696,808 (GRCm39)		probably null	Het
Exo1	A	T	1: 175,728,480 (GRCm39)	I515L	probably benign	Het
Fam83h	C	T	15: 75,874,886 (GRCm39)	G817D	probably damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Garin1a	T	C	6: 29,286,072 (GRCm39)	I177T	probably damaging	Het
Gcn1	G	A	5: 115,719,588 (GRCm39)	S361N	probably benign	Het
Gm6337	C	T	14: 6,050,613 (GRCm38)		probably null	Het
Grk4	T	A	5: 34,826,540 (GRCm39)	S47T	probably benign	Het
Gstp2	C	A	19: 4,091,668 (GRCm39)	M20I	probably benign	Het
Harbi1	T	C	2: 91,543,237 (GRCm39)	F233L	probably benign	Het
Iws1	T	C	18: 32,226,688 (GRCm39)	F756L	probably benign	Het
Kcnh6	T	G	11: 105,908,200 (GRCm39)	V272G	possibly damaging	Het
Kcnj10	C	T	1: 172,196,539 (GRCm39)	R18C	probably damaging	Het
Kmt2c	A	C	5: 25,488,104 (GRCm39)	S4670A	probably damaging	Het
Krt80	T	G	15: 101,267,884 (GRCm39)	M18L	probably benign	Het
Lbx1	A	G	19: 45,223,359 (GRCm39)	V103A	probably benign	Het
Marchf8	A	T	6: 116,315,059 (GRCm39)		probably benign	Het
Muc16	T	A	9: 18,548,315 (GRCm39)	T5993S	possibly damaging	Het
Or10ag57	C	T	2: 87,218,922 (GRCm39)	T291I	probably damaging	Het
Or1j17	A	G	2: 36,578,685 (GRCm39)	T224A	probably benign	Het
Or1o4	A	G	17: 37,590,711 (GRCm39)	V200A	probably benign	Het
Or8k17	C	T	2: 86,066,862 (GRCm39)	V106M	probably benign	Het
Pbxip1	A	G	3: 89,352,902 (GRCm39)	I183V	probably benign	Het
Pcdh20	T	A	14: 88,706,047 (GRCm39)	I418F	probably damaging	Het
Pclo	T	C	5: 14,725,677 (GRCm39)	F1512L	unknown	Het
Phf2	G	T	13: 48,958,104 (GRCm39)	T970K	unknown	Het
Pidd1	A	G	7: 141,019,566 (GRCm39)	V698A	probably damaging	Het
Pik3ca	T	A	3: 32,491,996 (GRCm39)	V198D	possibly damaging	Het
Pip5k1c	T	A	10: 81,142,250 (GRCm39)	D153E	probably damaging	Het
Ppfia2	A	G	10: 106,699,236 (GRCm39)	D795G	probably benign	Het
Pramel12	A	T	4: 143,145,706 (GRCm39)	I392F	probably benign	Het
Prkar2a	C	A	9: 108,596,448 (GRCm39)	A131D	possibly damaging	Het
Pter	A	G	2: 12,985,366 (GRCm39)	D232G	probably damaging	Het
Qser1	C	T	2: 104,593,268 (GRCm39)	R1583Q	probably damaging	Het
Rasal2	A	C	1: 156,984,951 (GRCm39)	V932G	probably damaging	Het
Rasgrf2	G	A	13: 92,130,796 (GRCm39)	A154V		Het
Rbm4	A	G	19: 4,837,444 (GRCm39)	Y347H	probably damaging	Het
Rfxank	C	A	8: 70,584,085 (GRCm39)		probably null	Het
Robo1	C	G	16: 72,786,678 (GRCm39)	R897G	possibly damaging	Het
Sash1	G	A	10: 8,627,000 (GRCm39)	T364I	probably damaging	Het
Skint6	T	A	4: 112,696,471 (GRCm39)		probably null	Het
Slc22a4	T	A	11: 53,877,407 (GRCm39)	M495L	probably benign	Het
Slc39a8	G	A	3: 135,563,325 (GRCm39)	V212I	probably benign	Het
Slc40a1	A	C	1: 45,950,129 (GRCm39)	V441G	probably benign	Het
Slc7a11	A	T	3: 50,378,501 (GRCm39)	Y246N	probably damaging	Het
Spata9	T	C	13: 76,125,892 (GRCm39)	V125A	probably benign	Het
Svopl	T	A	6: 37,991,741 (GRCm39)	M380L	probably benign	Het
Sycp2l	T	C	13: 41,271,544 (GRCm39)	Y23H	probably damaging	Het
Syt11	A	T	3: 88,669,427 (GRCm39)	V155E	probably benign	Het
Syt5	T	C	7: 4,545,822 (GRCm39)	Y147C	probably damaging	Het
Thg1l	T	C	11: 45,846,277 (GRCm39)	T6A	probably benign	Het
Tlr2	A	G	3: 83,745,546 (GRCm39)	L179P	probably damaging	Het
Tsn	A	T	1: 118,232,984 (GRCm39)	Y107N	probably damaging	Het
Tspan32	A	T	7: 142,564,832 (GRCm39)	Y114F	probably benign	Het
Tube1	A	C	10: 39,023,375 (GRCm39)	S341R	possibly damaging	Het
Ubn2	T	A	6: 38,466,214 (GRCm39)	V516D	probably benign	Het
Vmn1r21	G	T	6: 57,820,910 (GRCm39)	T178K	noncoding transcript	Het
Vmn2r108	A	G	17: 20,683,465 (GRCm39)	Y580H	probably damaging	Het
Wdr75	T	A	1: 45,857,342 (GRCm39)	F546L	probably damaging	Het
Yy1	A	G	12: 108,759,619 (GRCm39)	D94G	probably benign	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	probably benign	Het
Zfy2	T	C	Y: 2,133,421 (GRCm39)	T9A	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- GCAAAGATCTAGGCAGTGCTTG -3'
(R):5'- GCTCTGGGTAAACAGTAACCAC -3'

Sequencing Primer
(F):5'- GAAGCAGTTTCTACACCAACATTGG -3'
(R):5'- GGCCTGGTTTTTAATCACTC -3'

Posted On

2020-07-13