Mutagenetix > Incidental Mutation

Incidental Mutation 'R5063:Iqcm'

386755

Institutional Source

Beutler Lab

Gene Symbol

Iqcm

Ensembl Gene

ENSMUSG00000031620

Gene Name

IQ motif containing M

Synonyms

1700007B14Rik

MMRRC Submission

042653-MU

Accession Numbers

Essential gene?

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

Stock #

R5063 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76175322-76711131 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76472914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 251 (D251V)

Ref Sequence

ENSEMBL: ENSMUSP00000148495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034033] [ENSMUST00000121983] [ENSMUST00000212704]

AlphaFold

Q149I8

Predicted Effect

probably damaging
Transcript: ENSMUST00000034033
AA Change: D251V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034033
Gene: ENSMUSG00000031620
AA Change: D251V

Domain	Start	End	E-Value	Type
IQ	281	303	2.54e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121983
AA Change: D251V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112901
Gene: ENSMUSG00000031620
AA Change: D251V

Domain	Start	End	E-Value	Type
IQ	281	303	2.54e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000212704
AA Change: D251V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,901,315 (GRCm39)	H970R	probably benign	Het
Anapc1	T	C	2: 128,471,469 (GRCm39)	M1496V	possibly damaging	Het
Arhgef4	A	T	1: 34,763,296 (GRCm39)	T851S	probably benign	Het
Armh3	A	G	19: 45,874,394 (GRCm39)	I593T	possibly damaging	Het
Cacna1d	A	G	14: 29,773,340 (GRCm39)	S1782P	probably benign	Het
Capn13	T	A	17: 73,629,074 (GRCm39)	R578*	probably null	Het
Casp8	A	T	1: 58,883,533 (GRCm39)	H280L	probably damaging	Het
Cd274	G	T	19: 29,361,543 (GRCm39)	D284Y	probably damaging	Het
Cenpe	T	A	3: 134,976,715 (GRCm39)	C2441S	probably damaging	Het
Chn2	A	T	6: 54,267,272 (GRCm39)	K118*	probably null	Het
Chst12	G	T	5: 140,510,167 (GRCm39)	E265*	probably null	Het
Cp	C	A	3: 20,043,379 (GRCm39)	Q22K	probably benign	Het
Diaph3	A	T	14: 87,222,306 (GRCm39)	W404R	probably damaging	Het
Dnajb13	T	G	7: 100,160,030 (GRCm39)	E69A	probably damaging	Het
Dzip1l	A	G	9: 99,549,705 (GRCm39)	E725G	probably damaging	Het
Dzip3	T	A	16: 48,774,117 (GRCm39)	K373*	probably null	Het
Fmn1	C	T	2: 113,195,266 (GRCm39)	T322I	unknown	Het
Gbp9	T	C	5: 105,233,028 (GRCm39)	Y208C	probably benign	Het
Gtf2i	T	A	5: 134,289,425 (GRCm39)	K418N	probably damaging	Het
Herc3	C	T	6: 58,832,745 (GRCm39)	Q137*	probably null	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Itpr3	A	T	17: 27,308,885 (GRCm39)	I363F	possibly damaging	Het
Khnyn	A	T	14: 56,124,660 (GRCm39)	K305*	probably null	Het
Klf17	A	G	4: 117,617,856 (GRCm39)	V167A	possibly damaging	Het
Letm2	T	C	8: 26,071,795 (GRCm39)	D369G	probably benign	Het
Lrrc31	A	G	3: 30,744,085 (GRCm39)	V141A	possibly damaging	Het
Msh5	A	T	17: 35,261,164 (GRCm39)		probably null	Het
Neb	G	A	2: 52,113,224 (GRCm39)		probably benign	Het
Or10j5	T	A	1: 172,785,009 (GRCm39)	S216T	possibly damaging	Het
Or2t6	A	T	14: 14,175,593 (GRCm38)	M163K	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Padi6	T	C	4: 140,469,191 (GRCm39)	I50V	probably benign	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Ppy	A	G	11: 101,991,525 (GRCm39)	Y5H	probably benign	Het
Psmc1	T	C	12: 100,081,734 (GRCm39)	L112S	probably damaging	Het
Ptov1	A	G	7: 44,515,026 (GRCm39)	I195T	possibly damaging	Het
Rassf10	C	A	7: 112,553,631 (GRCm39)	D77E	probably benign	Het
Slc25a45	T	C	19: 5,934,490 (GRCm39)	S153P	possibly damaging	Het
Slco1a5	G	A	6: 142,204,791 (GRCm39)	R126C	probably damaging	Het
Srebf2	T	C	15: 82,061,652 (GRCm39)	V366A	probably benign	Het
St6galnac5	T	C	3: 152,686,772 (GRCm39)	S61G	probably benign	Het
Sult6b1	A	T	17: 79,213,005 (GRCm39)	V82D	probably benign	Het
Tep1	A	T	14: 51,088,084 (GRCm39)	C818S	possibly damaging	Het
Tex15	T	G	8: 34,072,638 (GRCm39)	F2728L	possibly damaging	Het
Tm9sf2	T	A	14: 122,382,558 (GRCm39)	F190Y	probably damaging	Het
Tmem175	T	C	5: 108,794,298 (GRCm39)	L476P	probably damaging	Het
Tmprss11c	T	C	5: 86,385,689 (GRCm39)	K248R	probably benign	Het
Tnk2	T	A	16: 32,489,668 (GRCm39)	F316I	probably damaging	Het
Vmn2r75	T	A	7: 85,813,372 (GRCm39)	M477L	probably benign	Het
Vmn2r83	A	C	10: 79,314,921 (GRCm39)	I390L	probably benign	Het
Vmn2r88	A	G	14: 51,648,603 (GRCm39)	Y49C	probably damaging	Het
Zdhhc4	T	A	5: 143,302,377 (GRCm39)	I318F	probably damaging	Het
Zmat4	A	T	8: 24,238,457 (GRCm39)	D27V	probably damaging	Het

Other mutations in Iqcm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01895:Iqcm	APN	8	76,615,188 (GRCm39)	missense	probably damaging	1.00
IGL02835:Iqcm	APN	8	76,281,511 (GRCm39)	utr 5 prime	probably benign
R0056:Iqcm	UTSW	8	76,480,014 (GRCm39)	missense	probably benign
R2146:Iqcm	UTSW	8	76,615,241 (GRCm39)	missense	probably damaging	1.00
R2910:Iqcm	UTSW	8	76,441,404 (GRCm39)	missense	probably benign
R3801:Iqcm	UTSW	8	76,396,021 (GRCm39)	missense	possibly damaging	0.59
R3804:Iqcm	UTSW	8	76,396,021 (GRCm39)	missense	possibly damaging	0.59
R3834:Iqcm	UTSW	8	76,304,380 (GRCm39)	missense	possibly damaging	0.93
R3897:Iqcm	UTSW	8	76,480,028 (GRCm39)	missense	probably damaging	1.00
R4447:Iqcm	UTSW	8	76,356,394 (GRCm39)	missense	probably damaging	0.97
R4448:Iqcm	UTSW	8	76,356,394 (GRCm39)	missense	probably damaging	0.97
R4450:Iqcm	UTSW	8	76,356,394 (GRCm39)	missense	probably damaging	0.97
R4687:Iqcm	UTSW	8	76,489,617 (GRCm39)	missense	probably damaging	1.00
R4810:Iqcm	UTSW	8	76,615,281 (GRCm39)	missense	probably damaging	1.00
R4845:Iqcm	UTSW	8	76,472,980 (GRCm39)	missense	probably damaging	0.99
R4856:Iqcm	UTSW	8	76,615,228 (GRCm39)	missense	possibly damaging	0.95
R4886:Iqcm	UTSW	8	76,615,228 (GRCm39)	missense	possibly damaging	0.95
R5460:Iqcm	UTSW	8	76,441,417 (GRCm39)	missense	probably benign
R6403:Iqcm	UTSW	8	76,304,624 (GRCm39)	critical splice donor site	probably null
R6667:Iqcm	UTSW	8	76,479,980 (GRCm39)	missense	probably damaging	1.00
R7187:Iqcm	UTSW	8	76,480,044 (GRCm39)	missense	probably benign	0.22
R7263:Iqcm	UTSW	8	76,489,701 (GRCm39)	missense	probably benign
R7701:Iqcm	UTSW	8	76,281,539 (GRCm39)	missense	probably benign	0.02
R7916:Iqcm	UTSW	8	76,304,578 (GRCm39)	missense	probably benign
R7938:Iqcm	UTSW	8	76,304,596 (GRCm39)	missense	probably benign
R7974:Iqcm	UTSW	8	76,281,520 (GRCm39)	start codon destroyed	probably null	0.66
R8039:Iqcm	UTSW	8	76,489,733 (GRCm39)	missense	probably damaging	1.00
R8311:Iqcm	UTSW	8	76,480,118 (GRCm39)	splice site	probably benign
R8703:Iqcm	UTSW	8	76,615,271 (GRCm39)	missense	probably damaging	1.00
R9175:Iqcm	UTSW	8	76,710,867 (GRCm39)	missense	possibly damaging	0.84
R9475:Iqcm	UTSW	8	76,480,083 (GRCm39)	missense	probably damaging	1.00
RF002:Iqcm	UTSW	8	76,304,527 (GRCm39)	missense	probably benign	0.01
X0018:Iqcm	UTSW	8	76,710,840 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTCCTAGTACATTTCTTGTTTCAGT -3'
(R):5'- ACCTTGCTCTTTATTCGTTGAAGT -3'

Sequencing Primer
(F):5'- GGCTCGAGGTTCATGAATTCAATACC -3'
(R):5'- GAAGTCTTTTGCGCTCAAGC -3'

Posted On

2016-06-06