Mutagenetix > Incidental Mutation

Incidental Mutation 'R8702:Iqub'

669109

Institutional Source

Beutler Lab

Gene Symbol

Iqub

Ensembl Gene

ENSMUSG00000046192

Gene Name

IQ motif and ubiquitin domain containing

Synonyms

4932408B21Rik, Trs4

MMRRC Submission

068556-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24444864-24515066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24461914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 506 (L506H)

Ref Sequence

ENSEMBL: ENSMUSP00000051177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052277]

AlphaFold

Q8CDK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000052277
AA Change: L506H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051177
Gene: ENSMUSG00000046192
AA Change: L506H

Domain	Start	End	E-Value	Type
PDB:2DAF\|A	119	216	1e-38	PDB
Blast:UBQ	129	199	3e-26	BLAST
low complexity region	218	229	N/A	INTRINSIC
low complexity region	289	306	N/A	INTRINSIC
IQ	333	355	1.74e-1	SMART
low complexity region	357	383	N/A	INTRINSIC
low complexity region	735	742	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (33/33)

Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	C	13: 12,297,415 (GRCm39)	R501G	probably damaging	Het
Arhgap10	A	G	8: 77,985,732 (GRCm39)	F712L	probably benign	Het
Arhgef10	C	A	8: 14,992,638 (GRCm39)	A292E	probably benign	Het
Bub1b	T	A	2: 118,468,975 (GRCm39)	D913E	probably benign	Het
Cfap61	T	C	2: 146,042,710 (GRCm39)	I1161T	probably benign	Het
Cfap91	A	G	16: 38,152,674 (GRCm39)	Y179H	probably benign	Het
Col4a3	A	T	1: 82,688,700 (GRCm39)	T1348S	unknown	Het
Dck	T	A	5: 88,926,272 (GRCm39)	N239K	probably damaging	Het
Dmxl1	G	A	18: 49,992,202 (GRCm39)	R316H	probably benign	Het
Efl1	A	G	7: 82,399,998 (GRCm39)		probably null	Het
Elac1	G	T	18: 73,872,291 (GRCm39)	Q235K	probably benign	Het
Fer1l4	C	A	2: 155,861,310 (GRCm39)	W1952L	probably benign	Het
Fyttd1	A	G	16: 32,704,529 (GRCm39)	K47E	probably damaging	Het
Gm14418	A	T	2: 177,079,015 (GRCm39)	Y327N	probably damaging	Het
Grxcr2	T	C	18: 42,131,754 (GRCm39)	D105G	possibly damaging	Het
Kcnj10	A	G	1: 172,197,127 (GRCm39)	T214A	probably benign	Het
Kcp	A	T	6: 29,482,750 (GRCm39)	C1440S	probably damaging	Het
Lrrtm2	G	T	18: 35,346,018 (GRCm39)	A428D	probably damaging	Het
Neb	T	C	2: 52,085,717 (GRCm39)	Y5506C	probably damaging	Het
Nrros	T	A	16: 31,966,589 (GRCm39)		probably benign	Het
Or5d35	T	C	2: 87,855,839 (GRCm39)	F258L	possibly damaging	Het
Or6c65	A	T	10: 129,604,284 (GRCm39)	L306F	probably benign	Het
Oxct1	T	C	15: 4,183,243 (GRCm39)	S485P	probably benign	Het
Pakap	C	T	4: 57,709,489 (GRCm39)	Q145*	probably null	Het
Pecr	G	T	1: 72,306,661 (GRCm39)	Q207K	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rev3l	T	A	10: 39,714,465 (GRCm39)	Y2396*	probably null	Het
Serbp1	G	T	6: 67,244,156 (GRCm39)	D26Y	probably damaging	Het
Sirt3	A	T	7: 140,458,027 (GRCm39)	C41S		Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tcaf2	A	T	6: 42,619,701 (GRCm39)	S109T	probably benign	Het
Tpd52l2	C	T	2: 181,143,749 (GRCm39)	H73Y	probably damaging	Het
Xkr6	G	T	14: 64,057,103 (GRCm39)	W594L	unknown	Het

Other mutations in Iqub

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Iqub	APN	6	24,501,005 (GRCm39)	splice site	probably benign
IGL01447:Iqub	APN	6	24,505,627 (GRCm39)	missense	probably benign	0.01
IGL01621:Iqub	APN	6	24,446,211 (GRCm39)	missense	probably benign	0.45
IGL01702:Iqub	APN	6	24,500,312 (GRCm39)	missense	probably benign	0.13
IGL01917:Iqub	APN	6	24,479,318 (GRCm39)	missense	probably damaging	0.97
IGL02411:Iqub	APN	6	24,449,810 (GRCm39)	missense	probably damaging	0.98
IGL02580:Iqub	APN	6	24,501,398 (GRCm39)	missense	probably benign	0.06
IGL02704:Iqub	APN	6	24,505,909 (GRCm39)	splice site	probably benign
IGL02901:Iqub	APN	6	24,454,194 (GRCm39)	missense	probably damaging	1.00
D4043:Iqub	UTSW	6	24,505,750 (GRCm39)	missense	possibly damaging	0.81
R0304:Iqub	UTSW	6	24,454,290 (GRCm39)	missense	probably damaging	0.99
R0391:Iqub	UTSW	6	24,446,154 (GRCm39)	missense	probably benign	0.00
R0453:Iqub	UTSW	6	24,450,829 (GRCm39)	missense	probably damaging	1.00
R0464:Iqub	UTSW	6	24,479,262 (GRCm39)	nonsense	probably null
R0465:Iqub	UTSW	6	24,503,783 (GRCm39)	missense	probably damaging	1.00
R0479:Iqub	UTSW	6	24,505,809 (GRCm39)	missense	probably benign	0.28
R0606:Iqub	UTSW	6	24,501,260 (GRCm39)	splice site	probably benign
R1146:Iqub	UTSW	6	24,505,627 (GRCm39)	missense	possibly damaging	0.89
R1146:Iqub	UTSW	6	24,505,627 (GRCm39)	missense	possibly damaging	0.89
R1238:Iqub	UTSW	6	24,505,884 (GRCm39)	missense	probably benign	0.03
R1452:Iqub	UTSW	6	24,491,558 (GRCm39)	missense	probably benign	0.13
R1927:Iqub	UTSW	6	24,491,670 (GRCm39)	missense	probably benign	0.11
R3195:Iqub	UTSW	6	24,462,036 (GRCm39)	splice site	probably benign
R4438:Iqub	UTSW	6	24,505,867 (GRCm39)	missense	probably benign	0.01
R4577:Iqub	UTSW	6	24,501,290 (GRCm39)	missense	probably damaging	0.99
R4671:Iqub	UTSW	6	24,479,183 (GRCm39)	missense	probably benign	0.00
R4860:Iqub	UTSW	6	24,450,841 (GRCm39)	missense	probably damaging	0.99
R4860:Iqub	UTSW	6	24,450,841 (GRCm39)	missense	probably damaging	0.99
R4906:Iqub	UTSW	6	24,501,368 (GRCm39)	missense	probably damaging	0.99
R5605:Iqub	UTSW	6	24,505,620 (GRCm39)	missense	probably benign
R5772:Iqub	UTSW	6	24,454,250 (GRCm39)	missense	possibly damaging	0.64
R5801:Iqub	UTSW	6	24,449,768 (GRCm39)	missense	probably benign	0.11
R5853:Iqub	UTSW	6	24,491,601 (GRCm39)	missense	probably benign	0.00
R6423:Iqub	UTSW	6	24,491,528 (GRCm39)	missense	probably damaging	0.98
R6475:Iqub	UTSW	6	24,449,744 (GRCm39)	missense	probably damaging	1.00
R6476:Iqub	UTSW	6	24,449,744 (GRCm39)	missense	probably damaging	1.00
R6477:Iqub	UTSW	6	24,449,744 (GRCm39)	missense	probably damaging	1.00
R6701:Iqub	UTSW	6	24,449,744 (GRCm39)	missense	probably damaging	1.00
R6702:Iqub	UTSW	6	24,449,744 (GRCm39)	missense	probably damaging	1.00
R6703:Iqub	UTSW	6	24,449,744 (GRCm39)	missense	probably damaging	1.00
R6860:Iqub	UTSW	6	24,505,737 (GRCm39)	missense	possibly damaging	0.81
R7331:Iqub	UTSW	6	24,500,393 (GRCm39)	missense	possibly damaging	0.73
R7530:Iqub	UTSW	6	24,450,622 (GRCm39)	missense	probably benign	0.00
R7997:Iqub	UTSW	6	24,501,413 (GRCm39)	missense	possibly damaging	0.86
R8050:Iqub	UTSW	6	24,503,784 (GRCm39)	missense	possibly damaging	0.95
R8141:Iqub	UTSW	6	24,491,608 (GRCm39)	missense	probably benign	0.00
R8153:Iqub	UTSW	6	24,450,789 (GRCm39)	nonsense	probably null
R8163:Iqub	UTSW	6	24,449,714 (GRCm39)	missense	probably benign	0.01
R8824:Iqub	UTSW	6	24,479,307 (GRCm39)	nonsense	probably null
R8899:Iqub	UTSW	6	24,505,768 (GRCm39)	missense	probably benign	0.00
R9075:Iqub	UTSW	6	24,446,124 (GRCm39)	missense	probably damaging	1.00
R9186:Iqub	UTSW	6	24,450,766 (GRCm39)	missense	possibly damaging	0.92
R9240:Iqub	UTSW	6	24,505,622 (GRCm39)	missense	probably benign
R9256:Iqub	UTSW	6	24,446,198 (GRCm39)	missense	possibly damaging	0.92
X0025:Iqub	UTSW	6	24,500,383 (GRCm39)	missense	probably damaging	0.96
Z1088:Iqub	UTSW	6	24,500,242 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GGATATATCTATCCCCAAACTTGGC -3'
(R):5'- GGATGGATTTCTAGTGGATGAGACA -3'

Sequencing Primer
(F):5'- CCAAACTTGGCAAAATAGGTTAGCTG -3'
(R):5'- TCAGCTCCAAATGTCTGG -3'

Posted On

2021-04-30