Mutagenetix > Incidental Mutations

Incidental Mutation 'R1146:Iqub'

165103

Institutional Source

Beutler Lab

Gene Symbol

Iqub

Ensembl Gene

ENSMUSG00000046192

Gene Name

IQ motif and ubiquitin domain containing

Synonyms

4932408B21Rik, Trs4

MMRRC Submission

039219-MU

Accession Numbers

Genbank: NM_172535; MGI: 3041159

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24444865-24515067 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24505628 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 94 (L94F)

Ref Sequence

ENSEMBL: ENSMUSP00000051177 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052277
AA Change: L94F

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051177
Gene: ENSMUSG00000046192
AA Change: L94F

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 95.4%
20x: 88.7%

Validation Efficiency

98% (44/45)

Allele List at MGI

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

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,531,676	V1848E	probably damaging	Het
Alpk3	A	G	7: 81,077,595	K158E	probably damaging	Het
Arrdc4	T	A	7: 68,740,008	E356D	probably damaging	Het
Asb4	A	G	6: 5,423,591	N246S	probably damaging	Het
Ccdc150	A	T	1: 54,364,971		probably benign	Het
Ctsj	G	A	13: 61,002,498	P230L	probably benign	Het
Dync1i2	C	T	2: 71,227,820		probably benign	Het
Eme1	A	G	11: 94,645,451	L564P	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Frg1	A	G	8: 41,411,217		probably benign	Het
Fzd2	A	T	11: 102,605,380	S217C	possibly damaging	Het
Gaa	G	T	11: 119,274,904	R81L	probably damaging	Het
Gfral	A	G	9: 76,167,059	V368A	probably benign	Het
Gm10774	T	C	2: 126,709,472	Y29C	probably benign	Het
Gucy1a2	T	A	9: 3,759,830	N545K	probably damaging	Het
Herc2	T	C	7: 56,146,696	S1939P	probably benign	Het
Ifnk	T	C	4: 35,152,231	I53T	probably benign	Het
Kpna1	C	T	16: 36,033,379	R460*	probably null	Het
Masp1	T	C	16: 23,492,115	E189G	probably damaging	Het
Mogat1	A	G	1: 78,523,613	I105V	probably benign	Het
Mpi	A	G	9: 57,545,189		probably benign	Het
Msh2	C	A	17: 87,680,060	D209E	probably benign	Het
Nsf	G	A	11: 103,828,538	T646I	probably damaging	Het
Olfr1257	C	T	2: 89,881,206	P127S	probably damaging	Het
Olfr1416	G	A	1: 92,479,890	H244Y	probably damaging	Het
Olfr1449	T	A	19: 12,934,965	S76T	possibly damaging	Het
Olfr980	A	T	9: 40,006,094	V285D	possibly damaging	Het
Otogl	T	A	10: 107,886,513	I327F	probably damaging	Het
Pappa2	T	C	1: 158,854,982	D832G	probably damaging	Het
Pax5	G	T	4: 44,697,512		probably benign	Het
Pfkfb4	A	G	9: 109,007,726	E163G	probably benign	Het
Phc1	T	C	6: 122,323,457		probably benign	Het
Piwil1	T	C	5: 128,747,893	S552P	probably benign	Het
Ppfia3	A	C	7: 45,352,215	D424E	probably benign	Het
Prss16	A	G	13: 22,006,968		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbsn	A	G	6: 92,201,730		probably null	Het
Rexo1	C	T	10: 80,544,405	S919N	probably benign	Het
Sec31a	T	C	5: 100,362,173	N1152D	probably damaging	Het
Sel1l3	A	T	5: 53,117,103	F1012I	possibly damaging	Het
Sema4c	A	G	1: 36,550,565	V539A	probably benign	Het
Sf3b5	A	G	10: 13,008,831	E70G	possibly damaging	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,357,755		probably benign	Het
Tor1aip2	T	C	1: 156,064,737	V263A	possibly damaging	Het
Unc45b	A	G	11: 82,922,907	E380G	probably damaging	Het
Usp16	C	T	16: 87,474,648	T364M	possibly damaging	Het
Wwox	T	C	8: 114,712,036	S281P	probably damaging	Het
Zfp110	A	G	7: 12,846,794		probably null	Het
Zfp335	G	A	2: 164,896,123	A856V	probably benign	Het
Zfp652	G	A	11: 95,749,782	E178K	possibly damaging	Het

Other mutations in Iqub

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Iqub	APN	6	24501006	splice site	probably benign
IGL01447:Iqub	APN	6	24505628	missense	probably benign	0.01
IGL01621:Iqub	APN	6	24446212	missense	probably benign	0.45
IGL01702:Iqub	APN	6	24500313	missense	probably benign	0.13
IGL01917:Iqub	APN	6	24479319	missense	probably damaging	0.97
IGL02411:Iqub	APN	6	24449811	missense	probably damaging	0.98
IGL02580:Iqub	APN	6	24501399	missense	probably benign	0.06
IGL02704:Iqub	APN	6	24505910	splice site	probably benign
IGL02901:Iqub	APN	6	24454195	missense	probably damaging	1.00
D4043:Iqub	UTSW	6	24505751	missense	possibly damaging	0.81
R0304:Iqub	UTSW	6	24454291	missense	probably damaging	0.99
R0391:Iqub	UTSW	6	24446155	missense	probably benign	0.00
R0453:Iqub	UTSW	6	24450830	missense	probably damaging	1.00
R0464:Iqub	UTSW	6	24479263	nonsense	probably null
R0465:Iqub	UTSW	6	24503784	missense	probably damaging	1.00
R0479:Iqub	UTSW	6	24505810	missense	probably benign	0.28
R0606:Iqub	UTSW	6	24501261	splice site	probably benign
R1146:Iqub	UTSW	6	24505628	missense	possibly damaging	0.89
R1238:Iqub	UTSW	6	24505885	missense	probably benign	0.03
R1452:Iqub	UTSW	6	24491559	missense	probably benign	0.13
R1927:Iqub	UTSW	6	24491671	missense	probably benign	0.11
R3195:Iqub	UTSW	6	24462037	splice site	probably benign
R4438:Iqub	UTSW	6	24505868	missense	probably benign	0.01
R4577:Iqub	UTSW	6	24501291	missense	probably damaging	0.99
R4671:Iqub	UTSW	6	24479184	missense	probably benign	0.00
R4860:Iqub	UTSW	6	24450842	missense	probably damaging	0.99
R4860:Iqub	UTSW	6	24450842	missense	probably damaging	0.99
R4906:Iqub	UTSW	6	24501369	missense	probably damaging	0.99
R5605:Iqub	UTSW	6	24505621	missense	probably benign
R5772:Iqub	UTSW	6	24454251	missense	possibly damaging	0.64
R5801:Iqub	UTSW	6	24449769	missense	probably benign	0.11
R5853:Iqub	UTSW	6	24491602	missense	probably benign	0.00
R6423:Iqub	UTSW	6	24491529	missense	probably damaging	0.98
R6475:Iqub	UTSW	6	24449745	missense	probably damaging	1.00
R6476:Iqub	UTSW	6	24449745	missense	probably damaging	1.00
R6477:Iqub	UTSW	6	24449745	missense	probably damaging	1.00
R6701:Iqub	UTSW	6	24449745	missense	probably damaging	1.00
R6702:Iqub	UTSW	6	24449745	missense	probably damaging	1.00
R6703:Iqub	UTSW	6	24449745	missense	probably damaging	1.00
R6860:Iqub	UTSW	6	24505738	missense	possibly damaging	0.81
R7331:Iqub	UTSW	6	24500394	missense	possibly damaging	0.73
R7530:Iqub	UTSW	6	24450623	missense	probably benign	0.00
R7997:Iqub	UTSW	6	24501414	missense	possibly damaging	0.86
R8050:Iqub	UTSW	6	24503785	missense	possibly damaging	0.95
X0025:Iqub	UTSW	6	24500384	missense	probably damaging	0.96
Z1088:Iqub	UTSW	6	24500243	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGGCTCCAGTCCCACACTAAATC -3'
(R):5'- GATGAAGTGCAGGAACTCACCACC -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- TCACCACCGAGAGCGAG -3'

Posted On

2014-03-28