Mutagenetix > Incidental Mutations

Incidental Mutation 'R8141:Iqub'

632534

Institutional Source

Beutler Lab

Gene Symbol

Iqub

Ensembl Gene

ENSMUSG00000046192

Gene Name

IQ motif and ubiquitin domain containing

Synonyms

4932408B21Rik, Trs4

MMRRC Submission

Accession Numbers

Genbank: NM_172535; MGI: 3041159

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24444865-24515067 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24491609 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 359 (K359N)

Ref Sequence

ENSEMBL: ENSMUSP00000051177 (fasta)

Gene Model

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

AlphaFold

Q8CDK3

Predicted Effect

probably benign
Transcript: ENSMUST00000052277
AA Change: K359N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000051177
Gene: ENSMUSG00000046192
AA Change: K359N

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: 99.8%
3x: 99.6%
10x: 98.3%
20x: 90.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

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

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,258,405	T229A	probably benign	Het
4930438A08Rik	A	G	11: 58,286,585	E40G		Het
Actn2	T	C	13: 12,288,630	D428G	probably damaging	Het
Arl14epl	C	A	18: 46,926,343	N8K	probably benign	Het
Bend7	T	C	2: 4,752,825	V226A	probably benign	Het
C1s1	A	T	6: 124,531,362	L556Q	probably damaging	Het
Casr	T	C	16: 36,494,811	K966E	probably damaging	Het
Ccm2l	T	C	2: 153,070,871	L110P	probably damaging	Het
Cdhr4	G	A	9: 107,996,792	R59H		Het
Celf3	C	A	3: 94,488,543	N410K	probably damaging	Het
Cpne6	T	C	14: 55,512,609	C66R	possibly damaging	Het
Cyp2f2	G	A	7: 27,129,253	V183I	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,729,149		probably benign	Het
Fam53b	A	C	7: 132,760,029	V90G	probably damaging	Het
Fat3	T	A	9: 15,997,066	I2547F	possibly damaging	Het
Foxk1	A	G	5: 142,453,961	Y524C	probably damaging	Het
Gm884	T	C	11: 103,621,029	T38A	unknown	Het
Gpr87	A	G	3: 59,179,599	S162P	probably damaging	Het
Grasp	T	A	15: 101,231,909	C358S	possibly damaging	Het
Ifi204	A	G	1: 173,755,623	V343A	possibly damaging	Het
Igsf10	A	G	3: 59,330,528	L744P	probably damaging	Het
Kdm3b	A	T	18: 34,828,546	K1459*	probably null	Het
Kirrel	C	T	3: 87,086,428	W507*	probably null	Het
Klra17	T	C	6: 129,872,329	D94G	probably damaging	Het
Llgl1	G	C	11: 60,710,316	E693D	probably benign	Het
Lypd4	A	T	7: 24,864,829	D201E	possibly damaging	Het
Nin	A	G	12: 70,030,021	S1794P		Het
Olfr430	T	C	1: 174,069,922	L208P	probably damaging	Het
Oog2	T	C	4: 144,194,207	L70P	probably damaging	Het
Pacsin1	G	T	17: 27,707,060	R282S	possibly damaging	Het
Pcdhb9	T	A	18: 37,402,308	Y452N	probably damaging	Het
Pdgfra	T	C	5: 75,177,726	V547A	possibly damaging	Het
Plcb4	T	C	2: 135,939,249	F209L	probably damaging	Het
Pnpla6	T	C	8: 3,521,384	S158P	probably benign	Het
Prlhr	C	G	19: 60,467,309	R273P	probably damaging	Het
Prss41	G	A	17: 23,837,633	P196L	probably damaging	Het
Ptpn22	A	G	3: 103,886,327	E598G	possibly damaging	Het
Rasal2	T	C	1: 157,164,670	D569G	possibly damaging	Het
Sf3b3	A	C	8: 110,820,851	M715R	possibly damaging	Het
Ska1	T	C	18: 74,206,836	N13S	probably benign	Het
Spocd1	A	C	4: 129,929,704	E98A		Het
Sycp1	G	T	3: 102,935,569	A28E	possibly damaging	Het
Syf2	C	T	4: 134,936,871	R199C	probably damaging	Het
Syne2	A	G	12: 76,061,668	D942G	possibly damaging	Het
Tmem63a	A	G	1: 180,974,211	T764A	probably benign	Het
Ttf1	C	T	2: 29,067,226	Q503*	probably null	Het
Usp13	T	C	3: 32,894,876	V454A	possibly damaging	Het
Usp47	A	G	7: 112,053,265	T50A	possibly damaging	Het
Wdr66	T	G	5: 123,286,430	V726G	possibly damaging	Het
Zadh2	T	C	18: 84,094,526	L109P	probably benign	Het
Zfyve26	A	T	12: 79,268,557	C1382S	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
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
R8153:Iqub	UTSW	6	24450790	nonsense	probably null
R8163:Iqub	UTSW	6	24449715	missense	probably benign	0.01
R8702:Iqub	UTSW	6	24461915	missense	probably damaging	1.00
R8824:Iqub	UTSW	6	24479308	nonsense	probably null
R8899:Iqub	UTSW	6	24505769	missense	probably benign	0.00
R9075:Iqub	UTSW	6	24446125	missense	probably damaging	1.00
R9186:Iqub	UTSW	6	24450767	missense	possibly damaging	0.92
R9240:Iqub	UTSW	6	24505623	missense	probably benign
R9256:Iqub	UTSW	6	24446199	missense	possibly damaging	0.92
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'- GGAGATCCCTACAACAACAGTG -3'
(R):5'- TCAGACTAATTTCCTAAGTTCGGC -3'

Sequencing Primer
(F):5'- AAGCCTGCTTGAGCTTCCAG -3'
(R):5'- ACTAATTTCCTAAGTTCGGCGGGTC -3'

Posted On

2020-06-30