Mutagenetix > Incidental Mutation

Incidental Mutation 'R7022:Ints6'

545717

Institutional Source

Beutler Lab

Gene Symbol

Ints6

Ensembl Gene

ENSMUSG00000035161

Gene Name

integrator complex subunit 6

Synonyms

Notch2l, DICE1, Ddx26, 2900075H24Rik

MMRRC Submission

045123-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62913779-62998618 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62951786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 232 (V232A)

Ref Sequence

ENSEMBL: ENSMUSP00000152954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053959] [ENSMUST00000223585]

AlphaFold

Q6PCM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000053959
AA Change: V232A

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

SMART Domains

Protein: ENSMUSP00000086788
Gene: ENSMUSG00000035161
AA Change: V232A

Domain	Start	End	E-Value	Type
VWA	1	158	4.11e-1	SMART
Blast:VWA	307	331	1e-7	BLAST
Blast:RRM_2	701	727	3e-8	BLAST
Pfam:INT_SG_DDX_CT_C	803	865	4e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000223585
AA Change: V232A

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

Meta Mutation Damage Score

0.3386

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and is located in the critical region of loss of heterozygosity (LOH). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,974,326 (GRCm39)	S203T	probably damaging	Het
Adat1	A	T	8: 112,716,494 (GRCm39)	M76K	probably damaging	Het
Ankrd33	G	C	15: 101,014,780 (GRCm39)	V56L	probably benign	Het
Ascc3	T	A	10: 50,592,725 (GRCm39)	L1134I	possibly damaging	Het
C3	T	G	17: 57,524,286 (GRCm39)	D948A	probably damaging	Het
Ccdc121rt3	A	C	5: 112,503,395 (GRCm39)	M103R	probably benign	Het
Ccdc40	A	G	11: 119,122,612 (GRCm39)	E138G	possibly damaging	Het
Cd80	A	G	16: 38,306,866 (GRCm39)		probably null	Het
Cdca7	T	A	2: 72,309,873 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,079,030 (GRCm39)	S447G	probably benign	Het
Cmya5	C	T	13: 93,205,786 (GRCm39)		probably null	Het
Cnnm2	A	T	19: 46,750,989 (GRCm39)	I260F	probably damaging	Het
Cnnm2	T	A	19: 46,847,379 (GRCm39)		probably null	Het
Col1a2	T	C	6: 4,534,639 (GRCm39)	L881P	unknown	Het
Crebbp	A	T	16: 3,935,187 (GRCm39)	S901T	probably damaging	Het
Dcun1d2	T	C	8: 13,321,637 (GRCm39)	Y158C	probably damaging	Het
Dnhd1	C	T	7: 105,370,005 (GRCm39)	P4477S	probably benign	Het
Donson	A	G	16: 91,478,218 (GRCm39)	Y428H	probably damaging	Het
Dsp	G	T	13: 38,375,716 (GRCm39)	W1167L	probably benign	Het
Elmo2	C	T	2: 165,136,961 (GRCm39)	V592M	probably damaging	Het
Enpp3	T	A	10: 24,702,093 (GRCm39)	E60D	probably damaging	Het
Erfl	A	T	7: 24,631,089 (GRCm39)		probably null	Het
Fam83b	TAAGA	T	9: 76,409,394 (GRCm39)		probably null	Het
Fbxo38	A	G	18: 62,669,295 (GRCm39)	C52R	probably damaging	Het
Gm10912	T	C	2: 103,897,055 (GRCm39)	W65R	probably damaging	Het
Gm43518	A	T	5: 124,074,490 (GRCm39)	M44L	probably benign	Het
Gnb1	T	A	4: 155,637,913 (GRCm39)	D212E	probably damaging	Het
Gnl1	A	G	17: 36,299,620 (GRCm39)	N597S	probably damaging	Het
Gprin1	T	G	13: 54,886,855 (GRCm39)	E473A	probably benign	Het
Ighv1-69	T	A	12: 115,586,834 (GRCm39)	M100L	probably benign	Het
Igkv14-100	T	C	6: 68,496,193 (GRCm39)	S29P	probably damaging	Het
Jup	A	G	11: 100,270,379 (GRCm39)	L376P	probably damaging	Het
Kdr	A	T	5: 76,132,920 (GRCm39)	Y119*	probably null	Het
Kif1a	T	G	1: 92,993,820 (GRCm39)	T377P	probably benign	Het
Lama5	C	A	2: 179,822,524 (GRCm39)	V2850L	probably damaging	Het
Lrp2	T	C	2: 69,313,552 (GRCm39)	Y2393C	probably damaging	Het
Mfsd13a	C	T	19: 46,356,763 (GRCm39)	Q255*	probably null	Het
Msh3	A	C	13: 92,372,096 (GRCm39)	D891E	probably damaging	Het
Msl2	A	G	9: 100,957,335 (GRCm39)	N2D	possibly damaging	Het
Myo19	T	C	11: 84,791,373 (GRCm39)	L476P	probably damaging	Het
Nbeal2	G	A	9: 110,467,686 (GRCm39)	R501W	probably damaging	Het
Nfasc	C	A	1: 132,548,787 (GRCm39)	K293N	probably damaging	Het
Npbwr1	A	T	1: 5,987,319 (GRCm39)	L65Q	probably damaging	Het
Nrbp1	T	A	5: 31,401,825 (GRCm39)	D34E	probably damaging	Het
Nup205	T	A	6: 35,220,871 (GRCm39)	V1891D	probably benign	Het
Or51g2	T	A	7: 102,623,175 (GRCm39)	N8I	possibly damaging	Het
Or5g29	T	A	2: 85,420,942 (GRCm39)	D19E	probably benign	Het
Or5k1b	T	C	16: 58,581,482 (GRCm39)	N19S	probably benign	Het
Or8g22	G	T	9: 38,958,379 (GRCm39)	C156*	probably null	Het
Oscp1	G	A	4: 125,976,783 (GRCm39)		probably null	Het
Pcdhgb7	A	G	18: 37,886,086 (GRCm39)	T419A	probably damaging	Het
Pdzph1	T	C	17: 59,281,121 (GRCm39)	D387G	probably benign	Het
Phc1	A	G	6: 122,311,990 (GRCm39)	F56S	probably damaging	Het
Pik3c2g	A	G	6: 139,599,061 (GRCm39)	E59G	possibly damaging	Het
Prickle1	G	T	15: 93,398,752 (GRCm39)	T692K	possibly damaging	Het
Rbm45	T	A	2: 76,206,738 (GRCm39)	L250Q	probably damaging	Het
Ror1	T	A	4: 100,265,108 (GRCm39)	M194K	probably damaging	Het
Rrbp1	T	A	2: 143,799,722 (GRCm39)		probably null	Het
Rundc3b	T	C	5: 8,562,348 (GRCm39)	K340R	probably null	Het
Scn1a	T	A	2: 66,148,243 (GRCm39)	T1101S	probably damaging	Het
Sdk1	C	G	5: 142,080,412 (GRCm39)		probably null	Het
Skic2	A	G	17: 35,064,183 (GRCm39)	F501S	possibly damaging	Het
Slc20a1	T	A	2: 129,041,979 (GRCm39)	M114K	probably damaging	Het
Sorl1	A	C	9: 41,881,047 (GRCm39)	I2158S	probably benign	Het
Strip1	A	T	3: 107,534,111 (GRCm39)	F174L	probably benign	Het
Sucnr1	A	T	3: 59,993,699 (GRCm39)	I76L	probably benign	Het
Syt17	C	T	7: 118,007,242 (GRCm39)	V412I	probably benign	Het
Tie1	T	A	4: 118,346,850 (GRCm39)	H18L	probably benign	Het
Tpp1	T	G	7: 105,398,129 (GRCm39)	K345Q	probably damaging	Het
Trcg1	G	A	9: 57,148,852 (GRCm39)	M141I	possibly damaging	Het
Trpc4ap	T	C	2: 155,499,742 (GRCm39)	N260S	probably benign	Het
Vps41	C	A	13: 19,026,438 (GRCm39)	T512K	possibly damaging	Het
Vps52	A	T	17: 34,178,293 (GRCm39)	M147L	probably benign	Het
Ywhaq	A	G	12: 21,441,752 (GRCm39)		probably benign	Het
Zfp619	A	G	7: 39,184,387 (GRCm39)	N139S	probably benign	Het

Other mutations in Ints6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00535:Ints6	APN	14	62,940,628 (GRCm39)	missense	probably damaging	1.00
IGL00763:Ints6	APN	14	62,938,314 (GRCm39)	splice site	probably benign
IGL01624:Ints6	APN	14	62,934,320 (GRCm39)	missense	probably benign	0.07
IGL01721:Ints6	APN	14	62,951,188 (GRCm39)	missense	probably damaging	0.96
IGL02146:Ints6	APN	14	62,996,709 (GRCm39)	missense	possibly damaging	0.91
G1Funyon:Ints6	UTSW	14	62,939,902 (GRCm39)	missense	probably benign
R0302:Ints6	UTSW	14	62,946,961 (GRCm39)	missense	probably damaging	1.00
R0320:Ints6	UTSW	14	62,945,084 (GRCm39)	nonsense	probably null
R0543:Ints6	UTSW	14	62,934,060 (GRCm39)	missense	probably damaging	1.00
R0554:Ints6	UTSW	14	62,942,200 (GRCm39)	missense	possibly damaging	0.87
R0620:Ints6	UTSW	14	62,934,208 (GRCm39)	missense	probably benign
R0960:Ints6	UTSW	14	62,947,015 (GRCm39)	missense	probably benign	0.39
R1216:Ints6	UTSW	14	62,945,147 (GRCm39)	missense	probably damaging	1.00
R1254:Ints6	UTSW	14	62,953,823 (GRCm39)	missense	probably benign	0.27
R1296:Ints6	UTSW	14	62,942,352 (GRCm39)	splice site	probably benign
R1548:Ints6	UTSW	14	62,951,141 (GRCm39)	missense	probably damaging	1.00
R1944:Ints6	UTSW	14	62,931,089 (GRCm39)	missense	probably benign	0.03
R2040:Ints6	UTSW	14	62,951,138 (GRCm39)	missense	probably damaging	0.99
R2279:Ints6	UTSW	14	62,942,131 (GRCm39)	critical splice donor site	probably null
R2844:Ints6	UTSW	14	62,942,275 (GRCm39)	missense	probably damaging	0.97
R3107:Ints6	UTSW	14	62,998,041 (GRCm39)	missense	possibly damaging	0.92
R3407:Ints6	UTSW	14	62,934,386 (GRCm39)	missense	probably benign	0.00
R3895:Ints6	UTSW	14	62,934,060 (GRCm39)	missense	probably damaging	1.00
R4608:Ints6	UTSW	14	62,940,678 (GRCm39)	missense	probably damaging	1.00
R4903:Ints6	UTSW	14	62,939,911 (GRCm39)	missense	probably damaging	1.00
R4964:Ints6	UTSW	14	62,939,911 (GRCm39)	missense	probably damaging	1.00
R4966:Ints6	UTSW	14	62,939,911 (GRCm39)	missense	probably damaging	1.00
R5014:Ints6	UTSW	14	62,997,640 (GRCm39)	missense	probably benign	0.00
R5369:Ints6	UTSW	14	62,981,384 (GRCm39)	missense	probably damaging	1.00
R6478:Ints6	UTSW	14	62,938,235 (GRCm39)	missense	probably benign	0.37
R7403:Ints6	UTSW	14	62,945,104 (GRCm39)	missense	possibly damaging	0.50
R7422:Ints6	UTSW	14	62,942,224 (GRCm39)	missense	probably benign
R7909:Ints6	UTSW	14	62,996,779 (GRCm39)	missense	probably damaging	0.99
R8147:Ints6	UTSW	14	62,951,186 (GRCm39)	missense	probably damaging	1.00
R8301:Ints6	UTSW	14	62,939,902 (GRCm39)	missense	probably benign
R8496:Ints6	UTSW	14	62,943,325 (GRCm39)	missense	probably benign	0.06
R8502:Ints6	UTSW	14	62,998,028 (GRCm39)	missense	possibly damaging	0.92
R8514:Ints6	UTSW	14	62,933,166 (GRCm39)	missense	possibly damaging	0.89
R8540:Ints6	UTSW	14	62,934,353 (GRCm39)	missense	probably benign	0.39
R8733:Ints6	UTSW	14	62,934,297 (GRCm39)	missense	probably benign	0.01
R8810:Ints6	UTSW	14	62,939,902 (GRCm39)	missense	probably benign	0.02
R8839:Ints6	UTSW	14	62,931,122 (GRCm39)	missense	probably benign	0.06
R9057:Ints6	UTSW	14	62,951,740 (GRCm39)	critical splice donor site	probably null
R9178:Ints6	UTSW	14	62,947,036 (GRCm39)	missense	probably damaging	1.00
R9318:Ints6	UTSW	14	62,934,147 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATGACAACTGGCCTTGTTAATC -3'
(R):5'- GGAAATACCGACCACTTAGTTTC -3'

Sequencing Primer
(F):5'- AGCTAGGATCTCTATGTAGTCCTGC -3'
(R):5'- GTCCTTATGGGAGTTTGAC -3'

Posted On

2019-05-13