Mutagenetix > Incidental Mutation

Incidental Mutation 'R0554:Ints6'

45399

Institutional Source

Beutler Lab

Gene Symbol

Ints6

Ensembl Gene

ENSMUSG00000035161

Gene Name

integrator complex subunit 6

Synonyms

Notch2l, DICE1, Ddx26, 2900075H24Rik

MMRRC Submission

038746-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0554 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62913779-62998618 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62942200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 511 (V511D)

Ref Sequence

ENSEMBL: ENSMUSP00000152954 (fasta)

Gene Model

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

AlphaFold

Q6PCM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053959
AA Change: V511D

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000086788
Gene: ENSMUSG00000035161
AA Change: V511D

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

possibly damaging
Transcript: ENSMUST00000223585
AA Change: V511D

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225700

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,181 (GRCm39)	Y255*	probably null	Het
1810024B03Rik	A	G	2: 127,029,196 (GRCm39)	M1T	probably null	Het
4930503L19Rik	T	C	18: 70,600,451 (GRCm39)	D386G	probably damaging	Het
Ace2	T	A	X: 162,958,947 (GRCm39)	N601K	probably benign	Het
Adam4	A	C	12: 81,468,198 (GRCm39)	I141R	probably damaging	Het
Adcy10	G	A	1: 165,340,699 (GRCm39)	G235S	probably benign	Het
Adcy5	G	A	16: 35,114,387 (GRCm39)	V997I	probably benign	Het
Aff2	T	G	X: 68,907,680 (GRCm39)	W1221G	possibly damaging	Het
Ankrd44	T	C	1: 54,802,917 (GRCm39)	N194D	probably benign	Het
Apba2	T	G	7: 64,395,528 (GRCm39)	L668R	probably damaging	Het
Asph	T	C	4: 9,604,581 (GRCm39)	D152G	probably damaging	Het
Bcl3	C	G	7: 19,553,991 (GRCm39)	V126L	probably benign	Het
Cd163	A	G	6: 124,289,619 (GRCm39)	T446A	probably benign	Het
Cd209g	C	T	8: 4,184,995 (GRCm39)		probably benign	Het
Cdadc1	A	T	14: 59,823,901 (GRCm39)	V197E	probably damaging	Het
CN725425	T	C	15: 91,144,966 (GRCm39)	C610R	possibly damaging	Het
Col6a2	A	G	10: 76,446,995 (GRCm39)		probably null	Het
Coro7	A	G	16: 4,450,121 (GRCm39)	L576P	possibly damaging	Het
Dgkb	T	A	12: 38,266,030 (GRCm39)	V503E	probably benign	Het
Dhx57	A	T	17: 80,567,665 (GRCm39)	L806*	probably null	Het
Dlec1	T	C	9: 118,944,070 (GRCm39)	V373A	probably benign	Het
Dnah11	G	T	12: 117,894,913 (GRCm39)	R3645S	probably benign	Het
Dnhd1	T	C	7: 105,343,602 (GRCm39)	S1649P	probably benign	Het
Draxin	T	G	4: 148,192,420 (GRCm39)	K297N	probably damaging	Het
Epha7	T	C	4: 28,951,401 (GRCm39)	S841P	probably damaging	Het
Esp8	T	G	17: 40,841,166 (GRCm39)	D142E	unknown	Het
F5	T	G	1: 164,007,018 (GRCm39)	V274G	probably damaging	Het
Fancc	T	C	13: 63,465,283 (GRCm39)	S475G	probably benign	Het
Fmo3	T	C	1: 162,781,901 (GRCm39)	N484S	probably benign	Het
Focad	T	C	4: 88,267,126 (GRCm39)	Y1046H	unknown	Het
Furin	C	T	7: 80,041,032 (GRCm39)	G602D	probably damaging	Het
Fut8	A	T	12: 77,411,744 (GRCm39)	I69L	probably benign	Het
Gnai3	A	G	3: 108,030,928 (GRCm39)	I78T	probably benign	Het
Gpr182	T	C	10: 127,586,940 (GRCm39)	I4V	probably benign	Het
Gpr63	T	C	4: 25,007,447 (GRCm39)	M57T	probably benign	Het
Grm1	T	A	10: 10,595,667 (GRCm39)	T654S	probably benign	Het
Gtf2h4	T	C	17: 35,979,531 (GRCm39)	T371A	probably benign	Het
Helq	T	C	5: 100,938,066 (GRCm39)	N460S	probably benign	Het
Hmcn1	T	C	1: 150,594,868 (GRCm39)	N1867S	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Iigp1c	G	A	18: 60,378,489 (GRCm39)	R8H	probably benign	Het
Inpp5j	A	G	11: 3,449,644 (GRCm39)	Y713H	probably damaging	Het
Irag2	G	A	6: 145,111,013 (GRCm39)	A237T	probably benign	Het
Itga4	A	G	2: 79,109,461 (GRCm39)	Y220C	probably damaging	Het
Itgav	T	G	2: 83,624,614 (GRCm39)	S735A	possibly damaging	Het
Kctd16	A	G	18: 40,391,492 (GRCm39)	I27V	probably benign	Het
Klhl6	T	C	16: 19,772,343 (GRCm39)	E334G	probably damaging	Het
Ltbp1	T	A	17: 75,532,274 (GRCm39)	L116H	probably damaging	Het
Magohb	T	A	6: 131,262,660 (GRCm39)	H98L	probably benign	Het
Mgat2	A	G	12: 69,232,166 (GRCm39)	T247A	probably benign	Het
Mtif2	G	A	11: 29,483,398 (GRCm39)		probably null	Het
Myrfl	T	C	10: 116,664,878 (GRCm39)	E384G	probably damaging	Het
Nfam1	G	T	15: 82,917,410 (GRCm39)	R8S	probably benign	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or14c46	A	T	7: 85,918,865 (GRCm39)	I44N	probably damaging	Het
Or2w3b	T	C	11: 58,623,865 (GRCm39)	N42S	probably damaging	Het
Or5m10b	T	C	2: 85,699,863 (GRCm39)	F309S	probably benign	Het
Or6c207	T	C	10: 129,104,368 (GRCm39)	T275A	probably benign	Het
Orc4	C	T	2: 48,795,433 (GRCm39)	S431N	probably benign	Het
Pax2	T	C	19: 44,750,300 (GRCm39)	V129A	probably damaging	Het
Pcdhb15	A	G	18: 37,607,572 (GRCm39)	D268G	probably damaging	Het
Pdcd1	G	A	1: 93,967,107 (GRCm39)	R264C	probably damaging	Het
Pi15	T	A	1: 17,691,872 (GRCm39)	M187K	probably benign	Het
Plag1	C	T	4: 3,904,546 (GRCm39)	C215Y	probably damaging	Het
Plagl1	A	G	10: 13,002,926 (GRCm39)	T65A	probably benign	Het
Pramel51	T	C	12: 88,144,328 (GRCm39)	T162A	probably benign	Het
Prss48	T	A	3: 85,908,228 (GRCm39)	Q18L	probably benign	Het
Prune2	T	A	19: 17,102,582 (GRCm39)	C2580*	probably null	Het
Rab40b	T	A	11: 121,250,432 (GRCm39)	Q74L	probably damaging	Het
Raf1	A	G	6: 115,600,491 (GRCm39)	I376T	probably benign	Het
Rbm46	A	T	3: 82,772,575 (GRCm39)	F186I	probably damaging	Het
Reps1	C	T	10: 17,998,867 (GRCm39)	T720M	possibly damaging	Het
Rgs22	A	G	15: 36,054,855 (GRCm39)	M649T	probably benign	Het
Rhot1	C	T	11: 80,134,264 (GRCm39)	R47*	probably null	Het
Rhox2f	A	G	X: 36,753,124 (GRCm39)	Y8C	possibly damaging	Het
Rnf17	A	G	14: 56,760,007 (GRCm39)	Y1604C	probably damaging	Het
Rnf40	T	C	7: 127,201,756 (GRCm39)	C943R	probably damaging	Het
Ropn1l	A	T	15: 31,451,295 (GRCm39)	M63K	probably benign	Het
Sbf2	C	A	7: 110,027,494 (GRCm39)	V501F	probably damaging	Het
Sh3bp1	T	A	15: 78,791,467 (GRCm39)	M354K	probably damaging	Het
Sipa1l3	T	C	7: 29,087,455 (GRCm39)	H590R	possibly damaging	Het
Slco6d1	T	A	1: 98,394,422 (GRCm39)	C369S	probably benign	Het
Sulf1	T	C	1: 12,875,418 (GRCm39)	Y143H	probably damaging	Het
Tiam2	A	T	17: 3,488,956 (GRCm39)	R755*	probably null	Het
Trim12c	C	A	7: 103,994,169 (GRCm39)	L228F	probably damaging	Het
Ttc23l	G	T	15: 10,530,743 (GRCm39)	Q290K	probably benign	Het
Uba3	T	C	6: 97,168,221 (GRCm39)		probably null	Het
Ugt1a10	A	G	1: 87,983,817 (GRCm39)	E205G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,206 (GRCm39)	S72T	probably benign	Het
Upk3bl	C	T	5: 136,088,648 (GRCm39)	T113I	probably damaging	Het
Uspl1	T	A	5: 149,124,644 (GRCm39)	D20E	probably damaging	Het
Vmn2r19	G	A	6: 123,313,102 (GRCm39)	G724E	probably damaging	Het
Vmn2r63	T	A	7: 42,583,129 (GRCm39)	K29*	probably null	Het
Vwf	C	T	6: 125,619,744 (GRCm39)	A1474V	probably benign	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het
Zfp462	A	G	4: 55,013,689 (GRCm39)	H737R	probably damaging	Het
Zfp536	T	C	7: 37,180,244 (GRCm39)	D787G	probably damaging	Het
Zfp692	A	G	11: 58,205,053 (GRCm39)	H434R	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	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
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
R7022:Ints6	UTSW	14	62,951,786 (GRCm39)	missense	probably damaging	1.00
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'- GAGCCTTTTGAAGCCTCGACAAAC -3'
(R):5'- ACGGTGAATATCAAGCAGTTGGCAG -3'

Sequencing Primer
(F):5'- TGAAGCCTCGACAAACTGTTAG -3'
(R):5'- CTGAGCTAATCGTGTCTTTAAGC -3'

Posted On

2013-06-11