Mutagenetix > Incidental Mutation

Incidental Mutation 'R4903:Ints6'

377983

Institutional Source

Beutler Lab

Gene Symbol

Ints6

Ensembl Gene

ENSMUSG00000035161

Gene Name

integrator complex subunit 6

Synonyms

Notch2l, DICE1, Ddx26, 2900075H24Rik

MMRRC Submission

042506-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4903 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62913779-62998618 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62939911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 593 (L593P)

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: L593P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086788
Gene: ENSMUSG00000035161
AA Change: L593P

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: L593P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224891

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225700

Meta Mutation Damage Score

0.4215

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,645,119 (GRCm39)	E335*	probably null	Het
Abca9	A	G	11: 110,037,827 (GRCm39)	Y508H	probably damaging	Het
Abcc9	A	T	6: 142,546,691 (GRCm39)	L1347H	probably damaging	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Adam5	T	C	8: 25,276,248 (GRCm39)	Y473C	probably damaging	Het
Agbl2	A	G	2: 90,627,817 (GRCm39)	I207M	possibly damaging	Het
Akna	C	A	4: 63,292,274 (GRCm39)	R1130S	probably damaging	Het
Alg12	A	T	15: 88,698,743 (GRCm39)	I194N	probably damaging	Het
Alk	T	A	17: 72,176,558 (GRCm39)	H1582L	probably damaging	Het
Atn1	G	C	6: 124,720,220 (GRCm39)		probably benign	Het
Carhsp1	T	C	16: 8,478,864 (GRCm39)	T130A	probably damaging	Het
Chrna3	T	C	9: 54,922,810 (GRCm39)	T333A	probably benign	Het
Ctsr	T	A	13: 61,310,945 (GRCm39)	I34L	probably benign	Het
Cxcl16	A	G	11: 70,346,519 (GRCm39)	V208A	probably benign	Het
Dars2	G	C	1: 160,878,941 (GRCm39)	P362R	probably benign	Het
Dnah10	A	G	5: 124,894,812 (GRCm39)	E3459G	probably damaging	Het
Dus2	G	A	8: 106,771,437 (GRCm39)	D188N	probably benign	Het
Ece2	C	T	16: 20,449,972 (GRCm39)	R189*	probably null	Het
Egfr	A	T	11: 16,858,949 (GRCm39)	D976V	probably damaging	Het
Egr2	T	A	10: 67,374,163 (GRCm39)	I51N	probably damaging	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
G2e3	A	G	12: 51,418,413 (GRCm39)	I603V	probably benign	Het
Gm11564	A	C	11: 99,705,858 (GRCm39)	C191G	unknown	Het
Gpatch8	A	G	11: 102,370,959 (GRCm39)	S860P	unknown	Het
Gprin1	C	G	13: 54,885,742 (GRCm39)	W844S	probably damaging	Het
Hhipl2	T	A	1: 183,207,698 (GRCm39)	Y252*	probably null	Het
Hormad1	T	A	3: 95,492,531 (GRCm39)		probably null	Het
Hrg	A	G	16: 22,779,901 (GRCm39)		probably benign	Het
Hsh2d	C	T	8: 72,947,372 (GRCm39)	A23V	probably benign	Het
Jak2	A	G	19: 29,252,436 (GRCm39)	S129G	probably benign	Het
Kif1a	C	T	1: 92,949,456 (GRCm39)	E1579K	probably damaging	Het
Lhcgr	A	T	17: 89,049,789 (GRCm39)	I579N	probably damaging	Het
Lrig3	A	T	10: 125,832,482 (GRCm39)		probably null	Het
Man2c1	C	A	9: 57,046,240 (GRCm39)	Q465K	probably benign	Het
Map3k5	T	A	10: 19,994,235 (GRCm39)	L1043Q	probably null	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mapk8ip3	A	G	17: 25,120,183 (GRCm39)	S946P	probably benign	Het
Mrpl50	T	C	4: 49,514,488 (GRCm39)	Y61C	probably damaging	Het
Myf5	A	T	10: 107,321,733 (GRCm39)	C20*	probably null	Het
Nek11	T	C	9: 105,191,921 (GRCm39)	K163R	possibly damaging	Het
Or1l4b	A	T	2: 37,036,383 (GRCm39)	H53L	probably benign	Het
Or4c105	A	T	2: 88,648,342 (GRCm39)	I276L	probably benign	Het
Pcdhga9	C	A	18: 37,872,058 (GRCm39)	T629K	probably damaging	Het
Pglyrp1	A	G	7: 18,624,128 (GRCm39)	N137S	probably benign	Het
Pip5k1a	T	C	3: 94,978,094 (GRCm39)	I275V	probably benign	Het
Pitpnm2	T	A	5: 124,290,668 (GRCm39)	Y6F	probably damaging	Het
Pkd1	T	G	17: 24,790,976 (GRCm39)	V1057G	probably benign	Het
Plcb3	C	A	19: 6,933,211 (GRCm39)	R970L	probably damaging	Het
Plekha5	T	A	6: 140,532,093 (GRCm39)	M586K	probably damaging	Het
Ppp4r4	T	A	12: 103,557,030 (GRCm39)		probably null	Het
Rasal3	C	T	17: 32,616,357 (GRCm39)	C278Y	probably damaging	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Sema3d	A	G	5: 12,613,125 (GRCm39)	K401E	probably benign	Het
Sema7a	T	C	9: 57,862,378 (GRCm39)	Y194H	probably benign	Het
Senp5	A	T	16: 31,802,117 (GRCm39)	Y585N	probably damaging	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Shbg	C	T	11: 69,505,912 (GRCm39)	S365N	probably benign	Het
Slc39a6	A	T	18: 24,730,925 (GRCm39)	S65T	probably damaging	Het
Stk3	T	C	15: 34,959,212 (GRCm39)	E320G	probably damaging	Het
Syk	T	A	13: 52,765,117 (GRCm39)	H81Q	probably damaging	Het
Tet1	A	G	10: 62,658,437 (GRCm39)	W1470R	probably damaging	Het
Thada	C	A	17: 84,559,828 (GRCm39)	V1450L	possibly damaging	Het
Tmem241	A	G	18: 12,237,176 (GRCm39)	S87P	probably damaging	Het
Trdv1	T	A	14: 54,119,375 (GRCm39)		probably benign	Het
Trim40	T	C	17: 37,194,117 (GRCm39)	E192G	possibly damaging	Het
Trip11	A	T	12: 101,853,065 (GRCm39)		probably null	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Tshr	A	G	12: 91,367,962 (GRCm39)	D35G	probably benign	Het
Tssc4	T	C	7: 142,624,322 (GRCm39)	V210A	probably damaging	Het
Ttk	T	A	9: 83,747,201 (GRCm39)	I680N	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl4a	T	C	18: 80,250,493 (GRCm39)	F30L	probably damaging	Het
Ubac2	G	T	14: 122,231,650 (GRCm39)	C192F	probably benign	Het
Vmn1r12	A	G	6: 57,136,502 (GRCm39)	T156A	possibly damaging	Het
Zfp747l1	T	A	7: 126,984,578 (GRCm39)	T175S	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
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'- ACTTTAATGAGATATTCCTCCCCAA -3'
(R):5'- GACTAAAGCCTTCTCATCATTACAC -3'

Sequencing Primer
(F):5'- TATTCCTCCCCAAAAATAACTTAAGC -3'
(R):5'- TTACACGTCTTTATTCATGTGCTAG -3'

Posted On

2016-04-15