Mutagenetix > Incidental Mutation

Incidental Mutation 'R9135:Ints1'

693910

Institutional Source

Beutler Lab

Gene Symbol

Ints1

Ensembl Gene

ENSMUSG00000029547

Gene Name

integrator complex subunit 1

Synonyms

1110015K06Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9135 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139737037-139761429 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 139737701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 2145 (N2145K)

Ref Sequence

ENSEMBL: ENSMUSP00000143789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072607] [ENSMUST00000197187] [ENSMUST00000200393]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: N2143K

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
low complexity region	88	102	N/A	INTRINSIC
Pfam:DUF3677	379	459	6.4e-37	PFAM
low complexity region	854	865	N/A	INTRINSIC
low complexity region	870	876	N/A	INTRINSIC
low complexity region	946	962	N/A	INTRINSIC
low complexity region	965	988	N/A	INTRINSIC
low complexity region	1034	1045	N/A	INTRINSIC
low complexity region	1058	1069	N/A	INTRINSIC
low complexity region	1347	1361	N/A	INTRINSIC
low complexity region	1405	1418	N/A	INTRINSIC
low complexity region	1615	1624	N/A	INTRINSIC
low complexity region	1763	1776	N/A	INTRINSIC
low complexity region	1840	1855	N/A	INTRINSIC
low complexity region	2062	2076	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197187

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200393
AA Change: N2145K

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: N2145K

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
low complexity region	88	102	N/A	INTRINSIC
Pfam:DUF3677	379	459	6.4e-37	PFAM
low complexity region	854	865	N/A	INTRINSIC
low complexity region	870	876	N/A	INTRINSIC
low complexity region	946	962	N/A	INTRINSIC
low complexity region	965	988	N/A	INTRINSIC
low complexity region	1034	1045	N/A	INTRINSIC
low complexity region	1058	1069	N/A	INTRINSIC
low complexity region	1347	1361	N/A	INTRINSIC
low complexity region	1405	1418	N/A	INTRINSIC
low complexity region	1615	1624	N/A	INTRINSIC
low complexity region	1763	1776	N/A	INTRINSIC
low complexity region	1840	1855	N/A	INTRINSIC
low complexity region	2062	2076	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at the blastocyst stage. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted, knock-out(1) Gene trapped(9)

Other mutations in this stock

Total: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Abi3bp	A	G	16: 56,417,173 (GRCm39)	D419G	probably benign	Het
Acoxl	A	T	2: 127,696,691 (GRCm39)		probably benign	Het
Acvr1	T	C	2: 58,352,983 (GRCm39)	T326A	possibly damaging	Het
Adgra2	T	C	8: 27,610,979 (GRCm39)	L976P	probably damaging	Het
Adora2b	A	G	11: 62,155,886 (GRCm39)		probably null	Het
Ak1	A	T	2: 32,521,182 (GRCm39)	Q117L	probably damaging	Het
Akr1c14	T	A	13: 4,128,029 (GRCm39)	D143E	probably damaging	Het
Ap4e1	A	T	2: 126,861,242 (GRCm39)	H127L	probably damaging	Het
Asxl3	T	A	18: 22,649,670 (GRCm39)	I553N	probably damaging	Het
Asxl3	T	A	18: 22,657,481 (GRCm39)	N1830K	possibly damaging	Het
Atp11a	G	A	8: 12,863,144 (GRCm39)	A108T	probably damaging	Het
Bag6	A	G	17: 35,362,437 (GRCm39)	T582A	unknown	Het
Bbs9	T	C	9: 22,490,005 (GRCm39)	S259P	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Bltp3a	T	A	17: 28,104,902 (GRCm39)	L532*	probably null	Het
Blvrb	T	C	7: 27,165,210 (GRCm39)	S177P	probably damaging	Het
C1s2	T	A	6: 124,602,642 (GRCm39)	D523V	probably benign	Het
Cacna2d1	C	T	5: 16,558,850 (GRCm39)	T736I	probably damaging	Het
Card9	T	C	2: 26,242,397 (GRCm39)	N513S	probably benign	Het
Casp2	A	G	6: 42,245,882 (GRCm39)	T180A	probably benign	Het
Cenpf	A	T	1: 189,404,746 (GRCm39)	L361Q	probably damaging	Het
Cnbd2	T	C	2: 156,217,488 (GRCm39)	I659T	probably damaging	Het
Cped1	A	T	6: 21,987,012 (GRCm39)	D68V	probably damaging	Het
Cxcr1	T	C	1: 74,231,099 (GRCm39)	I308V	probably benign	Het
Dad1	A	G	14: 54,491,163 (GRCm39)	L46P	probably damaging	Het
Defb23	G	A	2: 152,301,422 (GRCm39)	A50V	probably benign	Het
Dhx33	C	T	11: 70,877,992 (GRCm39)	A684T	probably damaging	Het
Dnai3	T	C	3: 145,772,589 (GRCm39)	T486A	probably benign	Het
Epb41l4a	T	A	18: 33,965,729 (GRCm39)	N366I	probably benign	Het
Erich3	A	G	3: 154,467,912 (GRCm39)	E788G		Het
Fam241b	T	C	10: 61,944,892 (GRCm39)	N35S	probably benign	Het
Fbxo24	T	A	5: 137,622,526 (GRCm39)	Q80L	probably benign	Het
Foxk1	T	G	5: 142,434,497 (GRCm39)	F254V	probably benign	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gm12886	T	C	4: 121,274,743 (GRCm39)	I46V	probably benign	Het
Gm20834	G	T	Y: 10,323,354 (GRCm39)	H27Q	probably damaging	Het
Gm2888	A	G	14: 3,032,106 (GRCm38)	N138S	probably damaging	Het
Gm5773	T	C	3: 93,681,179 (GRCm39)	C284R	possibly damaging	Het
Gprin3	A	T	6: 59,330,273 (GRCm39)	M678K	probably benign	Het
Grm7	T	C	6: 111,472,729 (GRCm39)	V856A	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Immt	C	T	6: 71,851,403 (GRCm39)	T588I	probably damaging	Het
Jade2	T	C	11: 51,715,951 (GRCm39)	D418G	probably benign	Het
Kdf1	T	C	4: 133,256,140 (GRCm39)	Y286H	probably damaging	Het
Kif18a	A	G	2: 109,171,506 (GRCm39)	Y861C	possibly damaging	Het
Lama2	T	A	10: 27,298,515 (GRCm39)	I194F	probably damaging	Het
Lhx8	A	G	3: 154,034,063 (GRCm39)	S33P	probably benign	Het
Lmo7	T	C	14: 102,118,297 (GRCm39)	I174T	probably damaging	Het
Lrfn2	A	T	17: 49,376,976 (GRCm39)	D19V	possibly damaging	Het
Lrrk1	A	T	7: 65,928,357 (GRCm39)	I1257N	probably damaging	Het
Malrd1	T	A	2: 15,802,516 (GRCm39)	H1076Q	unknown	Het
Map3k14	A	C	11: 103,128,364 (GRCm39)	M419R	probably damaging	Het
Mcm10	G	A	2: 5,011,372 (GRCm39)	R200C	probably benign	Het
Mertk	A	G	2: 128,604,035 (GRCm39)	N390D	probably benign	Het
Mitf	T	A	6: 97,990,680 (GRCm39)	I361N	probably damaging	Het
Mrgprb1	T	A	7: 48,097,046 (GRCm39)	I289F	possibly damaging	Het
Muc5ac	A	T	7: 141,352,218 (GRCm39)	D659V	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nphp3	T	G	9: 103,909,214 (GRCm39)	L808R	probably damaging	Het
Or14c42-ps1	G	A	7: 86,211,156 (GRCm39)	C72Y	unknown	Het
Or1e1	T	C	11: 73,245,316 (GRCm39)	S246P	probably damaging	Het
Or5an1	T	A	19: 12,260,808 (GRCm39)	L132Q	probably damaging	Het
Or5b113	T	A	19: 13,342,755 (GRCm39)	S254R	possibly damaging	Het
Pagr1a	T	C	7: 126,615,954 (GRCm39)	E47G	probably benign	Het
Papss2	G	T	19: 32,618,764 (GRCm39)	R274L	probably damaging	Het
Pcdhga10	C	A	18: 37,880,960 (GRCm39)	F240L	probably damaging	Het
Pcsk5	T	G	19: 17,563,472 (GRCm39)	E555A		Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Pgrmc2	T	A	3: 41,023,099 (GRCm39)	D206V	probably damaging	Het
Pkd1	T	C	17: 24,790,976 (GRCm39)	V1057A		Het
Plekha5	T	C	6: 140,480,239 (GRCm39)	I113T	probably damaging	Het
Prorp	T	A	12: 55,426,189 (GRCm39)	L513Q	probably damaging	Het
Prss32	C	T	17: 24,078,199 (GRCm39)	T295I	possibly damaging	Het
Ptprk	G	T	10: 28,456,413 (GRCm39)	V1072F	probably damaging	Het
Rasd2	T	A	8: 75,945,174 (GRCm39)	M1K	probably null	Het
Rhag	T	A	17: 41,139,302 (GRCm39)	M79K	probably damaging	Het
Rnf19a	C	A	15: 36,253,310 (GRCm39)		probably null	Het
Rnf213	G	T	11: 119,299,573 (GRCm39)	G101C		Het
Sap130	T	A	18: 31,780,116 (GRCm39)	D45E	probably benign	Het
Scel	T	A	14: 103,839,626 (GRCm39)	F510I	probably benign	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Shoc2	T	A	19: 53,976,310 (GRCm39)	S67T	probably benign	Het
Slc22a3	T	C	17: 12,645,619 (GRCm39)	I441V	possibly damaging	Het
Slfn5	A	G	11: 82,851,503 (GRCm39)	D600G	probably benign	Het
Smim7	G	A	8: 73,324,757 (GRCm39)	T10M	probably damaging	Het
Sntb2	A	T	8: 107,662,831 (GRCm39)	Q133L	possibly damaging	Het
Steap3	A	C	1: 120,162,048 (GRCm39)	M408R	probably benign	Het
Supt4a	T	C	11: 87,633,624 (GRCm39)	I60T	probably benign	Het
Swt1	A	C	1: 151,244,239 (GRCm39)	C899G	possibly damaging	Het
Taok3	A	G	5: 117,344,744 (GRCm39)	E157G	probably damaging	Het
Taok3	C	T	5: 117,379,245 (GRCm39)	L427F	possibly damaging	Het
Taok3	T	C	5: 117,379,168 (GRCm39)	V401A	probably benign	Het
Tcf25	A	G	8: 124,108,182 (GRCm39)	E79G	probably benign	Het
Tigit	G	A	16: 43,479,876 (GRCm39)	L140F	possibly damaging	Het
Tmem143	G	T	7: 45,546,802 (GRCm39)		probably benign	Het
Tmem151b	C	T	17: 45,856,355 (GRCm39)	V362M	possibly damaging	Het
Tmem230	A	G	2: 132,085,989 (GRCm39)	F58L	probably benign	Het
Trim25	T	C	11: 88,899,988 (GRCm39)	M245T	probably benign	Het
Trim36	A	C	18: 46,302,410 (GRCm39)	V546G	probably benign	Het
Triml1	T	C	8: 43,583,624 (GRCm39)	N326D	probably damaging	Het
Trp53bp2	T	C	1: 182,286,328 (GRCm39)	V1056A	probably damaging	Het
Trpa1	C	A	1: 14,952,435 (GRCm39)	M865I	probably damaging	Het
Ttbk1	A	T	17: 46,790,132 (GRCm39)	Y104*	probably null	Het
Tubg1	T	A	11: 101,014,257 (GRCm39)	H139Q	probably damaging	Het
Ufsp2	A	G	8: 46,447,050 (GRCm39)		probably null	Het
Usp47	A	T	7: 111,652,431 (GRCm39)	N36I	probably benign	Het
Vmn1r32	G	A	6: 66,530,120 (GRCm39)	R219*	probably null	Het
Vmn2r59	G	A	7: 41,693,125 (GRCm39)	P492S	probably benign	Het
Vmn2r59	G	C	7: 41,693,127 (GRCm39)	A491G		Het
Wdr76	T	C	2: 121,364,592 (GRCm39)	Y299H	probably damaging	Het
Wnt5a	C	T	14: 28,240,309 (GRCm39)	A153V	probably benign	Het
Zfp202	T	C	9: 40,120,237 (GRCm39)	V226A	possibly damaging	Het
Zfp219	C	T	14: 52,244,598 (GRCm39)	R527H	probably damaging	Het
Zfp408	A	T	2: 91,475,528 (GRCm39)	L542H	probably damaging	Het
Zfyve9	A	T	4: 108,539,386 (GRCm39)	C271*	probably null	Het

Other mutations in Ints1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Ints1	APN	5	139,757,437 (GRCm39)	missense	probably damaging	0.99
IGL01329:Ints1	APN	5	139,753,258 (GRCm39)	splice site	probably benign
IGL01414:Ints1	APN	5	139,744,253 (GRCm39)	missense	probably benign
IGL01612:Ints1	APN	5	139,742,047 (GRCm39)	missense	probably benign	0.17
IGL01726:Ints1	APN	5	139,754,166 (GRCm39)	splice site	probably benign
IGL01958:Ints1	APN	5	139,745,843 (GRCm39)	missense	possibly damaging	0.94
IGL02122:Ints1	APN	5	139,750,905 (GRCm39)	nonsense	probably null
IGL02149:Ints1	APN	5	139,737,715 (GRCm39)	missense	probably damaging	1.00
IGL02349:Ints1	APN	5	139,754,223 (GRCm39)	missense	probably damaging	0.96
IGL02557:Ints1	APN	5	139,757,392 (GRCm39)	missense	probably damaging	1.00
IGL02814:Ints1	APN	5	139,758,146 (GRCm39)	missense	possibly damaging	0.80
IGL02815:Ints1	APN	5	139,741,037 (GRCm39)	missense	probably damaging	0.96
IGL02825:Ints1	APN	5	139,750,494 (GRCm39)	missense	probably benign	0.32
IGL03000:Ints1	APN	5	139,752,261 (GRCm39)	missense	probably benign	0.01
IGL03164:Ints1	APN	5	139,738,490 (GRCm39)	missense	probably damaging	0.99
forgiving	UTSW	5	139,753,583 (GRCm39)	missense	probably damaging	0.99
restrained	UTSW	5	139,753,481 (GRCm39)	missense	possibly damaging	0.68
A9681:Ints1	UTSW	5	139,755,894 (GRCm39)	missense	possibly damaging	0.56
R0113:Ints1	UTSW	5	139,750,968 (GRCm39)	missense
R0193:Ints1	UTSW	5	139,737,485 (GRCm39)	missense	probably damaging	1.00
R0372:Ints1	UTSW	5	139,758,193 (GRCm39)	missense	probably damaging	1.00
R1129:Ints1	UTSW	5	139,744,226 (GRCm39)	missense	probably benign	0.00
R1290:Ints1	UTSW	5	139,757,165 (GRCm39)	nonsense	probably null
R1313:Ints1	UTSW	5	139,748,661 (GRCm39)	missense	probably benign
R1313:Ints1	UTSW	5	139,748,661 (GRCm39)	missense	probably benign
R1691:Ints1	UTSW	5	139,754,687 (GRCm39)	missense	probably damaging	1.00
R1708:Ints1	UTSW	5	139,748,594 (GRCm39)	missense	probably damaging	1.00
R1791:Ints1	UTSW	5	139,760,277 (GRCm39)	missense	probably benign	0.04
R2066:Ints1	UTSW	5	139,753,251 (GRCm39)	missense	probably benign	0.14
R2102:Ints1	UTSW	5	139,741,754 (GRCm39)	missense	possibly damaging	0.50
R2108:Ints1	UTSW	5	139,753,505 (GRCm39)	missense	probably damaging	1.00
R2238:Ints1	UTSW	5	139,750,955 (GRCm39)	missense	possibly damaging	0.95
R2426:Ints1	UTSW	5	139,757,569 (GRCm39)	critical splice donor site	probably null
R2913:Ints1	UTSW	5	139,743,668 (GRCm39)	missense	possibly damaging	0.91
R3896:Ints1	UTSW	5	139,743,399 (GRCm39)	nonsense	probably null
R4608:Ints1	UTSW	5	139,745,599 (GRCm39)	missense	probably benign	0.13
R4658:Ints1	UTSW	5	139,760,054 (GRCm39)	missense	possibly damaging	0.88
R4797:Ints1	UTSW	5	139,757,631 (GRCm39)	missense	possibly damaging	0.85
R4887:Ints1	UTSW	5	139,756,911 (GRCm39)	missense	possibly damaging	0.66
R4944:Ints1	UTSW	5	139,743,847 (GRCm39)	splice site	probably null
R4956:Ints1	UTSW	5	139,742,885 (GRCm39)	missense	probably damaging	1.00
R4976:Ints1	UTSW	5	139,738,566 (GRCm39)	missense	probably damaging	1.00
R5283:Ints1	UTSW	5	139,750,137 (GRCm39)	missense	probably damaging	1.00
R5354:Ints1	UTSW	5	139,752,183 (GRCm39)	critical splice donor site	probably null
R5496:Ints1	UTSW	5	139,740,953 (GRCm39)	missense	probably benign	0.07
R5517:Ints1	UTSW	5	139,738,542 (GRCm39)	missense	possibly damaging	0.86
R5696:Ints1	UTSW	5	139,740,744 (GRCm39)	missense	probably benign	0.00
R5766:Ints1	UTSW	5	139,757,900 (GRCm39)	missense	probably benign	0.33
R6359:Ints1	UTSW	5	139,741,972 (GRCm39)	missense	probably benign	0.09
R6753:Ints1	UTSW	5	139,750,930 (GRCm39)	missense	probably damaging	1.00
R6892:Ints1	UTSW	5	139,753,583 (GRCm39)	missense	probably damaging	0.99
R7009:Ints1	UTSW	5	139,754,217 (GRCm39)	missense	possibly damaging	0.83
R7047:Ints1	UTSW	5	139,744,226 (GRCm39)	nonsense	probably null
R7216:Ints1	UTSW	5	139,754,739 (GRCm39)	missense	possibly damaging	0.91
R7220:Ints1	UTSW	5	139,747,828 (GRCm39)	missense	possibly damaging	0.91
R7263:Ints1	UTSW	5	139,749,834 (GRCm39)	missense	possibly damaging	0.50
R7291:Ints1	UTSW	5	139,750,829 (GRCm39)	missense	probably damaging	1.00
R7319:Ints1	UTSW	5	139,746,520 (GRCm39)	missense	probably damaging	1.00
R7411:Ints1	UTSW	5	139,750,015 (GRCm39)	missense	possibly damaging	0.54
R7497:Ints1	UTSW	5	139,754,731 (GRCm39)	missense	probably damaging	0.99
R7529:Ints1	UTSW	5	139,753,481 (GRCm39)	missense	possibly damaging	0.68
R7710:Ints1	UTSW	5	139,756,840 (GRCm39)	missense	probably benign	0.17
R7816:Ints1	UTSW	5	139,757,134 (GRCm39)	missense	possibly damaging	0.90
R7819:Ints1	UTSW	5	139,746,522 (GRCm39)	missense	probably damaging	1.00
R7992:Ints1	UTSW	5	139,742,282 (GRCm39)	missense	probably damaging	1.00
R8260:Ints1	UTSW	5	139,750,968 (GRCm39)	missense
R8265:Ints1	UTSW	5	139,757,919 (GRCm39)	missense	probably damaging	1.00
R8782:Ints1	UTSW	5	139,744,952 (GRCm39)	missense	probably benign	0.28
R9016:Ints1	UTSW	5	139,744,326 (GRCm39)	missense	probably benign
R9053:Ints1	UTSW	5	139,747,822 (GRCm39)	missense	possibly damaging	0.55
R9056:Ints1	UTSW	5	139,760,041 (GRCm39)	critical splice donor site	probably null
R9080:Ints1	UTSW	5	139,739,300 (GRCm39)	missense	probably benign	0.00
R9086:Ints1	UTSW	5	139,743,947 (GRCm39)	missense	probably benign
R9122:Ints1	UTSW	5	139,745,930 (GRCm39)	missense	possibly damaging	0.83
R9134:Ints1	UTSW	5	139,743,351 (GRCm39)	missense	probably benign
R9169:Ints1	UTSW	5	139,748,586 (GRCm39)	missense	probably benign
R9280:Ints1	UTSW	5	139,750,469 (GRCm39)	missense	probably damaging	1.00
R9458:Ints1	UTSW	5	139,743,407 (GRCm39)	missense	probably damaging	1.00
R9666:Ints1	UTSW	5	139,748,217 (GRCm39)	missense	probably benign	0.00
Z1177:Ints1	UTSW	5	139,757,393 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- TCAAAGTCTCTGCTGCCCAG -3'
(R):5'- TAAAGGGCAGTACTCACCCCTC -3'

Sequencing Primer
(F):5'- CCCAGGCAGTACATGAAGGTG -3'
(R):5'- TCTGCCATGCAAGCGAAG -3'

Posted On

2022-01-20