Mutagenetix > Incidental Mutation

Incidental Mutation 'R8265:Ints1'

639670

Institutional Source

Beutler Lab

Gene Symbol

Ints1

Ensembl Gene

ENSMUSG00000029547

Gene Name

integrator complex subunit 1

Synonyms

1110015K06Rik

MMRRC Submission

067690-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8265 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139737037-139761429 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 139757919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Histidine at position 260 (D260H)

Ref Sequence

ENSEMBL: ENSMUSP00000143789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072607] [ENSMUST00000196864] [ENSMUST00000200393]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000072406
Gene: ENSMUSG00000029547
AA Change: D260H

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: ENSMUST00000196864

SMART Domains

Protein: ENSMUSP00000142362
Gene: ENSMUSG00000029547

Domain	Start	End	E-Value	Type
low complexity region	61	75	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000200393
AA Change: D260H

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

SMART Domains

Protein: ENSMUSP00000143789
Gene: ENSMUSG00000029547
AA Change: D260H

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	G	19: 3,766,568 (GRCm39)	T52A	probably benign	Het
Adam9	T	C	8: 25,457,202 (GRCm39)	Y642C	probably damaging	Het
Atp2c1	T	C	9: 105,347,315 (GRCm39)	E47G	probably benign	Het
Btbd9	T	A	17: 30,553,278 (GRCm39)	T395S	possibly damaging	Het
Cacna1s	G	A	1: 136,020,364 (GRCm39)	W800*	probably null	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Ceacam20	G	A	7: 19,708,159 (GRCm39)	V255M	probably damaging	Het
Cit	C	A	5: 116,126,236 (GRCm39)	L1610M	probably damaging	Het
Cped1	A	G	6: 22,222,426 (GRCm39)	T729A	probably benign	Het
Ddx19b	A	T	8: 111,735,824 (GRCm39)	V407E	probably damaging	Het
Dst	A	G	1: 34,217,603 (GRCm39)	K1348E	probably benign	Het
E2f4	T	A	8: 106,027,977 (GRCm39)	S302T	probably damaging	Het
Eif1	A	G	11: 100,211,299 (GRCm39)	E31G	probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Herc1	C	T	9: 66,293,986 (GRCm39)	Q443*	probably null	Het
Hmgxb3	A	G	18: 61,300,410 (GRCm39)	V222A	possibly damaging	Het
Hnrnpu	A	T	1: 178,159,725 (GRCm39)	I452N	unknown	Het
Kdm5a	T	A	6: 120,383,557 (GRCm39)	M766K	possibly damaging	Het
Lama4	G	A	10: 38,981,200 (GRCm39)	C1720Y	probably damaging	Het
Mei1	C	A	15: 81,987,508 (GRCm39)	Y433*	probably null	Het
Milr1	A	G	11: 106,654,711 (GRCm39)	K188E	probably benign	Het
Myo7a	A	G	7: 97,734,604 (GRCm39)	F630S	probably benign	Het
Myoz2	A	G	3: 122,800,172 (GRCm39)	F219L	probably benign	Het
Nt5c1a	T	C	4: 123,107,953 (GRCm39)	V212A	possibly damaging	Het
Or51f1e	A	G	7: 102,747,304 (GRCm39)	T119A	probably benign	Het
Or51v14	A	T	7: 103,261,048 (GRCm39)	C171S	possibly damaging	Het
Or8b42	T	C	9: 38,342,469 (GRCm39)	V297A	probably damaging	Het
Pi16	A	G	17: 29,545,947 (GRCm39)	T242A	probably benign	Het
Pigw	C	A	11: 84,770,847 (GRCm39)		probably benign	Het
Pipox	T	A	11: 77,774,793 (GRCm39)	T97S	probably benign	Het
Plagl1	C	A	10: 13,004,625 (GRCm39)	A631E	unknown	Het
Poteg	T	A	8: 27,984,923 (GRCm39)	H427Q	possibly damaging	Het
Prdm14	A	G	1: 13,184,618 (GRCm39)	S518P	probably damaging	Het
Rabep2	A	G	7: 126,043,423 (GRCm39)	E441G	probably benign	Het
Rasal3	A	G	17: 32,614,794 (GRCm39)		probably null	Het
Rbm33	T	C	5: 28,599,322 (GRCm39)	V90A		Het
Sidt1	C	A	16: 44,088,250 (GRCm39)	R381M	possibly damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Srsf5	A	G	12: 80,994,110 (GRCm39)	D51G	possibly damaging	Het
Taar8a	T	A	10: 23,952,839 (GRCm39)	S148T	probably damaging	Het
Tmem59l	A	G	8: 70,938,426 (GRCm39)	S149P	probably damaging	Het
Trafd1	T	A	5: 121,511,340 (GRCm39)	I493F	possibly damaging	Het
Trrap	C	T	5: 144,722,344 (GRCm39)	S289L	possibly damaging	Het
Zfp267	T	C	3: 36,213,677 (GRCm39)		probably benign	Het
Zfp955a	C	T	17: 33,463,087 (GRCm39)	V15M	probably damaging	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
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
R9135:Ints1	UTSW	5	139,737,701 (GRCm39)	missense	possibly damaging	0.49
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'- AGACACCTCGGCATCTCTTACC -3'
(R):5'- TGTCTGTACTGGCCTGCAAC -3'

Sequencing Primer
(F):5'- GGCATCTCTTACCTGCACCAAG -3'
(R):5'- ACGAGAACTGGCCTGAGATCTTC -3'

Posted On

2020-07-28