Mutagenetix > Incidental Mutation

Incidental Mutation 'R8282:Ints9'

638272

Institutional Source

Beutler Lab

Gene Symbol

Ints9

Ensembl Gene

ENSMUSG00000021975

Gene Name

integrator complex subunit 9

Synonyms

D14Ertd231e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64950045-65039832 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65007308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 213 (M213K)

Ref Sequence

ENSEMBL: ENSMUSP00000045552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043914]

AlphaFold

Q8K114

Predicted Effect

probably benign
Transcript: ENSMUST00000043914
AA Change: M213K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: M213K

Domain	Start	End	E-Value	Type
Pfam:Lactamase_B_6	91	289	1.2e-17	PFAM
Beta-Casp	334	462	7.65e-16	SMART
low complexity region	583	596	N/A	INTRINSIC
low complexity region	672	682	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6330408A02Rik	T	C	7: 13,261,610	M207V	probably benign	Het
Adcy10	T	A	1: 165,510,337	D173E	probably benign	Het
Ahctf1	T	C	1: 179,777,806	D721G	possibly damaging	Het
Allc	T	C	12: 28,557,357	T299A	probably damaging	Het
Ankrd55	T	A	13: 112,323,041		probably benign	Het
Axl	C	T	7: 25,763,954	D633N	probably benign	Het
Brf2	G	T	8: 27,124,593	R30S		Het
Bsn	A	G	9: 108,107,691	S283P	possibly damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ces1d	A	T	8: 93,186,112	S233T	possibly damaging	Het
Chst15	T	A	7: 132,270,150	H134L	probably benign	Het
Col14a1	A	G	15: 55,420,880	T846A	unknown	Het
Cwh43	A	T	5: 73,434,229	D555V	probably damaging	Het
Cyld	C	A	8: 88,705,415	P14T	probably benign	Het
Dctn1	G	A	6: 83,199,756	R1264H	possibly damaging	Het
Dkk3	T	A	7: 112,118,282	S327C	probably damaging	Het
Dnmbp	T	G	19: 43,890,566	H22P	unknown	Het
Fabp4	T	A	3: 10,205,282	T103S	probably benign	Het
Fam129b	A	G	2: 32,919,017	E205G	probably benign	Het
Fam43a	T	C	16: 30,601,288	L230P	probably damaging	Het
Fam46c	A	G	3: 100,473,011	V143A	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 76,002,775		probably benign	Het
Fank1	T	A	7: 133,876,764	Y186N	probably damaging	Het
Fbxo8	G	A	8: 56,591,520	R286K	possibly damaging	Het
Fmnl2	G	A	2: 53,107,666		probably null	Het
Gli2	T	A	1: 118,837,971	S817C	probably damaging	Het
Gm10110	C	T	14: 89,898,241	V76M	noncoding transcript	Het
Gm13212	A	T	4: 145,622,977	D328V	possibly damaging	Het
Gm4981	T	G	10: 58,236,326	Q22P	possibly damaging	Het
Gstt2	C	G	10: 75,832,457	A155P	probably benign	Het
Jak1	G	A	4: 101,179,541	R301*	probably null	Het
Kdsr	T	C	1: 106,724,997	T302A	probably benign	Het
Khsrp	T	C	17: 57,024,123	E460G	probably damaging	Het
Larp1b	G	A	3: 41,036,810	R193H	probably damaging	Het
Nedd4l	A	G	18: 65,191,489	K487R	probably damaging	Het
Nwd1	T	A	8: 72,704,952	S1193T	probably damaging	Het
Olfr1122	A	T	2: 87,388,508	T268S	probably benign	Het
Olfr195	T	A	16: 59,149,166	C105*	probably null	Het
Olfr921	G	A	9: 38,775,281	V9M	noncoding transcript	Het
Padi1	T	C	4: 140,814,703	H636R	probably damaging	Het
Pdilt	A	G	7: 119,498,070	I266T	probably damaging	Het
Rell2	A	T	18: 37,957,612	Q114L	probably benign	Het
Rfc1	A	G	5: 65,268,946		probably null	Het
Rpia	T	C	6: 70,771,018	N265D	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGCGGCGG	7: 97,579,920		probably null	Het
Samd12	T	C	15: 53,860,249	D16G	probably damaging	Het
Slc25a54	T	C	3: 109,098,689		probably null	Het
Slc6a3	T	A	13: 73,557,081	D230E	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Synpo2l	A	G	14: 20,661,136	V472A	probably benign	Het
Taf6l	A	G	19: 8,773,350	I120T	possibly damaging	Het
Trappc11	T	C	8: 47,516,589	D328G	probably damaging	Het
Trp53bp1	A	G	2: 121,199,042	S1836P	probably damaging	Het
Ugt2b37	G	A	5: 87,254,581	L64F	probably benign	Het
Vmn2r56	A	T	7: 12,715,674	Y212*	probably null	Het
Vps54	T	A	11: 21,300,464		probably benign	Het
Zfp648	T	A	1: 154,204,789	H231Q	probably benign	Het
Zscan4d	T	A	7: 11,162,442	T334S	possibly damaging	Het

Other mutations in Ints9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Ints9	APN	14	65037421	missense	probably benign	0.00
IGL02374:Ints9	APN	14	65039333	missense	probably benign	0.00
IGL02728:Ints9	APN	14	64993008	missense	probably damaging	1.00
IGL02992:Ints9	APN	14	64980164	missense	probably benign	0.08
IGL03151:Ints9	APN	14	65032340	missense	possibly damaging	0.86
R0437:Ints9	UTSW	14	64986369	splice site	probably benign
R0582:Ints9	UTSW	14	64980149	missense	probably damaging	1.00
R1525:Ints9	UTSW	14	64995011	missense	probably benign	0.05
R1569:Ints9	UTSW	14	64980122	missense	possibly damaging	0.91
R1835:Ints9	UTSW	14	65032256	missense	probably damaging	1.00
R1839:Ints9	UTSW	14	65016530	missense	probably damaging	1.00
R1862:Ints9	UTSW	14	65026413	missense	probably benign
R1892:Ints9	UTSW	14	65020423	missense	probably benign	0.08
R2146:Ints9	UTSW	14	64986343	missense	possibly damaging	0.71
R2285:Ints9	UTSW	14	65007997	missense	possibly damaging	0.61
R3015:Ints9	UTSW	14	64950278	missense	probably benign	0.00
R4133:Ints9	UTSW	14	64990554	missense	probably benign
R4180:Ints9	UTSW	14	64992981	missense	probably damaging	1.00
R4509:Ints9	UTSW	14	65028932	missense	possibly damaging	0.96
R4510:Ints9	UTSW	14	65028932	missense	possibly damaging	0.96
R4511:Ints9	UTSW	14	65028932	missense	possibly damaging	0.96
R4608:Ints9	UTSW	14	65032280	missense	possibly damaging	0.82
R5023:Ints9	UTSW	14	64980228	missense	probably damaging	1.00
R5117:Ints9	UTSW	14	64993091	nonsense	probably null
R5261:Ints9	UTSW	14	65008072	missense	probably benign	0.25
R5582:Ints9	UTSW	14	65028896	missense	possibly damaging	0.83
R5990:Ints9	UTSW	14	65039328	missense	probably damaging	1.00
R6009:Ints9	UTSW	14	65008082	missense	probably benign	0.43
R6241:Ints9	UTSW	14	64980210	missense	possibly damaging	0.90
R6351:Ints9	UTSW	14	64993007	missense	probably damaging	0.98
R6821:Ints9	UTSW	14	65037458	missense	probably benign	0.20
R7422:Ints9	UTSW	14	65032298	missense	possibly damaging	0.93
R7442:Ints9	UTSW	14	64995064	nonsense	probably null
R7475:Ints9	UTSW	14	65026465	missense	probably null	0.23
R8183:Ints9	UTSW	14	65036453	missense	probably damaging	0.98
R8223:Ints9	UTSW	14	65020360	missense	possibly damaging	0.94
R8314:Ints9	UTSW	14	65029030	missense	probably damaging	1.00
R8341:Ints9	UTSW	14	65036414	missense	probably benign	0.14
R8548:Ints9	UTSW	14	65032321	missense	probably benign	0.39
R9356:Ints9	UTSW	14	65032321	missense	probably benign	0.39
R9434:Ints9	UTSW	14	65008057	missense	probably benign	0.00
Z1176:Ints9	UTSW	14	65037454	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GACTGGACTGTGGGGATTATCAG -3'
(R):5'- AATCTGCCTGCATTCTTCCTGG -3'

Sequencing Primer
(F):5'- CTCACAGTAAGAGTCCTGGGATTAC -3'
(R):5'- TGGCGCTCACACAAAGG -3'

Posted On

2020-07-28