Mutagenetix > Incidental Mutation

Incidental Mutation 'R8314:Ints9'

641592

Institutional Source

Beutler Lab

Gene Symbol

Ints9

Ensembl Gene

ENSMUSG00000021975

Gene Name

integrator complex subunit 9

Synonyms

D14Ertd231e

MMRRC Submission

067719-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64950045-65039832 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65029030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 444 (S444P)

Ref Sequence

ENSEMBL: ENSMUSP00000045552 (fasta)

Gene Model

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

AlphaFold

Q8K114

Predicted Effect

probably damaging
Transcript: ENSMUST00000043914
AA Change: S444P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: S444P

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

100% (67/67)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	A	9: 122,948,928 (GRCm38)	T84S	probably benign	Het
4930533K18Rik	A	G	10: 70,875,276 (GRCm38)	T76A	noncoding transcript	Het
Adgrl1	C	T	8: 83,938,389 (GRCm38)	T1235I	probably damaging	Het
Ak4	C	T	4: 101,463,585 (GRCm38)	T197M	possibly damaging	Het
Alkal2	G	T	12: 30,884,851 (GRCm38)	G23V	probably damaging	Het
Alox12e	T	C	11: 70,316,172 (GRCm38)	M603V	possibly damaging	Het
Ap3d1	A	T	10: 80,723,539 (GRCm38)	I267N	possibly damaging	Het
Arhgef2	T	A	3: 88,621,293 (GRCm38)	I12N	probably benign	Het
Asnsd1	A	T	1: 53,346,655 (GRCm38)	M520K	probably damaging	Het
B3galt5	T	C	16: 96,315,449 (GRCm38)	L94P	probably damaging	Het
Birc2	T	C	9: 7,872,941 (GRCm38)		probably benign	Het
Cd177	T	C	7: 24,750,588 (GRCm38)	S541G	probably benign	Het
Cdh8	T	C	8: 99,171,379 (GRCm38)	D434G	probably damaging	Het
Cdkn3	A	T	14: 46,769,873 (GRCm38)		silent	Het
Ciita	A	T	16: 10,510,988 (GRCm38)	R379W	probably damaging	Het
Cntrl	T	A	2: 35,175,143 (GRCm38)	M2153K	probably benign	Het
Csmd1	A	T	8: 16,158,244 (GRCm38)	D1232E	probably benign	Het
Cyp4a30b	A	C	4: 115,458,338 (GRCm38)	H252P	probably benign	Het
Dad1	G	A	14: 54,253,812 (GRCm38)	R11W	probably damaging	Het
Ddit3	A	G	10: 127,295,721 (GRCm38)		probably null	Het
Dusp22	G	A	13: 30,708,931 (GRCm38)		probably benign	Het
Dzank1	A	G	2: 144,502,958 (GRCm38)	L293P	probably damaging	Het
Edf1	A	G	2: 25,557,965 (GRCm38)	D5G	probably damaging	Het
Entrep3	T	C	3: 89,188,146 (GRCm38)		probably null	Het
Ep400	T	A	5: 110,755,753 (GRCm38)	M327L	unknown	Het
Fam135a	A	T	1: 24,021,921 (GRCm38)	H1341Q	possibly damaging	Het
Fbxl3	C	T	14: 103,089,440 (GRCm38)	V169I	probably benign	Het
Gm4787	A	G	12: 81,379,135 (GRCm38)	L83P	probably damaging	Het
Habp4	A	G	13: 64,184,751 (GRCm38)	E392G	probably damaging	Het
Hspg2	C	A	4: 137,539,675 (GRCm38)	P1997Q	probably benign	Het
Kif18b	G	A	11: 102,913,074 (GRCm38)	S420L	probably benign	Het
Klhl17	T	A	4: 156,234,013 (GRCm38)	M51L	probably benign	Het
Kmt2b	C	T	7: 30,578,922 (GRCm38)	E1555K	probably damaging	Het
Malrd1	T	A	2: 15,752,832 (GRCm38)	D972E	unknown	Het
Mapk8ip3	A	T	17: 24,901,774 (GRCm38)	S805R	probably benign	Het
Mmp13	G	A	9: 7,272,931 (GRCm38)	C97Y	probably damaging	Het
Moxd1	T	A	10: 24,252,540 (GRCm38)	N163K	possibly damaging	Het
Nbea	T	C	3: 56,009,251 (GRCm38)	I863V	probably damaging	Het
Nectin4	A	G	1: 171,384,727 (GRCm38)	T298A	probably benign	Het
Net1	T	C	13: 3,912,672 (GRCm38)		probably benign	Het
Ntn1	T	C	11: 68,385,624 (GRCm38)	D166G	probably damaging	Het
Olfr391-ps	T	G	11: 73,799,742 (GRCm38)	N5T	noncoding transcript	Het
Opa3	C	A	7: 19,245,015 (GRCm38)	A135E	possibly damaging	Het
Or4c3d	T	C	2: 90,052,097 (GRCm38)	T76A	probably benign	Het
Or51v14	T	C	7: 103,612,047 (GRCm38)	Q102R	probably damaging	Het
Or5w14	A	G	2: 87,711,202 (GRCm38)	F235L	probably benign	Het
Or8g30	A	G	9: 39,319,305 (GRCm38)	F103S	probably damaging	Het
Osbpl5	T	C	7: 143,695,096 (GRCm38)	I608V	probably benign	Het
Phc1	A	C	6: 122,320,978 (GRCm38)	S782R	unknown	Het
Phf8-ps	C	A	17: 33,067,064 (GRCm38)	A255S	probably benign	Het
Pip5k1b	T	A	19: 24,355,199 (GRCm38)	T374S	probably benign	Het
Prkaa1	A	G	15: 5,178,873 (GRCm38)	S541G	probably damaging	Het
Ptpn20	A	G	14: 33,622,547 (GRCm38)	N143D	possibly damaging	Het
Rabep1	A	G	11: 70,893,660 (GRCm38)	D207G	possibly damaging	Het
Rbbp8	G	A	18: 11,720,625 (GRCm38)	M296I	probably benign	Het
Recql4	C	A	15: 76,710,180 (GRCm38)	R46L	probably damaging	Het
Scgb2b18	T	C	7: 33,173,157 (GRCm38)	I74M	probably benign	Het
Shc4	A	G	2: 125,655,616 (GRCm38)	I391T	possibly damaging	Het
Slc38a4	A	G	15: 97,010,309 (GRCm38)	F184L	probably benign	Het
Slc7a6	A	G	8: 106,168,958 (GRCm38)		probably benign	Het
Smim13	G	T	13: 41,272,634 (GRCm38)	G49*	probably null	Het
Tbc1d19	A	G	5: 53,897,047 (GRCm38)	D459G	probably damaging	Het
Tnpo1	T	C	13: 98,884,625 (GRCm38)	N82S	possibly damaging	Het
Tpp2	G	A	1: 43,934,227 (GRCm38)	V47I	probably benign	Het
Umodl1	G	T	17: 30,984,832 (GRCm38)	A540S	probably damaging	Het
Vmn2r83	G	A	10: 79,481,479 (GRCm38)	V519I	possibly damaging	Het
Zfp641	T	C	15: 98,290,583 (GRCm38)	I139V	probably damaging	Het
Zfyve21	A	T	12: 111,823,281 (GRCm38)	I60F	probably benign	Het

Other mutations in Ints9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Ints9	APN	14	65,037,421 (GRCm38)	missense	probably benign	0.00
IGL02374:Ints9	APN	14	65,039,333 (GRCm38)	missense	probably benign	0.00
IGL02728:Ints9	APN	14	64,993,008 (GRCm38)	missense	probably damaging	1.00
IGL02992:Ints9	APN	14	64,980,164 (GRCm38)	missense	probably benign	0.08
IGL03151:Ints9	APN	14	65,032,340 (GRCm38)	missense	possibly damaging	0.86
R0437:Ints9	UTSW	14	64,986,369 (GRCm38)	splice site	probably benign
R0582:Ints9	UTSW	14	64,980,149 (GRCm38)	missense	probably damaging	1.00
R1525:Ints9	UTSW	14	64,995,011 (GRCm38)	missense	probably benign	0.05
R1569:Ints9	UTSW	14	64,980,122 (GRCm38)	missense	possibly damaging	0.91
R1835:Ints9	UTSW	14	65,032,256 (GRCm38)	missense	probably damaging	1.00
R1839:Ints9	UTSW	14	65,016,530 (GRCm38)	missense	probably damaging	1.00
R1862:Ints9	UTSW	14	65,026,413 (GRCm38)	missense	probably benign
R1892:Ints9	UTSW	14	65,020,423 (GRCm38)	missense	probably benign	0.08
R2146:Ints9	UTSW	14	64,986,343 (GRCm38)	missense	possibly damaging	0.71
R2285:Ints9	UTSW	14	65,007,997 (GRCm38)	missense	possibly damaging	0.61
R3015:Ints9	UTSW	14	64,950,278 (GRCm38)	missense	probably benign	0.00
R4133:Ints9	UTSW	14	64,990,554 (GRCm38)	missense	probably benign
R4180:Ints9	UTSW	14	64,992,981 (GRCm38)	missense	probably damaging	1.00
R4509:Ints9	UTSW	14	65,028,932 (GRCm38)	missense	possibly damaging	0.96
R4510:Ints9	UTSW	14	65,028,932 (GRCm38)	missense	possibly damaging	0.96
R4511:Ints9	UTSW	14	65,028,932 (GRCm38)	missense	possibly damaging	0.96
R4608:Ints9	UTSW	14	65,032,280 (GRCm38)	missense	possibly damaging	0.82
R5023:Ints9	UTSW	14	64,980,228 (GRCm38)	missense	probably damaging	1.00
R5117:Ints9	UTSW	14	64,993,091 (GRCm38)	nonsense	probably null
R5261:Ints9	UTSW	14	65,008,072 (GRCm38)	missense	probably benign	0.25
R5582:Ints9	UTSW	14	65,028,896 (GRCm38)	missense	possibly damaging	0.83
R5990:Ints9	UTSW	14	65,039,328 (GRCm38)	missense	probably damaging	1.00
R6009:Ints9	UTSW	14	65,008,082 (GRCm38)	missense	probably benign	0.43
R6241:Ints9	UTSW	14	64,980,210 (GRCm38)	missense	possibly damaging	0.90
R6351:Ints9	UTSW	14	64,993,007 (GRCm38)	missense	probably damaging	0.98
R6821:Ints9	UTSW	14	65,037,458 (GRCm38)	missense	probably benign	0.20
R7422:Ints9	UTSW	14	65,032,298 (GRCm38)	missense	possibly damaging	0.93
R7442:Ints9	UTSW	14	64,995,064 (GRCm38)	nonsense	probably null
R7475:Ints9	UTSW	14	65,026,465 (GRCm38)	missense	probably null	0.23
R8183:Ints9	UTSW	14	65,036,453 (GRCm38)	missense	probably damaging	0.98
R8223:Ints9	UTSW	14	65,020,360 (GRCm38)	missense	possibly damaging	0.94
R8282:Ints9	UTSW	14	65,007,308 (GRCm38)	missense	probably benign	0.00
R8341:Ints9	UTSW	14	65,036,414 (GRCm38)	missense	probably benign	0.14
R8548:Ints9	UTSW	14	65,032,321 (GRCm38)	missense	probably benign	0.39
R9356:Ints9	UTSW	14	65,032,321 (GRCm38)	missense	probably benign	0.39
R9434:Ints9	UTSW	14	65,008,057 (GRCm38)	missense	probably benign	0.00
Z1176:Ints9	UTSW	14	65,037,454 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTCATTTCTCCAGCACAGC -3'
(R):5'- TGATCAACAGTTGCCCAACATGG -3'

Sequencing Primer
(F):5'- AGCACAGCTGGGTTCCG -3'
(R):5'- AGTTTTGGAGACAGGGTGCTC -3'

Posted On

2020-07-28