Mutagenetix > Incidental Mutation

Incidental Mutation 'R7442:Ints9'

577046

Institutional Source

Beutler Lab

Gene Symbol

Ints9

Ensembl Gene

ENSMUSG00000021975

Gene Name

integrator complex subunit 9

Synonyms

D14Ertd231e

MMRRC Submission

045518-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64950045-65039832 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 64995064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 191 (Q191*)

Ref Sequence

ENSEMBL: ENSMUSP00000045552 (fasta)

Gene Model

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

AlphaFold

Q8K114

Predicted Effect

probably null
Transcript: ENSMUST00000043914
AA Change: Q191*

SMART Domains

Protein: ENSMUSP00000045552
Gene: ENSMUSG00000021975
AA Change: Q191*

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,220,290 (GRCm38)	I109T	probably damaging	Het
A430033K04Rik	T	C	5: 138,647,247 (GRCm38)	S465P	possibly damaging	Het
Acap3	T	C	4: 155,905,621 (GRCm38)	F753L	probably damaging	Het
Adam9	A	T	8: 24,967,207 (GRCm38)	V635E	probably damaging	Het
Adgre4	T	A	17: 55,852,340 (GRCm38)	V675E	probably benign	Het
Anapc4	T	C	5: 52,857,201 (GRCm38)	Y469H	probably benign	Het
Ankdd1b	T	G	13: 96,424,760 (GRCm38)	K325N	possibly damaging	Het
Aox1	T	C	1: 58,082,013 (GRCm38)	V881A	probably damaging	Het
Arhgap5	A	G	12: 52,516,956 (GRCm38)	T237A	probably benign	Het
Asah1	T	C	8: 41,343,565 (GRCm38)	D331G	possibly damaging	Het
Atp5f1a	G	A	18: 77,779,120 (GRCm38)	R231H	probably benign	Het
Bod1l	G	A	5: 41,807,179 (GRCm38)	P2694L	probably damaging	Het
Bst1	T	C	5: 43,821,742 (GRCm38)	S143P	probably benign	Het
Cacna1b	A	C	2: 24,607,501 (GRCm38)	S2132A	probably benign	Het
Caps2	G	T	10: 112,208,354 (GRCm38)	R486L	probably damaging	Het
Ccdc168	A	G	1: 44,058,708 (GRCm38)	S1077P	possibly damaging	Het
Cd68	T	C	11: 69,665,928 (GRCm38)	T18A	probably benign	Het
Cdk8	T	C	5: 146,292,769 (GRCm38)		probably null	Het
Col18a1	A	T	10: 77,096,238 (GRCm38)	I127N	unknown	Het
Dsc3	T	C	18: 19,981,156 (GRCm38)	D347G	probably damaging	Het
Dyrk2	T	C	10: 118,859,881 (GRCm38)	S491G	probably damaging	Het
Edem1	T	A	6: 108,851,305 (GRCm38)	Y530*	probably null	Het
Enc1	A	T	13: 97,246,740 (GRCm38)	H586L	probably benign	Het
Ephb6	T	G	6: 41,618,047 (GRCm38)		probably null	Het
Etv5	G	T	16: 22,436,059 (GRCm38)	Q48K	probably damaging	Het
Exoc3l	A	G	8: 105,292,926 (GRCm38)	W404R	probably damaging	Het
Fbn1	C	A	2: 125,403,212 (GRCm38)	A252S	possibly damaging	Het
Foxe3	A	G	4: 114,925,293 (GRCm38)	S241P	unknown	Het
Gm49380	T	A	9: 44,112,412 (GRCm38)	M180L	probably benign	Het
Hoxd1	A	T	2: 74,763,559 (GRCm38)	D153V	probably damaging	Het
Ifi207	C	T	1: 173,727,431 (GRCm38)	S895N	probably benign	Het
Igf1r	G	A	7: 68,173,278 (GRCm38)	V385M	probably damaging	Het
Ktn1	A	G	14: 47,714,640 (GRCm38)	E979G	probably benign	Het
Lama3	G	A	18: 12,472,181 (GRCm38)		probably null	Het
Lrtm2	C	T	6: 119,317,431 (GRCm38)	M246I	probably damaging	Het
Mdm1	T	C	10: 118,146,685 (GRCm38)	V75A	probably benign	Het
Mia3	T	C	1: 183,358,876 (GRCm38)	E165G	probably benign	Het
Mrps21	T	C	3: 95,862,816 (GRCm38)	E67G	probably damaging	Het
Mybpc1	A	C	10: 88,526,293 (GRCm38)	I995S	probably damaging	Het
Mylk2	T	G	2: 152,911,426 (GRCm38)		probably benign	Het
Myo16	G	A	8: 10,272,537 (GRCm38)	C11Y	probably damaging	Het
Nudt18	A	C	14: 70,579,358 (GRCm38)	D134A	probably benign	Het
Obox1	G	T	7: 15,555,566 (GRCm38)	K93N	probably benign	Het
Or12d2	T	A	17: 37,313,925 (GRCm38)	H153L	possibly damaging	Het
Or2r3	A	T	6: 42,471,500 (GRCm38)	M226K	probably benign	Het
Or56a4	T	C	7: 105,157,082 (GRCm38)	Y200C	probably damaging	Het
Or5ar1	A	T	2: 85,841,752 (GRCm38)	V13D	probably benign	Het
Pkd2l1	T	C	19: 44,157,229 (GRCm38)	H185R	probably benign	Het
Ptpn18	A	G	1: 34,462,750 (GRCm38)	T48A	probably benign	Het
Ptprd	A	T	4: 76,059,821 (GRCm38)	Y583*	probably null	Het
Ptprk	G	A	10: 28,574,819 (GRCm38)	G992D	probably damaging	Het
Setdb2	A	G	14: 59,419,251 (GRCm38)	F206L	probably damaging	Het
Slain1	A	G	14: 103,685,714 (GRCm38)	D247G	probably damaging	Het
Slc10a2	A	T	8: 5,089,086 (GRCm38)	V286E	possibly damaging	Het
Slc44a2	C	T	9: 21,345,523 (GRCm38)	T367I	probably damaging	Het
Slco4a1	T	C	2: 180,474,126 (GRCm38)	V685A	probably benign	Het
Srp54c	T	A	12: 55,255,562 (GRCm38)	Y333N	probably damaging	Het
Srrm2	T	C	17: 23,820,117 (GRCm38)	S1912P	unknown	Het
St7l	A	G	3: 104,889,329 (GRCm38)	T253A	possibly damaging	Het
Styxl2	T	C	1: 166,101,015 (GRCm38)	K343E	probably benign	Het
Sun3	T	G	11: 9,031,445 (GRCm38)	Y53S	possibly damaging	Het
Tktl2	A	G	8: 66,512,909 (GRCm38)	N373S	possibly damaging	Het
Tmco3	T	A	8: 13,320,781 (GRCm38)	S648R	probably damaging	Het
Tmem178	T	A	17: 80,944,756 (GRCm38)	V23D	probably damaging	Het
Tmem229a	C	A	6: 24,955,690 (GRCm38)	G22W	probably damaging	Het
Top3a	C	T	11: 60,753,918 (GRCm38)	S320N	possibly damaging	Het
Treml1	C	A	17: 48,366,691 (GRCm38)	D243E	probably damaging	Het
Trim42	C	T	9: 97,362,945 (GRCm38)	V601M	probably damaging	Het
Ttn	A	G	2: 76,743,006 (GRCm38)	S25848P	probably damaging	Het
Vmn1r86	A	T	7: 13,102,056 (GRCm38)	F298I	possibly damaging	Het
Vmn2r96	T	C	17: 18,573,400 (GRCm38)	F2S	probably benign	Het
Xpc	A	G	6: 91,504,649 (GRCm38)	L230P	probably damaging	Het
Xpo4	A	G	14: 57,630,223 (GRCm38)	V189A	probably benign	Het
Zfhx3	A	G	8: 108,792,836 (GRCm38)	T197A	probably damaging	Het
Zswim1	A	G	2: 164,825,790 (GRCm38)	K321E	probably damaging	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
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
R8314:Ints9	UTSW	14	65,029,030 (GRCm38)	missense	probably damaging	1.00
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'- TCTCATGAGACAGGCTAGTGAAAAG -3'
(R):5'- TTTAGACAGTCCTGGCAAGC -3'

Sequencing Primer
(F):5'- CTAGTGAAAAGGGGGCAAATCCAC -3'
(R):5'- CTGAGTGACCTGGACCATTAGAC -3'

Posted On

2019-10-07