Mutagenetix > Incidental Mutation

Incidental Mutation 'R4594:Ints12'

344248

Institutional Source

Beutler Lab

Gene Symbol

Ints12

Ensembl Gene

ENSMUSG00000028016

Gene Name

integrator complex subunit 12

Synonyms

Phf22, 2810027J24Rik, 1110020M19Rik, 4930529N21Rik, A230056J18Rik

MMRRC Submission

041810-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133091840-133110988 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133108868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 279 (N279D)

Ref Sequence

ENSEMBL: ENSMUSP00000029650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029650] [ENSMUST00000147041]

AlphaFold

Q9D168

PDB Structure

Solution structure of PHD domain in protein NP_082203 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000029650
AA Change: N279D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000029650
Gene: ENSMUSG00000028016
AA Change: N279D

Domain	Start	End	E-Value	Type
internal_repeat_1	23	67	4.54e-5	PROSPERO
low complexity region	74	82	N/A	INTRINSIC
internal_repeat_1	91	139	4.54e-5	PROSPERO
PHD	160	212	4.63e-9	SMART
low complexity region	219	240	N/A	INTRINSIC
low complexity region	269	291	N/A	INTRINSIC
low complexity region	337	373	N/A	INTRINSIC
low complexity region	381	436	N/A	INTRINSIC
low complexity region	451	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147041

SMART Domains

Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969

Domain	Start	End	E-Value	Type
low complexity region	34	49	N/A	INTRINSIC
RhoGEF	98	284	2.72e-33	SMART
low complexity region	296	312	N/A	INTRINSIC
BAR	315	514	4.8e-29	SMART
SH3	584	643	5.56e-1	SMART
low complexity region	678	689	N/A	INTRINSIC
SH3	709	768	1.95e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160669

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] INTS12 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]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,575,754	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,860,538	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,921,447	I264N	probably damaging	Het
Alpk1	G	A	3: 127,683,554	A285V	probably damaging	Het
Auh	T	C	13: 52,912,966		probably benign	Het
BC030499	T	A	11: 78,291,647	V94D	possibly damaging	Het
Cacna2d3	A	G	14: 28,982,346	F826S	probably benign	Het
Ccdc54	G	T	16: 50,590,017	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079	V551I	probably benign	Het
Diaph3	C	T	14: 86,986,037	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842		probably benign	Het
Dscam	A	T	16: 96,717,996	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186	E196G	probably benign	Het
Gsk3b	G	A	16: 38,170,701	C107Y	possibly damaging	Het
H2-M5	T	C	17: 36,987,805	T250A	possibly damaging	Het
Il17f	T	A	1: 20,777,802	T151S	probably damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321	T226I	probably benign	Het
Mael	T	A	1: 166,235,487	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652	R49S	probably benign	Het
Meioc	G	T	11: 102,674,166	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,392,847		probably null	Het
Nfe2	A	G	15: 103,248,805	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489	I478T	probably benign	Het
Nxpe2	T	C	9: 48,319,482	D529G	probably damaging	Het
Oard1	T	C	17: 48,415,239	S88P	possibly damaging	Het
Olfr1370	C	T	13: 21,072,522	V260I	probably benign	Het
Olfr231	G	T	1: 174,117,320	T232N	probably damaging	Het
Olfr639	T	C	7: 104,012,417	D95G	probably benign	Het
Olfr678	T	C	7: 105,069,590	V41A	probably benign	Het
Olfr732	G	A	14: 50,281,683	T190I	probably benign	Het
Olfr741	A	G	14: 50,486,162	R235G	probably benign	Het
Olfr906	A	C	9: 38,488,761	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253	T262I	possibly damaging	Het
Plcb4	A	T	2: 136,002,599	M146L	probably damaging	Het
Prkdc	A	T	16: 15,767,966	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671		probably benign	Het
Rad51ap2	T	C	12: 11,457,880	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,394,567	N139K	probably damaging	Het
Rexo2	A	T	9: 48,480,417	V46E	probably damaging	Het
Slmap	A	T	14: 26,465,617	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662	D548V	probably damaging	Het
Wdr81	T	C	11: 75,445,794	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,429,042	N291K	possibly damaging	Het
Zfp119a	G	A	17: 55,866,325	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182	L335P	probably damaging	Het

Other mutations in Ints12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Ints12	APN	3	133100809	critical splice donor site	probably null
R0243:Ints12	UTSW	3	133109045	missense	probably benign	0.37
R0847:Ints12	UTSW	3	133108842	missense	possibly damaging	0.72
R2118:Ints12	UTSW	3	133109160	missense	probably damaging	0.98
R2323:Ints12	UTSW	3	133109365	missense	possibly damaging	0.60
R2324:Ints12	UTSW	3	133109365	missense	possibly damaging	0.60
R2384:Ints12	UTSW	3	133109103	splice site	probably null
R3055:Ints12	UTSW	3	133109365	missense	possibly damaging	0.60
R3056:Ints12	UTSW	3	133109365	missense	possibly damaging	0.60
R3919:Ints12	UTSW	3	133100683	missense	probably benign
R4431:Ints12	UTSW	3	133102481	missense	probably damaging	1.00
R4598:Ints12	UTSW	3	133098453	missense	probably benign
R4599:Ints12	UTSW	3	133098453	missense	probably benign
R4702:Ints12	UTSW	3	133096785	missense	probably damaging	1.00
R5083:Ints12	UTSW	3	133100777	missense	possibly damaging	0.54
R5507:Ints12	UTSW	3	133109160	missense	probably damaging	1.00
R5894:Ints12	UTSW	3	133098558	missense	probably damaging	1.00
R6647:Ints12	UTSW	3	133096878	missense	possibly damaging	0.88
R8245:Ints12	UTSW	3	133108872	missense	probably benign
R8887:Ints12	UTSW	3	133109242	missense	probably damaging	0.99
R9779:Ints12	UTSW	3	133106991	missense	probably benign	0.30
Z1176:Ints12	UTSW	3	133102464	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTACAGAAACGCCCATGTG -3'
(R):5'- TTTGGATGATGTTGCCAGACC -3'

Sequencing Primer
(F):5'- GTGTTTCCCAATTCAGCTTCATAAG -3'
(R):5'- GATGATGTTGCCAGACCAGTCAAAC -3'

Posted On

2015-09-25