Mutagenetix > Incidental Mutation

Incidental Mutation 'R5083:Ints12'

387236

Institutional Source

Beutler Lab

Gene Symbol

Ints12

Ensembl Gene

ENSMUSG00000028016

Gene Name

integrator complex subunit 12

Synonyms

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

MMRRC Submission

042672-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133091840-133110988 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133100777 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 155 (M155T)

Ref Sequence

ENSEMBL: ENSMUSP00000029650 (fasta)

Gene Model

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

AlphaFold

Q9D168

PDB Structure

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029650
AA Change: M155T

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029650
Gene: ENSMUSG00000028016
AA Change: M155T

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

noncoding transcript
Transcript: ENSMUST00000160036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160669

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	C	T	17: 48,166,390	V120M	possibly damaging	Het
Abca6	T	C	11: 110,218,967	D646G	probably damaging	Het
Agbl5	G	A	5: 30,903,059	R141Q	probably damaging	Het
Arid1b	A	G	17: 5,314,018	T554A	possibly damaging	Het
Atp2a3	G	T	11: 72,982,826	V824L	probably null	Het
Bet1	T	C	6: 4,077,895	I115V	possibly damaging	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Cfap65	A	G	1: 74,906,441	S1373P	probably damaging	Het
Chd9	T	C	8: 90,984,374	L353P	probably damaging	Het
Chil3	C	A	3: 106,164,089		probably null	Het
Comp	C	T	8: 70,381,300	T655M	probably damaging	Het
Dctd	T	C	8: 48,111,716	Y18H	probably damaging	Het
Ddx39b	G	A	17: 35,253,029	G348D	possibly damaging	Het
Dhx36	A	T	3: 62,471,999	S889R	probably benign	Het
Dtx2	T	C	5: 136,012,190	Y150H	probably damaging	Het
Epx	A	G	11: 87,872,680	F238S	probably damaging	Het
Ergic2	T	C	6: 148,196,014	T154A	probably benign	Het
Esco1	A	G	18: 10,594,734	I184T	probably benign	Het
Esf1	G	T	2: 140,157,071	A495E	possibly damaging	Het
Esf1	T	C	2: 140,158,579	Y429C	possibly damaging	Het
Fcho1	C	A	8: 71,717,176	R101L	probably benign	Het
Foxn4	T	A	5: 114,256,927	D313V	probably damaging	Het
Gm11568	T	C	11: 99,857,972	M1T	probably null	Het
Gm14409	A	G	2: 177,265,571	F45L	probably damaging	Het
Gphn	T	A	12: 78,623,289		probably null	Het
Grid2	C	T	6: 64,320,152	Q500*	probably null	Het
Igsf10	A	G	3: 59,326,273	S1680P	probably damaging	Het
Invs	A	T	4: 48,396,307	M327L	possibly damaging	Het
Kdm3a	T	C	6: 71,621,362	E180G	probably damaging	Het
Mgat3	G	A	15: 80,211,298	V109M	possibly damaging	Het
Mrgprb3	A	G	7: 48,643,014	V263A	probably benign	Het
Mroh7	A	T	4: 106,690,318	V1109D	probably benign	Het
Myo15b	A	T	11: 115,866,656	T1111S	probably benign	Het
Myo19	G	T	11: 84,903,211	A654S	possibly damaging	Het
Mypn	A	T	10: 63,118,528	V1224D	probably damaging	Het
Nalcn	A	G	14: 123,323,294		probably null	Het
Olfr250	G	A	9: 38,368,062	C172Y	possibly damaging	Het
Olfr437	G	T	6: 43,167,339	A94S	probably benign	Het
Olfr676	A	T	7: 105,035,411	Y71F	probably damaging	Het
Pdcd2	A	G	17: 15,522,822	I247T	possibly damaging	Het
Pik3c2a	A	T	7: 116,342,401	N1571K	probably damaging	Het
Plagl2	T	C	2: 153,236,044	T6A	probably benign	Het
Ros1	T	A	10: 52,163,941	Y318F	possibly damaging	Het
Sdccag8	C	A	1: 176,824,892	H70N	probably damaging	Het
Skint1	A	G	4: 112,029,433	R359G	probably benign	Het
Slc44a5	A	T	3: 154,247,787	I269L	probably benign	Het
Slfn10-ps	T	A	11: 83,030,515		noncoding transcript	Het
Suclg1	C	A	6: 73,263,980	T164K	probably benign	Het
Tgds	C	A	14: 118,116,079		probably null	Het
Ttn	T	C	2: 76,813,533	D13117G	probably damaging	Het
Ttn	T	C	2: 76,870,737		probably benign	Het
Vmn2r28	A	T	7: 5,480,672	I843N	possibly damaging	Het
Vmn2r52	A	T	7: 10,159,465	Y582*	probably null	Het
Vps33b	G	T	7: 80,274,641	K65N	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
R4594:Ints12	UTSW	3	133108868	missense	probably benign	0.00
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
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'- TTCACAATCGTTCAACATCTCG -3'
(R):5'- CAGTGTTCAAGGATTAGATGTGTAG -3'

Sequencing Primer
(F):5'- TCAACATCTCGTTCTTTTCATAGATG -3'
(R):5'- GATGTGTAGTTTACAAGATGCAGTC -3'

Posted On

2016-06-06