Mutagenetix > Incidental Mutation

Incidental Mutation 'R4598:Ints12'

345339

Institutional Source

Beutler Lab

Gene Symbol

Ints12

Ensembl Gene

ENSMUSG00000028016

Gene Name

integrator complex subunit 12

Synonyms

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

MMRRC Submission

041814-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133091840-133110988 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133098453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 67 (I67N)

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

probably benign
Transcript: ENSMUST00000029650
AA Change: I67N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029650
Gene: ENSMUSG00000028016
AA Change: I67N

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 11,747,964		probably null	Het
Abca14	T	C	7: 120,255,403	V930A	probably benign	Het
Abcb7	A	C	X: 104,323,382	D135E	probably benign	Het
Ace	T	A	11: 105,981,759		probably null	Het
Acnat1	T	C	4: 49,450,781	D110G	probably benign	Het
Ak9	C	T	10: 41,383,911	P862S	probably damaging	Het
Atp1a3	A	G	7: 24,979,341	S972P	probably damaging	Het
Bmf	C	A	2: 118,549,128	A56S	probably benign	Het
C6	T	C	15: 4,763,370	L319P	possibly damaging	Het
Cab39	A	G	1: 85,848,329	Y249C	probably damaging	Het
Cdc14b	T	C	13: 64,247,274	T69A	probably benign	Het
Cep162	A	G	9: 87,203,795	Y1159H	possibly damaging	Het
Chrna7	A	G	7: 63,103,790	M327T	probably damaging	Het
Clca3a2	A	T	3: 144,805,683	N41K	probably damaging	Het
Clock	T	C	5: 76,235,810	M499V	probably benign	Het
Col5a3	A	G	9: 20,774,559		probably null	Het
Coq6	T	C	12: 84,362,139	V30A	probably benign	Het
Cyp3a57	A	G	5: 145,390,417	I473V	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183	V1547D	probably damaging	Het
Dhx9	TCC	TC	1: 153,467,051		probably null	Het
Dock2	T	A	11: 34,239,536	Y1545F	probably damaging	Het
Eif4e3	T	A	6: 99,640,710	I67L	probably benign	Het
Epor	A	G	9: 21,961,859	S86P	probably benign	Het
Esp31	T	A	17: 38,641,121		probably null	Het
Esrp2	A	G	8: 106,132,711	M498T	probably damaging	Het
F5	T	C	1: 164,204,797	I1771T	probably benign	Het
Fancd2	C	A	6: 113,585,477	H1259Q	probably benign	Het
Gale	C	A	4: 135,967,837	S341*	probably null	Het
Kat2b	A	G	17: 53,670,798	Y791C	probably benign	Het
Kazn	A	G	4: 142,210,092	V108A	possibly damaging	Het
Kcnma1	T	C	14: 23,803,160	T109A	probably damaging	Het
Med13	T	C	11: 86,278,566	T1955A	probably damaging	Het
Megf10	G	A	18: 57,189,603		probably null	Het
Megf10	A	T	18: 57,287,812	S841C	probably damaging	Het
Mep1a	A	G	17: 43,491,578		probably null	Het
Mrap2	A	T	9: 87,182,789	E194D	probably damaging	Het
Msh2	A	G	17: 87,708,578	K546R	probably damaging	Het
Ndc80	T	C	17: 71,521,068	D88G	probably damaging	Het
Nrip1	A	G	16: 76,293,080	F530L	probably damaging	Het
Olfr1380	T	C	11: 49,564,718	S266P	probably damaging	Het
Olfr1504	A	T	19: 13,888,017	H64Q	probably damaging	Het
Olfr676	A	C	7: 105,036,073	I292L	probably benign	Het
Olfr812	T	C	10: 129,842,995	T16A	possibly damaging	Het
Oxtr	C	T	6: 112,489,752	G16R	probably benign	Het
Pdgfrb	A	T	18: 61,068,757	K464N	probably benign	Het
Pja2	A	T	17: 64,313,030	M1K	probably null	Het
Pkhd1	A	T	1: 20,503,056	N1875K	probably damaging	Het
Pogz	T	C	3: 94,880,180	S1360P	possibly damaging	Het
Proc	A	T	18: 32,123,459	L385Q	probably damaging	Het
Ptprm	A	G	17: 67,095,497	I132T	probably benign	Het
Rpgr	A	G	X: 10,196,016	S343P	probably benign	Het
Rsu1	T	C	2: 13,170,004	Y225C	probably damaging	Het
Scyl1	A	G	19: 5,770,453	S118P	probably damaging	Het
Sec61a1	T	C	6: 88,506,149	N414D	probably benign	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Sema7a	A	G	9: 57,953,551	D65G	probably benign	Het
Slc25a45	A	G	19: 5,884,436	Y144C	probably damaging	Het
Slc26a6	A	G	9: 108,856,380	Y103C	probably damaging	Het
Stat3	C	T	11: 100,903,674	D270N	probably damaging	Het
Taar8b	T	C	10: 24,091,838	S153G	probably benign	Het
Top1	A	G	2: 160,720,965	E697G	possibly damaging	Het
Trappc11	G	A	8: 47,513,766	T470I	probably damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Usp29	A	G	7: 6,962,480	T441A	probably benign	Het
Vmn2r110	A	T	17: 20,583,767	L182*	probably null	Het
Zgrf1	T	C	3: 127,601,030	I1345T	probably benign	Het
Zscan25	G	T	5: 145,291,005	R493L	probably benign	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
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'- ACTGGAGACTGTTTAGGTCATTAC -3'
(R):5'- TGATGTAACTCCGCCCACTG -3'

Sequencing Primer
(F):5'- ACTGTTTAGGTCATTACTTTCTGTGC -3'
(R):5'- TCCGCCCACTGCTACATAAAG -3'

Posted On

2015-09-25