Mutagenetix > Incidental Mutation

Incidental Mutation 'R6647:Ints12'

526114

Institutional Source

Beutler Lab

Gene Symbol

Ints12

Ensembl Gene

ENSMUSG00000028016

Gene Name

integrator complex subunit 12

Synonyms

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

MMRRC Submission

044768-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6647 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132797616-132816749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 132802639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 41 (R41Q)

Ref Sequence

ENSEMBL: ENSMUSP00000029650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029650] [ENSMUST00000080583]

AlphaFold

Q9D168

PDB Structure

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029650
AA Change: R41Q

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029650
Gene: ENSMUSG00000028016
AA Change: R41Q

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: ENSMUST00000080583

SMART Domains

Protein: ENSMUSP00000079421
Gene: ENSMUSG00000028018

Domain	Start	End	E-Value	Type
low complexity region	52	62	N/A	INTRINSIC
low complexity region	168	181	N/A	INTRINSIC
low complexity region	195	205	N/A	INTRINSIC
low complexity region	208	229	N/A	INTRINSIC
Pfam:GidB	418	516	1.5e-8	PFAM
Pfam:Methyltransf_32	424	548	1.1e-15	PFAM
Pfam:Methyltransf_31	440	569	2.5e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160669

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (53/54)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,544,060 (GRCm39)	T1416A	probably damaging	Het
Atp7b	A	G	8: 22,518,494 (GRCm39)	S103P	probably damaging	Het
Ces1h	A	C	8: 94,078,654 (GRCm39)	*563G	probably null	Het
Cfap157	G	T	2: 32,669,086 (GRCm39)	A339E	probably benign	Het
Crebbp	C	T	16: 3,937,670 (GRCm39)	A698T	possibly damaging	Het
Cyp2b13	A	G	7: 25,785,324 (GRCm39)	H231R	possibly damaging	Het
Ddx31	A	T	2: 28,765,750 (GRCm39)	T483S	probably damaging	Het
Defa25	A	T	8: 21,575,201 (GRCm39)	D60V	possibly damaging	Het
Dnah5	G	A	15: 28,403,633 (GRCm39)	A3453T	probably benign	Het
Dnah6	A	T	6: 73,115,743 (GRCm39)	F1500I	probably damaging	Het
Eprs1	C	T	1: 185,146,621 (GRCm39)	A1217V	probably damaging	Het
Ermp1	T	C	19: 29,604,335 (GRCm39)	Y481C	probably benign	Het
Fmn2	T	A	1: 174,420,670 (GRCm39)	N635K	unknown	Het
Fras1	A	G	5: 96,883,061 (GRCm39)	D2531G	probably damaging	Het
Frat1	C	T	19: 41,819,264 (GRCm39)	Q220*	probably null	Het
Gcc2	T	A	10: 58,123,103 (GRCm39)		probably null	Het
Gm3285	T	C	10: 77,698,447 (GRCm39)		probably benign	Het
Gm9857	T	C	3: 108,847,379 (GRCm39)		probably benign	Het
Grin2b	C	A	6: 135,710,108 (GRCm39)	W1146L	probably damaging	Het
Hells	T	A	19: 38,919,948 (GRCm39)	L33I	probably benign	Het
Ift81	T	A	5: 122,748,229 (GRCm39)	R54*	probably null	Het
Katnal2	C	T	18: 77,067,733 (GRCm39)	E403K	probably benign	Het
Kcnk1	A	G	8: 126,722,199 (GRCm39)	M1V	probably null	Het
Kdm5a	A	G	6: 120,389,422 (GRCm39)	T950A	probably benign	Het
Kdr	G	A	5: 76,113,549 (GRCm39)	A773V	probably damaging	Het
Lats1	G	C	10: 7,573,271 (GRCm39)	M118I	possibly damaging	Het
Mug1	A	G	6: 121,817,200 (GRCm39)	I90V	probably benign	Het
Nid2	A	G	14: 19,852,484 (GRCm39)	D1064G	probably benign	Het
Nkx2-4	A	T	2: 146,926,187 (GRCm39)	I225N	possibly damaging	Het
Nlrp4e	A	G	7: 23,020,740 (GRCm39)	D409G	probably benign	Het
Ogfod2	G	C	5: 124,252,866 (GRCm39)	R292P	possibly damaging	Het
Oprk1	C	T	1: 5,672,507 (GRCm39)	P215S	probably damaging	Het
Or5d36	A	T	2: 87,901,053 (GRCm39)	F224L	probably benign	Het
Or6c35	T	A	10: 129,169,033 (GRCm39)	C94*	probably null	Het
Or7g27	T	A	9: 19,249,925 (GRCm39)	H56Q	possibly damaging	Het
Or8g21	T	C	9: 38,906,210 (GRCm39)	I174V	possibly damaging	Het
Pcdhb16	A	G	18: 37,612,225 (GRCm39)	K395R	possibly damaging	Het
Ptprg	C	A	14: 11,962,714 (GRCm38)	P171T	probably damaging	Het
Pycard	T	C	7: 127,592,741 (GRCm39)	T29A	probably benign	Het
Rap1gap2	G	A	11: 74,298,754 (GRCm39)	A452V	probably benign	Het
Rasgrf1	C	G	9: 89,892,516 (GRCm39)	T1072S	probably benign	Het
Rc3h2	G	A	2: 37,272,956 (GRCm39)	R707*	probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Senp7	T	C	16: 55,993,618 (GRCm39)	I767T	probably damaging	Het
Setd7	A	G	3: 51,450,183 (GRCm39)	V81A	probably benign	Het
Shisal2a	A	G	4: 108,225,224 (GRCm39)	S113P	probably benign	Het
Shkbp1	A	G	7: 27,041,800 (GRCm39)	S685P	probably benign	Het
Snrnp200	A	G	2: 127,068,372 (GRCm39)	E904G	probably damaging	Het
Spata22	T	A	11: 73,245,526 (GRCm39)		probably null	Het
Spata31e2	T	A	1: 26,721,659 (GRCm39)	N1174Y	probably damaging	Het
Tas2r138	G	T	6: 40,589,733 (GRCm39)	T171K	possibly damaging	Het
Tor1aip1	T	C	1: 155,893,999 (GRCm39)	D77G	possibly damaging	Het
Vav3	A	T	3: 109,434,732 (GRCm39)	H421L	probably benign	Het
Vmn1r43	A	G	6: 89,846,841 (GRCm39)	L215P	probably damaging	Het
Vmn2r100	T	A	17: 19,742,785 (GRCm39)	S386R	probably benign	Het
Xpa	T	A	4: 46,183,089 (GRCm39)	R233S	probably benign	Het

Other mutations in Ints12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Ints12	APN	3	132,806,570 (GRCm39)	critical splice donor site	probably null
R0243:Ints12	UTSW	3	132,814,806 (GRCm39)	missense	probably benign	0.37
R0847:Ints12	UTSW	3	132,814,603 (GRCm39)	missense	possibly damaging	0.72
R2118:Ints12	UTSW	3	132,814,921 (GRCm39)	missense	probably damaging	0.98
R2323:Ints12	UTSW	3	132,815,126 (GRCm39)	missense	possibly damaging	0.60
R2324:Ints12	UTSW	3	132,815,126 (GRCm39)	missense	possibly damaging	0.60
R2384:Ints12	UTSW	3	132,814,864 (GRCm39)	splice site	probably null
R3055:Ints12	UTSW	3	132,815,126 (GRCm39)	missense	possibly damaging	0.60
R3056:Ints12	UTSW	3	132,815,126 (GRCm39)	missense	possibly damaging	0.60
R3919:Ints12	UTSW	3	132,806,444 (GRCm39)	missense	probably benign
R4431:Ints12	UTSW	3	132,808,242 (GRCm39)	missense	probably damaging	1.00
R4594:Ints12	UTSW	3	132,814,629 (GRCm39)	missense	probably benign	0.00
R4598:Ints12	UTSW	3	132,804,214 (GRCm39)	missense	probably benign
R4599:Ints12	UTSW	3	132,804,214 (GRCm39)	missense	probably benign
R4702:Ints12	UTSW	3	132,802,546 (GRCm39)	missense	probably damaging	1.00
R5083:Ints12	UTSW	3	132,806,538 (GRCm39)	missense	possibly damaging	0.54
R5507:Ints12	UTSW	3	132,814,921 (GRCm39)	missense	probably damaging	1.00
R5894:Ints12	UTSW	3	132,804,319 (GRCm39)	missense	probably damaging	1.00
R8245:Ints12	UTSW	3	132,814,633 (GRCm39)	missense	probably benign
R8887:Ints12	UTSW	3	132,815,003 (GRCm39)	missense	probably damaging	0.99
R9779:Ints12	UTSW	3	132,812,752 (GRCm39)	missense	probably benign	0.30
Z1176:Ints12	UTSW	3	132,808,225 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTAACATTCATTGTTCCAGAAGGG -3'
(R):5'- TTCTTTGAAGGCATGAGGGAAG -3'

Sequencing Primer
(F):5'- AGGGAGAAGGAAGTCAGATAATTTC -3'
(R):5'- CTTTGAAGGCATGAGGGAAGAGAAC -3'

Posted On

2018-06-22