Mutagenetix > Incidental Mutation

Incidental Mutation 'R3919:Ints12'

306881

Institutional Source

Beutler Lab

Gene Symbol

Ints12

Ensembl Gene

ENSMUSG00000028016

Gene Name

integrator complex subunit 12

Synonyms

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

MMRRC Submission

040817-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132797616-132816749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132806444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 124 (T124S)

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: T124S

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

SMART Domains

Protein: ENSMUSP00000029650
Gene: ENSMUSG00000028016
AA Change: T124S

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

Meta Mutation Damage Score

0.0580

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	G	T	7: 43,879,852 (GRCm39)		probably benign	Het
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Abcb5	A	G	12: 118,854,353 (GRCm39)	M854T	possibly damaging	Het
Akap9	T	A	5: 4,011,764 (GRCm39)	Y822*	probably null	Het
Apoe	T	C	7: 19,430,472 (GRCm39)	T257A	probably benign	Het
Atm	C	A	9: 53,403,578 (GRCm39)	A1365S	probably benign	Het
Bmp2k	T	C	5: 97,222,599 (GRCm39)	S674P	unknown	Het
Cd177	T	C	7: 24,443,858 (GRCm39)	S747G	probably benign	Het
Cdk5rap2	A	G	4: 70,298,460 (GRCm39)	F91L	possibly damaging	Het
Chil4	A	T	3: 106,109,848 (GRCm39)	N388K	probably benign	Het
Dnah3	G	A	7: 119,550,303 (GRCm39)	L3328F	probably damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Ercc5	C	A	1: 44,201,091 (GRCm39)	T217K	probably damaging	Het
Esyt1	T	A	10: 128,356,905 (GRCm39)		probably benign	Het
Ifih1	C	A	2: 62,453,845 (GRCm39)		probably benign	Het
Kdm5d	T	C	Y: 939,914 (GRCm39)	L1022P	probably damaging	Het
Lama2	T	A	10: 26,994,501 (GRCm39)	N1803Y	probably damaging	Het
Lpcat2	C	T	8: 93,640,902 (GRCm39)	T449I	probably damaging	Het
Ly6c2	A	T	15: 74,980,613 (GRCm39)		probably null	Het
Mast3	T	C	8: 71,232,066 (GRCm39)	K1304E	probably benign	Het
Mdm4	T	C	1: 132,922,306 (GRCm39)	K279E	possibly damaging	Het
Mest	G	A	6: 30,742,749 (GRCm39)	S132N	probably benign	Het
Mras	T	A	9: 99,293,473 (GRCm39)	I56F	probably damaging	Het
Mrgprb1	T	C	7: 48,097,829 (GRCm39)	K28E	probably benign	Het
Myrip	G	A	9: 120,261,695 (GRCm39)	G436D	probably damaging	Het
Nr2e3	T	A	9: 59,850,723 (GRCm39)	T379S	probably damaging	Het
Or8k27	A	G	2: 86,275,762 (GRCm39)	V188A	probably benign	Het
Plscr3	T	A	11: 69,738,236 (GRCm39)		probably benign	Het
Pola1	C	A	X: 92,505,078 (GRCm39)	R1313L	probably benign	Het
Ppt2	T	C	17: 34,841,897 (GRCm39)	N213S	probably damaging	Het
Prelid2	T	A	18: 42,070,740 (GRCm39)	D31V	possibly damaging	Het
Psmb9	C	T	17: 34,402,588 (GRCm39)		probably null	Het
Rec8	A	G	14: 55,858,716 (GRCm39)	T164A	probably benign	Het
Rnf103	G	A	6: 71,487,331 (GRCm39)	R654Q	probably benign	Het
Setdb2	T	A	14: 59,656,616 (GRCm39)	I250F	probably damaging	Het
Slurp1	A	T	15: 74,598,659 (GRCm39)	*111K	probably null	Het
Sphkap	T	G	1: 83,254,179 (GRCm39)	E903A	probably damaging	Het
Sst	T	C	16: 23,708,591 (GRCm39)	D80G	possibly damaging	Het
Stat4	C	T	1: 52,135,981 (GRCm39)	T430I	possibly damaging	Het
Tmprss4	C	T	9: 45,091,964 (GRCm39)	V174M	probably benign	Het
Trim6	A	T	7: 103,882,057 (GRCm39)	Y436F	probably damaging	Het
Ttc28	C	A	5: 111,433,245 (GRCm39)	A2093E	possibly damaging	Het
Vav3	A	G	3: 109,434,854 (GRCm39)	N462D	possibly damaging	Het
Whrn	G	T	4: 63,413,421 (GRCm39)	S17*	probably null	Het
Zfhx4	T	A	3: 5,464,175 (GRCm39)	S1469R	possibly damaging	Het
Zfp108	T	A	7: 23,960,257 (GRCm39)	C283S	probably damaging	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
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
R6647:Ints12	UTSW	3	132,802,639 (GRCm39)	missense	possibly damaging	0.88
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'- TTCGTCTACTGGTCCTCGAAG -3'
(R):5'- GAGGAGAGTGTTTGCTCATTCTAAAG -3'

Sequencing Primer
(F):5'- AGCTCTCCCTGTCAGTGTGAAAATG -3'
(R):5'- TTCTAAAGAATGAAAACGCCCTGTGG -3'

Posted On

2015-04-17