Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01864:Ints3'

178439

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ints3

Ensembl Gene

ENSMUSG00000027933

Gene Name

integrator complex subunit 3

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL01864

Quality Score

Status

Chromosome

Chromosomal Location

90298695-90340929 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90322486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 165 (T165A)

Ref Sequence

ENSEMBL: ENSMUSP00000143196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029542] [ENSMUST00000071488] [ENSMUST00000196530]

AlphaFold

Q7TPD0

Predicted Effect

probably benign
Transcript: ENSMUST00000029542
AA Change: T165A

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933
AA Change: T165A

Domain	Start	End	E-Value	Type
low complexity region	11	33	N/A	INTRINSIC
Pfam:DUF2356	269	493	6e-110	PFAM
low complexity region	557	568	N/A	INTRINSIC
low complexity region	632	647	N/A	INTRINSIC
low complexity region	666	678	N/A	INTRINSIC
coiled coil region	913	940	N/A	INTRINSIC
low complexity region	1006	1019	N/A	INTRINSIC
low complexity region	1021	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071488
AA Change: T165A

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933
AA Change: T165A

Domain	Start	End	E-Value	Type
low complexity region	11	33	N/A	INTRINSIC
Pfam:DUF2356	269	493	6e-110	PFAM
low complexity region	557	568	N/A	INTRINSIC
low complexity region	632	647	N/A	INTRINSIC
low complexity region	666	678	N/A	INTRINSIC
coiled coil region	913	940	N/A	INTRINSIC
low complexity region	1006	1019	N/A	INTRINSIC
low complexity region	1021	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196530
AA Change: T165A

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933
AA Change: T165A

Domain	Start	End	E-Value	Type
low complexity region	11	33	N/A	INTRINSIC
Pfam:DUF2356	268	497	5.7e-114	PFAM
low complexity region	557	568	N/A	INTRINSIC
low complexity region	632	647	N/A	INTRINSIC
low complexity region	666	678	N/A	INTRINSIC
coiled coil region	913	940	N/A	INTRINSIC
low complexity region	1006	1018	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198562

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can form a complex with human single-strand DNA binding proteins 1 or 2 (hSSB1 and hSSB2) and other proteins to mediate genome stability and the DNA damage response. The encoded protein is also part of a multiprotein complex that interacts with the C-terminal domain of RNA polymerase II large subunit to help regulate processing of U1 and U2 small nuclear RNAs. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc40	A	G	11: 119,133,911 (GRCm39)	N630S	probably benign	Het
Cd180	A	T	13: 102,842,541 (GRCm39)	H529L	possibly damaging	Het
Cntnap5c	T	C	17: 58,717,237 (GRCm39)	M1273T	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Helz	C	T	11: 107,493,180 (GRCm39)	S201L	probably damaging	Het
Ifi207	T	C	1: 173,564,007 (GRCm39)	E4G	possibly damaging	Het
Itgax	T	A	7: 127,732,935 (GRCm39)	D271E	probably benign	Het
Mei1	T	C	15: 81,997,218 (GRCm39)		probably benign	Het
Or4g16	T	A	2: 111,137,400 (GRCm39)	N283K	probably damaging	Het
Or52ab2	T	A	7: 102,970,541 (GRCm39)	F308I	probably benign	Het
Prdm4	T	C	10: 85,729,100 (GRCm39)	D762G	probably benign	Het
Psg19	T	A	7: 18,528,077 (GRCm39)	Y222F	probably benign	Het
Rflna	A	G	5: 125,087,511 (GRCm39)	I83V	possibly damaging	Het
Suclg1	T	C	6: 73,241,280 (GRCm39)		probably benign	Het
Usp48	G	A	4: 137,366,538 (GRCm39)	E130K	possibly damaging	Het
Vmn2r109	T	A	17: 20,761,396 (GRCm39)	T654S	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Ints3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ints3	APN	3	90,313,636 (GRCm39)	missense	probably damaging	1.00
IGL01339:Ints3	APN	3	90,322,463 (GRCm39)	critical splice donor site	probably null
IGL01398:Ints3	APN	3	90,300,130 (GRCm39)	missense	probably damaging	1.00
IGL01599:Ints3	APN	3	90,301,629 (GRCm39)	critical splice donor site	probably null
IGL01984:Ints3	APN	3	90,299,533 (GRCm39)	missense	possibly damaging	0.79
IGL02325:Ints3	APN	3	90,311,349 (GRCm39)	missense	probably damaging	1.00
IGL02516:Ints3	APN	3	90,310,415 (GRCm39)	missense	probably damaging	1.00
IGL02867:Ints3	APN	3	90,300,143 (GRCm39)	missense	probably damaging	1.00
IGL02889:Ints3	APN	3	90,300,143 (GRCm39)	missense	probably damaging	1.00
IGL02975:Ints3	APN	3	90,309,144 (GRCm39)	splice site	probably benign
PIT4431001:Ints3	UTSW	3	90,303,767 (GRCm39)	missense	probably damaging	0.99
R0003:Ints3	UTSW	3	90,315,818 (GRCm39)	missense	probably benign	0.00
R0003:Ints3	UTSW	3	90,315,818 (GRCm39)	missense	probably benign	0.00
R0069:Ints3	UTSW	3	90,307,954 (GRCm39)	splice site	probably benign
R0069:Ints3	UTSW	3	90,307,954 (GRCm39)	splice site	probably benign
R1450:Ints3	UTSW	3	90,340,135 (GRCm39)	missense	probably damaging	1.00
R1985:Ints3	UTSW	3	90,307,610 (GRCm39)	critical splice donor site	probably null
R2324:Ints3	UTSW	3	90,301,401 (GRCm39)	missense	probably damaging	1.00
R2425:Ints3	UTSW	3	90,301,417 (GRCm39)	missense	possibly damaging	0.91
R2920:Ints3	UTSW	3	90,300,469 (GRCm39)	missense	probably benign	0.22
R3937:Ints3	UTSW	3	90,311,294 (GRCm39)	nonsense	probably null
R4678:Ints3	UTSW	3	90,315,817 (GRCm39)	missense	possibly damaging	0.47
R4679:Ints3	UTSW	3	90,315,817 (GRCm39)	missense	possibly damaging	0.47
R4719:Ints3	UTSW	3	90,322,828 (GRCm39)	missense	probably benign	0.20
R4726:Ints3	UTSW	3	90,301,084 (GRCm39)	missense	probably damaging	1.00
R4993:Ints3	UTSW	3	90,322,814 (GRCm39)	missense	probably benign	0.05
R5154:Ints3	UTSW	3	90,322,868 (GRCm39)	missense	probably benign	0.01
R5243:Ints3	UTSW	3	90,308,451 (GRCm39)	frame shift	probably null
R5454:Ints3	UTSW	3	90,315,834 (GRCm39)	missense	possibly damaging	0.72
R5678:Ints3	UTSW	3	90,310,855 (GRCm39)	missense	probably damaging	0.99
R6123:Ints3	UTSW	3	90,320,861 (GRCm39)	missense	probably benign	0.01
R6548:Ints3	UTSW	3	90,299,431 (GRCm39)	unclassified	probably benign
R6916:Ints3	UTSW	3	90,313,641 (GRCm39)	missense	probably damaging	1.00
R7265:Ints3	UTSW	3	90,311,290 (GRCm39)	critical splice donor site	probably null
R7332:Ints3	UTSW	3	90,322,819 (GRCm39)	missense	probably damaging	0.98
R7699:Ints3	UTSW	3	90,329,111 (GRCm39)	missense	probably benign	0.00
R7700:Ints3	UTSW	3	90,329,111 (GRCm39)	missense	probably benign	0.00
R7790:Ints3	UTSW	3	90,307,720 (GRCm39)	missense	probably benign	0.09
R7827:Ints3	UTSW	3	90,331,319 (GRCm39)	missense	probably benign	0.11
R7915:Ints3	UTSW	3	90,340,132 (GRCm39)	missense	probably benign	0.06
R8118:Ints3	UTSW	3	90,307,606 (GRCm39)	splice site	probably null
R8119:Ints3	UTSW	3	90,299,607 (GRCm39)	missense	probably damaging	0.97
R8193:Ints3	UTSW	3	90,307,929 (GRCm39)	missense	possibly damaging	0.82
R8468:Ints3	UTSW	3	90,313,560 (GRCm39)	missense	probably damaging	0.96
R9240:Ints3	UTSW	3	90,310,410 (GRCm39)	missense	possibly damaging	0.82
R9260:Ints3	UTSW	3	90,308,468 (GRCm39)	missense	probably damaging	0.99
R9486:Ints3	UTSW	3	90,313,579 (GRCm39)	nonsense	probably null
R9634:Ints3	UTSW	3	90,318,606 (GRCm39)	missense
R9656:Ints3	UTSW	3	90,299,839 (GRCm39)	missense	probably null	0.01
R9744:Ints3	UTSW	3	90,318,605 (GRCm39)	missense	probably damaging	1.00
Z1177:Ints3	UTSW	3	90,313,663 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07