Mutagenetix > Incidental Mutation

Incidental Mutation 'R7827:Ints3'

602226

Institutional Source

Beutler Lab

Gene Symbol

Ints3

Ensembl Gene

ENSMUSG00000027933

Gene Name

integrator complex subunit 3

Synonyms

MMRRC Submission

045881-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R7827 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90298695-90340929 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90331319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 75 (N75D)

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: N75D

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933
AA Change: N75D

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: N75D

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933
AA Change: N75D

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: N75D

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933
AA Change: N75D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,651,112 (GRCm39)	N78S	probably damaging	Het
Abca12	G	A	1: 71,453,837 (GRCm39)		probably benign	Het
Abcb1b	T	C	5: 8,887,747 (GRCm39)	S878P	probably damaging	Het
Adamts20	T	C	15: 94,223,814 (GRCm39)	R1305G	probably damaging	Het
Adcy2	A	T	13: 68,837,400 (GRCm39)	C650S	probably damaging	Het
Ahnak	A	T	19: 8,982,708 (GRCm39)	K1331*	probably null	Het
Alpk1	A	T	3: 127,473,700 (GRCm39)	S768T	probably benign	Het
Ap4b1	T	G	3: 103,722,398 (GRCm39)	L124R	probably damaging	Het
Arrdc2	A	T	8: 71,292,038 (GRCm39)	F3Y	probably damaging	Het
Atp9a	A	G	2: 168,547,114 (GRCm39)	V155A	probably benign	Het
Bptf	A	G	11: 106,938,013 (GRCm39)	S87P	probably benign	Het
Carmil1	A	T	13: 24,220,421 (GRCm39)	M697K	probably benign	Het
Ccdc42	G	A	11: 68,485,022 (GRCm39)	V32M	probably benign	Het
Cert1	A	G	13: 96,753,563 (GRCm39)	H391R	probably damaging	Het
Ces1d	A	G	8: 93,924,294 (GRCm39)		probably null	Het
Dcpp2	T	G	17: 24,119,566 (GRCm39)	Y127D	probably damaging	Het
Def8	C	A	8: 124,174,060 (GRCm39)	T7K	probably benign	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
En2	G	A	5: 28,371,594 (GRCm39)	G24S	probably benign	Het
Evi2a	T	C	11: 79,418,688 (GRCm39)		probably benign	Het
Fam117b	A	T	1: 59,952,837 (GRCm39)	H172L	possibly damaging	Het
Fam169b	A	G	7: 67,954,338 (GRCm39)	I67M	probably benign	Het
Fbxo40	T	A	16: 36,789,861 (GRCm39)	E416D	probably damaging	Het
Gja8	T	A	3: 96,827,635 (GRCm39)	N9I	possibly damaging	Het
Gsg1l2	T	A	11: 67,676,097 (GRCm39)	C154S	probably benign	Het
Hdhd3	C	A	4: 62,418,232 (GRCm39)		probably benign	Het
Hunk	C	T	16: 90,278,214 (GRCm39)	P341L	possibly damaging	Het
Ighv8-5	T	C	12: 115,031,258 (GRCm39)	T94A	possibly damaging	Het
Krt39	T	C	11: 99,409,901 (GRCm39)	E212G	probably damaging	Het
Ldlrad4	A	G	18: 68,387,495 (GRCm39)	H269R	probably damaging	Het
Lrrc2	T	A	9: 110,790,049 (GRCm39)	V102E	possibly damaging	Het
Ltbp2	T	A	12: 84,836,655 (GRCm39)	I1292L	probably benign	Het
Mad2l1bp	A	T	17: 46,458,993 (GRCm39)	V179E	possibly damaging	Het
Map3k1	A	G	13: 111,892,663 (GRCm39)	V864A	probably benign	Het
Mapk8ip2	T	G	15: 89,342,322 (GRCm39)	V511G	probably damaging	Het
Mknk2	A	C	10: 80,503,021 (GRCm39)	S434A	probably benign	Het
Mllt11	A	G	3: 95,127,548 (GRCm39)	F74S	probably damaging	Het
Muc16	G	T	9: 18,506,519 (GRCm39)	T6412K	possibly damaging	Het
Nek5	C	A	8: 22,573,403 (GRCm39)	A518S	possibly damaging	Het
Npy1r	T	C	8: 67,156,864 (GRCm39)	F95L	possibly damaging	Het
Nup98	G	A	7: 101,773,569 (GRCm39)	T1586I	probably benign	Het
Olig3	A	T	10: 19,232,518 (GRCm39)	M48L	probably benign	Het
Or13n4	A	G	7: 106,422,932 (GRCm39)	M267T	probably benign	Het
Or14j7	T	A	17: 38,234,568 (GRCm39)	L37*	probably null	Het
Or5b120	T	G	19: 13,480,587 (GRCm39)	N293K	probably damaging	Het
Or6aa1	T	A	7: 86,043,765 (GRCm39)	K314*	probably null	Het
Pcdhb16	A	G	18: 37,611,904 (GRCm39)	D288G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,790,886 (GRCm39)	I687V	probably benign	Het
Piezo1	G	A	8: 123,209,659 (GRCm39)	T2348M	probably damaging	Het
Plod3	A	G	5: 137,018,835 (GRCm39)	T291A	probably benign	Het
Pmpca	G	A	2: 26,280,144 (GRCm39)	V89I	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Pou6f2	C	A	13: 18,553,092 (GRCm39)	A81S		Het
Ppl	T	A	16: 4,905,828 (GRCm39)	E1489V	probably damaging	Het
Ptpdc1	A	G	13: 48,733,264 (GRCm39)	F792S	probably damaging	Het
Pus1	A	G	5: 110,927,582 (GRCm39)	Y58H	probably damaging	Het
Rex2	C	A	4: 147,142,547 (GRCm39)	T345N	possibly damaging	Het
Rnf144a	T	C	12: 26,389,439 (GRCm39)	M1V	probably null	Het
Siglec15	A	T	18: 78,100,445 (GRCm39)	C13*	probably null	Het
Skint10	G	A	4: 112,632,003 (GRCm39)	Q6*	probably null	Het
Slc5a1	T	C	5: 33,304,057 (GRCm39)	W291R	probably damaging	Het
Snx27	A	G	3: 94,426,366 (GRCm39)	F378L	probably benign	Het
Strip2	A	T	6: 29,923,928 (GRCm39)	T81S	probably benign	Het
Tas2r143	A	G	6: 42,377,656 (GRCm39)	N162S	probably damaging	Het
Tatdn1	T	C	15: 58,776,607 (GRCm39)	D256G	probably benign	Het
Tbc1d5	A	G	17: 51,089,291 (GRCm39)	S630P	probably damaging	Het
Tlr11	A	G	14: 50,598,611 (GRCm39)	D199G	probably benign	Het
Tmed8	C	A	12: 87,246,991 (GRCm39)		probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttll3	TAA	TAAAGCAA	6: 113,376,123 (GRCm39)		probably null	Het
U2af2	T	C	7: 5,077,661 (GRCm39)		probably null	Het
Ywhag	C	T	5: 135,940,394 (GRCm39)	E67K	probably damaging	Het
Zfp105	A	G	9: 122,759,808 (GRCm39)	H493R	probably damaging	Het
Zfp426	A	T	9: 20,381,446 (GRCm39)	C514S	probably damaging	Het
Zfp536	T	A	7: 37,269,113 (GRCm39)	D101V	probably damaging	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
IGL01864:Ints3	APN	3	90,322,486 (GRCm39)	missense	probably benign	0.33
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
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

Predicted Primers

PCR Primer
(F):5'- GACTGAGCTTTTAAGTTGTTATATGAC -3'
(R):5'- TGCTAGTGACCACTCTACTTGAA -3'

Sequencing Primer
(F):5'- GAGTATGATACCAGCCTGGATTCC -3'
(R):5'- GACCACTCTACTTGAAGAGATTTTC -3'

Posted On

2019-12-03