Mutagenetix > Incidental Mutation

Incidental Mutation 'R2920:Ints3'

255454

Institutional Source

Beutler Lab

Gene Symbol

Ints3

Ensembl Gene

ENSMUSG00000027933

Gene Name

integrator complex subunit 3

Synonyms

MMRRC Submission

040505-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R2920 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

90391388-90433622 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90393162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 884 (E884G)

Ref Sequence

ENSEMBL: ENSMUSP00000143196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029541] [ENSMUST00000029542] [ENSMUST00000071488] [ENSMUST00000196530]

AlphaFold

Q7TPD0

Predicted Effect

probably benign
Transcript: ENSMUST00000029541

SMART Domains

Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	38	56	N/A	INTRINSIC
Pfam:AMP-binding	138	535	9.2e-62	PFAM
Pfam:AMP-binding_C	543	619	9.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000029542
AA Change: E884G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933
AA Change: E884G

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: E884G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933
AA Change: E884G

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

noncoding transcript
Transcript: ENSMUST00000127064

Predicted Effect

probably benign
Transcript: ENSMUST00000132041

SMART Domains

Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932

Domain	Start	End	E-Value	Type
low complexity region	40	64	N/A	INTRINSIC
low complexity region	68	89	N/A	INTRINSIC
low complexity region	91	106	N/A	INTRINSIC
Pfam:AMP-binding	147	501	5.3e-50	PFAM
Pfam:AMP-binding_C	509	585	2.9e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153978

Predicted Effect

probably benign
Transcript: ENSMUST00000196530
AA Change: E884G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933
AA Change: E884G

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: ENSMUST00000198776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199992

Meta Mutation Damage Score

0.1068

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

96% (48/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,390,243	Y1025H	probably damaging	Het
Adgrv1	C	T	13: 81,448,865	A4122T	probably benign	Het
Aloxe3	C	T	11: 69,142,923	T621I	probably damaging	Het
Atp2b3	A	C	X: 73,533,920	T318P	probably benign	Het
Atrx	A	T	X: 105,830,868	V1962D	probably benign	Het
Chl1	C	A	6: 103,695,343	T531K	probably damaging	Het
Clca3b	T	A	3: 144,837,853	D405V	probably benign	Het
Clca3b	C	T	3: 144,846,931	D115N	probably benign	Het
Comtd1	A	G	14: 21,847,618	L149P	possibly damaging	Het
Cops7a	A	G	6: 124,962,362	V108A	probably benign	Het
Crebbp	A	G	16: 4,119,082	V343A	probably damaging	Het
Edrf1	T	A	7: 133,667,572	D1109E	probably benign	Het
Elmo3	A	G	8: 105,308,059	E359G	possibly damaging	Het
Ep400	C	A	5: 110,755,914	G273V	probably damaging	Het
Fgfr3	A	G	5: 33,733,940	N516S	probably damaging	Het
Glb1l	T	A	1: 75,209,190	E31D	probably benign	Het
Gm10093	A	G	17: 78,492,846	D422G	probably damaging	Het
Il12rb2	C	T	6: 67,360,568	V110I	probably damaging	Het
Lin7b	A	G	7: 45,368,397	V170A	possibly damaging	Het
Lrch2	A	T	X: 147,473,030	V750E	probably damaging	Het
Mepe	C	T	5: 104,338,247	R418C	probably damaging	Het
Mettl25	A	T	10: 105,765,177		probably null	Het
Mphosph9	G	A	5: 124,261,006	T982I	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myo10	G	T	15: 25,801,140	V1472L	probably damaging	Het
Myo9b	A	G	8: 71,325,857	K445R	probably damaging	Het
Ntng2	T	C	2: 29,204,211	M383V	probably benign	Het
Olfr1353	A	C	10: 78,970,012	D121A	probably damaging	Het
Olfr30	T	C	11: 58,455,577	Y124C	probably damaging	Het
Olfr702	C	T	7: 106,824,364	R54Q	probably benign	Het
Pak6	A	T	2: 118,694,007		probably benign	Het
Pcdh8	G	T	14: 79,768,714	P803Q	possibly damaging	Het
Pfkfb3	C	T	2: 11,484,327	V286I	probably benign	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rint1	A	G	5: 23,805,402	E203G	probably benign	Het
Sdf2	G	C	11: 78,254,854	V126L	probably damaging	Het
Slc13a5	T	C	11: 72,247,791	E442G	possibly damaging	Het
Slc14a2	G	T	18: 78,158,297	S669*	probably null	Het
Slc38a7	A	G	8: 95,845,943	I157T	possibly damaging	Het
Slc4a5	T	C	6: 83,264,387	L215P	probably damaging	Het
Tbc1d9	T	C	8: 83,210,469	V60A	probably benign	Het
Tcerg1l	T	C	7: 138,248,379	R422G	probably damaging	Het
Tmem107	T	C	11: 69,071,421	L68P	probably damaging	Het
Ugt2b5	A	G	5: 87,125,407	F467L	possibly damaging	Het
Vmn1r19	A	T	6: 57,404,924	N154I	probably benign	Het
Vmn2r69	T	A	7: 85,411,765	I204L	probably benign	Het
Zbtb1	T	A	12: 76,385,845	S202T	possibly damaging	Het

Other mutations in Ints3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Ints3	APN	3	90406329	missense	probably damaging	1.00
IGL01339:Ints3	APN	3	90415156	critical splice donor site	probably null
IGL01398:Ints3	APN	3	90392823	missense	probably damaging	1.00
IGL01599:Ints3	APN	3	90394322	critical splice donor site	probably null
IGL01864:Ints3	APN	3	90415179	missense	probably benign	0.33
IGL01984:Ints3	APN	3	90392226	missense	possibly damaging	0.79
IGL02325:Ints3	APN	3	90404042	missense	probably damaging	1.00
IGL02516:Ints3	APN	3	90403108	missense	probably damaging	1.00
IGL02867:Ints3	APN	3	90392836	missense	probably damaging	1.00
IGL02889:Ints3	APN	3	90392836	missense	probably damaging	1.00
IGL02975:Ints3	APN	3	90401837	splice site	probably benign
PIT4431001:Ints3	UTSW	3	90396460	missense	probably damaging	0.99
R0003:Ints3	UTSW	3	90408511	missense	probably benign	0.00
R0003:Ints3	UTSW	3	90408511	missense	probably benign	0.00
R0069:Ints3	UTSW	3	90400647	splice site	probably benign
R0069:Ints3	UTSW	3	90400647	splice site	probably benign
R1450:Ints3	UTSW	3	90432828	missense	probably damaging	1.00
R1985:Ints3	UTSW	3	90400303	critical splice donor site	probably null
R2324:Ints3	UTSW	3	90394094	missense	probably damaging	1.00
R2425:Ints3	UTSW	3	90394110	missense	possibly damaging	0.91
R3937:Ints3	UTSW	3	90403987	nonsense	probably null
R4678:Ints3	UTSW	3	90408510	missense	possibly damaging	0.47
R4679:Ints3	UTSW	3	90408510	missense	possibly damaging	0.47
R4719:Ints3	UTSW	3	90415521	missense	probably benign	0.20
R4726:Ints3	UTSW	3	90393777	missense	probably damaging	1.00
R4993:Ints3	UTSW	3	90415507	missense	probably benign	0.05
R5154:Ints3	UTSW	3	90415561	missense	probably benign	0.01
R5243:Ints3	UTSW	3	90401144	frame shift	probably null
R5454:Ints3	UTSW	3	90408527	missense	possibly damaging	0.72
R5678:Ints3	UTSW	3	90403548	missense	probably damaging	0.99
R6123:Ints3	UTSW	3	90413554	missense	probably benign	0.01
R6548:Ints3	UTSW	3	90392124	unclassified	probably benign
R6916:Ints3	UTSW	3	90406334	missense	probably damaging	1.00
R7265:Ints3	UTSW	3	90403983	critical splice donor site	probably null
R7332:Ints3	UTSW	3	90415512	missense	probably damaging	0.98
R7699:Ints3	UTSW	3	90421804	missense	probably benign	0.00
R7700:Ints3	UTSW	3	90421804	missense	probably benign	0.00
R7790:Ints3	UTSW	3	90400413	missense	probably benign	0.09
R7827:Ints3	UTSW	3	90424012	missense	probably benign	0.11
R7915:Ints3	UTSW	3	90432825	missense	probably benign	0.06
R8118:Ints3	UTSW	3	90400299	splice site	probably null
R8119:Ints3	UTSW	3	90392300	missense	probably damaging	0.97
R8193:Ints3	UTSW	3	90400622	missense	possibly damaging	0.82
R8468:Ints3	UTSW	3	90406253	missense	probably damaging	0.96
R9240:Ints3	UTSW	3	90403103	missense	possibly damaging	0.82
R9260:Ints3	UTSW	3	90401161	missense	probably damaging	0.99
R9486:Ints3	UTSW	3	90406272	nonsense	probably null
R9634:Ints3	UTSW	3	90411299	missense
R9656:Ints3	UTSW	3	90392532	missense	probably null	0.01
R9744:Ints3	UTSW	3	90411298	missense	probably damaging	1.00
Z1177:Ints3	UTSW	3	90406356	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGAGGCAGTCCTAAGTGG -3'
(R):5'- TTTGGGAAATCAGTAAGCGACAC -3'

Sequencing Primer
(F):5'- AGTCCTAAGTGGCACAGTGCTG -3'
(R):5'- GTAAGCGACACTGTAGCCATTC -3'

Posted On

2014-12-29