Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02988:Ints13'

406821

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ints13

Ensembl Gene

ENSMUSG00000040250

Gene Name

integrator complex subunit 13

Synonyms

4933424B01Rik, Asun, Spata30

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL02988 (G1)

Quality Score

Status

Chromosome

Chromosomal Location

146451130-146479333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146457646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 411 (T411S)

Ref Sequence

ENSEMBL: ENSMUSP00000032427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032427] [ENSMUST00000203545]

AlphaFold

Q8QZV7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032427
AA Change: T411S

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032427
Gene: ENSMUSG00000040250
AA Change: T411S

Domain	Start	End	E-Value	Type
Pfam:DUF2151	4	692	8.2e-292	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000131662
AA Change: T358S

SMART Domains

Protein: ENSMUSP00000118000
Gene: ENSMUSG00000040250
AA Change: T358S

Domain	Start	End	E-Value	Type
Pfam:DUF2151	1	394	7.2e-171	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139546

Predicted Effect

probably benign
Transcript: ENSMUST00000139979

SMART Domains

Protein: ENSMUSP00000122279
Gene: ENSMUSG00000040250

Domain	Start	End	E-Value	Type
Pfam:DUF2151	2	216	1.6e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203545
AA Change: T89S

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145229
Gene: ENSMUSG00000040250
AA Change: T89S

Domain	Start	End	E-Value	Type
Pfam:DUF2151	1	96	3.8e-48	PFAM
Pfam:DUF2151	94	313	6e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204234

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Aadacl4fm5	T	A	4: 144,513,100 (GRCm39)		probably benign	Het
Adgrd1	G	A	5: 129,221,074 (GRCm39)	A488T	probably benign	Het
Ano3	T	C	2: 110,605,355 (GRCm39)	S284G	probably damaging	Het
Aox1	G	T	1: 58,376,509 (GRCm39)	V897L	probably benign	Het
Arl6	T	A	16: 59,434,209 (GRCm39)		probably null	Het
Blnk	G	A	19: 40,917,660 (GRCm39)	T441M	probably damaging	Het
Casp8ap2	C	T	4: 32,644,590 (GRCm39)	T1221I	probably benign	Het
Cbll1	A	T	12: 31,542,171 (GRCm39)	F63L	possibly damaging	Het
Cdk14	A	G	5: 5,086,484 (GRCm39)	Y279H	probably damaging	Het
Cflar	A	T	1: 58,780,190 (GRCm39)	I265F	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Cyp3a13	A	T	5: 137,897,272 (GRCm39)	Y347*	probably null	Het
Defa27	T	C	8: 21,805,583 (GRCm39)	S8P	probably damaging	Het
Depdc5	A	C	5: 33,113,511 (GRCm39)		probably null	Het
Dlg5	A	G	14: 24,216,323 (GRCm39)	F573S	probably damaging	Het
Fam20c	A	T	5: 138,741,749 (GRCm39)	E120V	probably benign	Het
Fam53a	T	C	5: 33,764,819 (GRCm39)	K296E	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fndc1	T	C	17: 7,972,355 (GRCm39)	T1526A	possibly damaging	Het
Gm14325	A	C	2: 177,476,042 (GRCm39)		probably null	Het
Gm7582	G	A	1: 85,019,588 (GRCm39)		noncoding transcript	Het
Golga7b	A	C	19: 42,255,239 (GRCm39)	Y63S	probably damaging	Het
Hexb	A	G	13: 97,334,729 (GRCm39)	L14P	unknown	Het
Hsd17b3	A	C	13: 64,236,914 (GRCm39)	L10R	probably damaging	Het
Il6st	T	C	13: 112,635,420 (GRCm39)	F611L	probably damaging	Het
Kif18b	C	A	11: 102,799,146 (GRCm39)	C685F	probably damaging	Het
Kif5c	A	G	2: 49,509,729 (GRCm39)	N19S	probably damaging	Het
Lmbr1	G	T	5: 29,497,221 (GRCm39)		probably null	Het
Minar1	A	G	9: 89,484,792 (GRCm39)	S202P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrc2	G	A	11: 105,216,397 (GRCm39)	R62Q	probably benign	Het
Myo1g	T	C	11: 6,458,183 (GRCm39)		probably benign	Het
Myo5a	A	T	9: 75,037,423 (GRCm39)		probably benign	Het
Nobox	G	A	6: 43,282,095 (GRCm39)	S326L	possibly damaging	Het
Nsl1	C	A	1: 190,795,300 (GRCm39)	S22*	probably null	Het
Or5b3	A	C	19: 13,388,826 (GRCm39)	K298Q	possibly damaging	Het
Or5j3	T	C	2: 86,128,823 (GRCm39)	I221T	probably damaging	Het
Pdia3	T	A	2: 121,260,037 (GRCm39)	L192Q	probably damaging	Het
Pkd2	A	T	5: 104,651,471 (GRCm39)	R940*	probably null	Het
Plcd3	T	A	11: 102,967,568 (GRCm39)	Q458L	probably benign	Het
Polm	T	A	11: 5,786,343 (GRCm39)	T75S	probably benign	Het
Pon3	T	A	6: 5,232,330 (GRCm39)	D230V	possibly damaging	Het
Pxdn	A	T	12: 30,053,113 (GRCm39)	K917*	probably null	Het
Rad54l2	A	G	9: 106,577,784 (GRCm39)	S1046P	probably benign	Het
Rb1cc1	T	C	1: 6,318,035 (GRCm39)		probably null	Het
Rnf215	A	G	11: 4,086,785 (GRCm39)	E194G	probably damaging	Het
Rorb	A	T	19: 18,915,336 (GRCm39)	F441I	probably damaging	Het
Sel1l2	C	A	2: 140,090,508 (GRCm39)	G378V	probably damaging	Het
Sema6a	G	T	18: 47,431,281 (GRCm39)	A139D	probably damaging	Het
Serpinb3d	A	T	1: 107,006,266 (GRCm39)	M274K	probably benign	Het
Siglec15	A	C	18: 78,092,462 (GRCm39)	L32R	probably damaging	Het
Siglecg	A	T	7: 43,067,476 (GRCm39)	D681V	probably damaging	Het
Slc6a13	G	T	6: 121,303,066 (GRCm39)		probably benign	Het
Slc9b2	G	T	3: 135,024,179 (GRCm39)	A77S	probably benign	Het
Slit3	T	A	11: 35,598,890 (GRCm39)	V1498D	probably damaging	Het
Snorc	A	G	1: 87,402,926 (GRCm39)		probably null	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Stxbp2	T	C	8: 3,683,267 (GRCm39)		probably benign	Het
Tbc1d9b	T	C	11: 50,042,773 (GRCm39)	S482P	possibly damaging	Het
Tec	A	G	5: 72,926,090 (GRCm39)	S321P	possibly damaging	Het
Tenm3	A	G	8: 48,688,381 (GRCm39)	M2402T	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tm4sf1	A	T	3: 57,200,537 (GRCm39)		probably null	Het
Tmcc1	T	C	6: 116,019,889 (GRCm39)	E306G	probably damaging	Het
Traf3ip3	A	T	1: 192,877,182 (GRCm39)		probably null	Het
Utf1	C	T	7: 139,523,875 (GRCm39)	P30L	possibly damaging	Het
Wdfy3	A	T	5: 102,077,847 (GRCm39)	C880S	probably damaging	Het

Other mutations in Ints13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Ints13	APN	6	146,467,174 (GRCm39)	missense	probably damaging	1.00
IGL02085:Ints13	APN	6	146,451,437 (GRCm39)	utr 3 prime	probably benign
IGL02439:Ints13	APN	6	146,455,721 (GRCm39)	splice site	probably benign
IGL02512:Ints13	APN	6	146,477,855 (GRCm39)	missense	probably damaging	1.00
IGL02523:Ints13	APN	6	146,459,109 (GRCm39)	missense	probably benign	0.09
R0083:Ints13	UTSW	6	146,452,162 (GRCm39)	missense	probably benign	0.06
R0085:Ints13	UTSW	6	146,476,285 (GRCm39)	splice site	probably benign
R0184:Ints13	UTSW	6	146,456,542 (GRCm39)	missense	probably benign	0.26
R0656:Ints13	UTSW	6	146,453,959 (GRCm39)	missense	probably benign	0.19
R1808:Ints13	UTSW	6	146,455,695 (GRCm39)	missense	probably damaging	1.00
R1838:Ints13	UTSW	6	146,468,109 (GRCm39)	missense	possibly damaging	0.92
R1906:Ints13	UTSW	6	146,453,868 (GRCm39)	critical splice donor site	probably null
R2140:Ints13	UTSW	6	146,477,929 (GRCm39)	missense	probably damaging	1.00
R3082:Ints13	UTSW	6	146,476,205 (GRCm39)	missense	possibly damaging	0.92
R5568:Ints13	UTSW	6	146,477,855 (GRCm39)	missense	probably damaging	1.00
R5757:Ints13	UTSW	6	146,451,604 (GRCm39)	missense	probably benign	0.01
R5770:Ints13	UTSW	6	146,456,571 (GRCm39)	missense	probably damaging	0.98
R5809:Ints13	UTSW	6	146,477,847 (GRCm39)	missense	probably benign	0.06
R6273:Ints13	UTSW	6	146,467,179 (GRCm39)	missense	probably damaging	1.00
R6882:Ints13	UTSW	6	146,464,939 (GRCm39)	missense	probably null	0.18
R6908:Ints13	UTSW	6	146,456,531 (GRCm39)	missense	probably damaging	0.99
R7089:Ints13	UTSW	6	146,476,216 (GRCm39)	missense	probably damaging	1.00
R7425:Ints13	UTSW	6	146,476,198 (GRCm39)	critical splice donor site	probably null
R7660:Ints13	UTSW	6	146,458,836 (GRCm39)	missense	probably benign	0.24
R7957:Ints13	UTSW	6	146,452,264 (GRCm39)	missense	probably damaging	0.99
R8529:Ints13	UTSW	6	146,464,926 (GRCm39)	missense	probably damaging	0.98
R8847:Ints13	UTSW	6	146,457,631 (GRCm39)	missense	probably benign	0.01
R9368:Ints13	UTSW	6	146,467,129 (GRCm39)	missense	probably null	0.99
R9703:Ints13	UTSW	6	146,459,063 (GRCm39)	missense	probably damaging	1.00
R9777:Ints13	UTSW	6	146,463,326 (GRCm39)	missense	probably damaging	0.99
RF011:Ints13	UTSW	6	146,457,738 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02