Mutagenetix > Incidental Mutation

Incidental Mutation 'R9703:Ints13'

729658

Institutional Source

Beutler Lab

Gene Symbol

Ints13

Ensembl Gene

ENSMUSG00000040250

Gene Name

integrator complex subunit 13

Synonyms

4933424B01Rik, Asun, Spata30

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R9703 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146451130-146479333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146459063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 316 (L316Q)

Ref Sequence

ENSEMBL: ENSMUSP00000032427 (fasta)

Gene Model

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

AlphaFold

Q8QZV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000032427
AA Change: L316Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032427
Gene: ENSMUSG00000040250
AA Change: L316Q

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118000
Gene: ENSMUSG00000040250
AA Change: L263Q

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

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

SMART Domains

Protein: ENSMUSP00000145229
Gene: ENSMUSG00000040250

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	T	A	8: 41,248,971 (GRCm39)	N360K	probably damaging	Het
Aoc1l2	A	G	6: 48,909,629 (GRCm39)	T625A	probably benign	Het
Apob	T	A	12: 8,030,507 (GRCm39)	L82Q	probably damaging	Het
Arhgap30	T	G	1: 171,235,339 (GRCm39)	L571R	probably damaging	Het
Atg9a	C	T	1: 75,162,431 (GRCm39)	C493Y	probably damaging	Het
Brip1	T	C	11: 85,952,830 (GRCm39)	T984A	possibly damaging	Het
Btbd9	A	G	17: 30,749,200 (GRCm39)	V38A	possibly damaging	Het
Crocc2	C	A	1: 93,130,444 (GRCm39)	D908E	probably benign	Het
Crybg3	C	G	16: 59,375,939 (GRCm39)	A58P	probably damaging	Het
Cts7	T	C	13: 61,504,350 (GRCm39)	N71S	probably damaging	Het
Ddx46	A	G	13: 55,824,635 (GRCm39)	Y962C	probably damaging	Het
Dock10	G	A	1: 80,517,540 (GRCm39)	R1373C	probably damaging	Het
Dock9	A	T	14: 121,781,989 (GRCm39)	*2043R	probably null	Het
Efs	A	T	14: 55,156,871 (GRCm39)	V388E	possibly damaging	Het
Esyt1	C	T	10: 128,354,796 (GRCm39)		probably null	Het
Extl3	G	T	14: 65,292,103 (GRCm39)	R907S	probably damaging	Het
Fcgbp	G	A	7: 27,806,400 (GRCm39)	V2123M	probably damaging	Het
Gas2l3	C	T	10: 89,249,943 (GRCm39)	A392T	probably benign	Het
Golm1	A	T	13: 59,797,433 (GRCm39)	D137E	probably benign	Het
Grxcr2	T	C	18: 42,124,988 (GRCm39)	D140G	possibly damaging	Het
H2ac19	G	A	3: 96,147,557 (GRCm39)	R4C	probably benign	Het
Hrh1	G	A	6: 114,457,979 (GRCm39)	C420Y	probably benign	Het
Iws1	T	A	18: 32,212,738 (GRCm39)	D55E	probably damaging	Het
Kcnrg	CACAACAA	CACAA	14: 61,845,009 (GRCm39)		probably benign	Het
Klrc2	G	C	6: 129,633,407 (GRCm39)	S215*	probably null	Het
Muc5b	A	G	7: 141,425,535 (GRCm39)	T4727A	possibly damaging	Het
Nsd3	T	C	8: 26,131,228 (GRCm39)	S198P	probably benign	Het
Or2n1b	A	T	17: 38,459,856 (GRCm39)	I126F	possibly damaging	Het
Or6c214	A	T	10: 129,591,286 (GRCm39)	I11N	possibly damaging	Het
Ovch2	T	A	7: 107,383,777 (GRCm39)	I523F	probably damaging	Het
Pals1	T	A	12: 78,843,850 (GRCm39)	I18K	probably benign	Het
Pcdhb1	T	A	18: 37,399,019 (GRCm39)	D323E	probably damaging	Het
Pfkl	T	A	10: 77,826,142 (GRCm39)		probably null	Het
Pigc	T	A	1: 161,798,176 (GRCm39)	F53I	probably benign	Het
Pramel29	T	A	4: 143,939,510 (GRCm39)	D9V	probably damaging	Het
Prph2	G	A	17: 47,234,447 (GRCm39)	A339T	unknown	Het
Prrc2a	T	C	17: 35,378,320 (GRCm39)	K452E	unknown	Het
Rab36	T	C	10: 74,886,474 (GRCm39)	W151R	possibly damaging	Het
Sdk1	A	G	5: 142,100,283 (GRCm39)	T1438A	possibly damaging	Het
Slc25a17	A	T	15: 81,224,193 (GRCm39)	I55K	probably damaging	Het
Smg1	A	T	7: 117,739,744 (GRCm39)	I3401N	possibly damaging	Het
Smpd3	T	A	8: 106,991,713 (GRCm39)	H280L	probably damaging	Het
Srsf10	A	G	4: 135,591,153 (GRCm39)	H202R	probably benign	Het
Swap70	C	T	7: 109,872,512 (GRCm39)	R376C	probably damaging	Het
Syde1	G	T	10: 78,421,557 (GRCm39)	L665M	probably damaging	Het
Tha1	A	G	11: 117,761,863 (GRCm39)	V126A	probably damaging	Het
Tln2	T	C	9: 67,293,938 (GRCm39)	H230R	probably damaging	Het
Tnc	G	A	4: 63,889,412 (GRCm39)	A1698V	probably benign	Het
Twist2	C	A	1: 91,729,744 (GRCm39)	S132R	probably damaging	Het
Ubr1	C	T	2: 120,732,092 (GRCm39)	C1170Y	probably damaging	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	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
IGL02988:Ints13	APN	6	146,457,646 (GRCm39)	missense	possibly damaging	0.49
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTGAAATCCGGTAAGCTCC -3'
(R):5'- ATAGAGCTCTTTTCTCTTCCAGAG -3'

Sequencing Primer
(F):5'- TCCGGTAAGCTCCAGTGCAATAG -3'
(R):5'- GCTCTTTTCTCTTCCAGAGTTTAAAC -3'

Posted On

2022-10-06