Mutagenetix > Incidental Mutation

Incidental Mutation 'R6908:Ints13'

538860

Institutional Source

Beutler Lab

Gene Symbol

Ints13

Ensembl Gene

ENSMUSG00000040250

Gene Name

integrator complex subunit 13

Synonyms

Spata30, 4933424B01Rik, Asun

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R6908 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146549632-146577835 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146555033 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 438 (D438E)

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: D438E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032427
Gene: ENSMUSG00000040250
AA Change: D438E

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118000
Gene: ENSMUSG00000040250
AA Change: D385E

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: 99.4%
20x: 98.2%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,657,305	I1197T	probably benign	Het
Atp2a1	A	G	7: 126,448,535		probably null	Het
B3glct	T	C	5: 149,696,476		probably null	Het
Bbs9	T	G	9: 22,567,723	I154S	probably damaging	Het
Brip1	T	C	11: 86,077,884	Y825C	probably damaging	Het
Ccdc186	A	T	19: 56,791,939		probably null	Het
Celf6	T	C	9: 59,603,823	V349A	probably benign	Het
Chd9	A	G	8: 90,956,416	T495A	probably benign	Het
Cxxc1	G	A	18: 74,220,559	C546Y	probably damaging	Het
Cxxc5	T	C	18: 35,859,215	V223A	probably damaging	Het
Dlc1	A	G	8: 36,937,687	F316S	probably benign	Het
Dnajc12	C	A	10: 63,397,325	Q82K	probably benign	Het
Dock8	G	A	19: 25,188,382	E1877K	probably damaging	Het
Epha3	T	G	16: 63,598,249	H611P	probably damaging	Het
Fpr-rs6	C	A	17: 20,182,439	C220F	probably damaging	Het
Fryl	A	G	5: 73,022,211	L2951P	probably damaging	Het
Gbp10	T	G	5: 105,221,032	T314P	probably damaging	Het
Hbb-bs	T	C	7: 103,827,534	N77D	probably benign	Het
Itgb6	C	T	2: 60,650,021	V324M	probably benign	Het
Kdm7a	G	T	6: 39,144,439	L861M	possibly damaging	Het
Kirrel3	A	G	9: 35,013,401	T302A	possibly damaging	Het
Lama2	A	T	10: 27,031,196		probably null	Het
Lrp2	A	T	2: 69,472,365	C3007S	probably damaging	Het
Lypd3	G	C	7: 24,638,433	G75R	probably damaging	Het
Mastl	T	C	2: 23,155,976		probably benign	Het
Mcf2l	T	C	8: 13,018,919	V1087A	probably benign	Het
Mcmdc2	C	A	1: 9,930,778		probably null	Het
Ms4a3	A	G	19: 11,638,295	I39T	probably damaging	Het
Mylk	T	G	16: 34,880,273	C495G	probably benign	Het
Myo10	A	G	15: 25,804,383	D1588G	probably damaging	Het
Myo15	A	T	11: 60,506,006	T2634S	probably damaging	Het
Nlrp1b	T	C	11: 71,217,296	I460V	probably benign	Het
Nmt1	T	G	11: 103,058,254	S312A	possibly damaging	Het
Nynrin	T	G	14: 55,863,878	S335A	probably benign	Het
Olfr710	T	C	7: 106,944,632	Y123C	possibly damaging	Het
Paxip1	T	C	5: 27,791,224	Y19C	possibly damaging	Het
Pcdhb2	G	T	18: 37,296,524	A517S	probably damaging	Het
Pkd2l1	A	G	19: 44,152,446	I559T	probably damaging	Het
Plec	G	A	15: 76,185,881	Q806*	probably null	Het
Prss51	C	T	14: 64,096,152	A70V	probably benign	Het
Psd3	A	T	8: 67,964,177	I356K	probably benign	Het
Ptprn2	A	T	12: 116,888,888	I522F	probably benign	Het
Rab39	T	C	9: 53,706,069	D16G	probably damaging	Het
Ralgps1	T	C	2: 33,143,100	Q439R	probably benign	Het
Rapgef2	A	T	3: 79,104,063	D238E	probably benign	Het
Ripor2	G	A	13: 24,706,232	G697S	probably damaging	Het
Scn11a	A	T	9: 119,792,426	F642I	probably damaging	Het
Serinc4	G	A	2: 121,453,605	T310I	probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 127,021,626		probably benign	Het
Slc36a3	T	C	11: 55,149,886		probably benign	Het
Smc1b	A	G	15: 85,107,010	S656P	probably damaging	Het
Sorbs1	A	G	19: 40,352,332	S455P	probably damaging	Het
Ttn	C	A	2: 76,889,858		probably benign	Het
Tyw5	T	C	1: 57,401,523	R27G	probably damaging	Het
Vmn1r209	T	C	13: 22,806,230	T97A	possibly damaging	Het

Other mutations in Ints13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Ints13	APN	6	146565676	missense	probably damaging	1.00
IGL02085:Ints13	APN	6	146549939	utr 3 prime	probably benign
IGL02439:Ints13	APN	6	146554223	splice site	probably benign
IGL02512:Ints13	APN	6	146576357	missense	probably damaging	1.00
IGL02523:Ints13	APN	6	146557611	missense	probably benign	0.09
IGL02988:Ints13	APN	6	146556148	missense	possibly damaging	0.49
R0083:Ints13	UTSW	6	146550664	missense	probably benign	0.06
R0085:Ints13	UTSW	6	146574787	splice site	probably benign
R0184:Ints13	UTSW	6	146555044	missense	probably benign	0.26
R0656:Ints13	UTSW	6	146552461	missense	probably benign	0.19
R1808:Ints13	UTSW	6	146554197	missense	probably damaging	1.00
R1838:Ints13	UTSW	6	146566611	missense	possibly damaging	0.92
R1906:Ints13	UTSW	6	146552370	critical splice donor site	probably null
R2140:Ints13	UTSW	6	146576431	missense	probably damaging	1.00
R3082:Ints13	UTSW	6	146574707	missense	possibly damaging	0.92
R5568:Ints13	UTSW	6	146576357	missense	probably damaging	1.00
R5757:Ints13	UTSW	6	146550106	missense	probably benign	0.01
R5770:Ints13	UTSW	6	146555073	missense	probably damaging	0.98
R5809:Ints13	UTSW	6	146576349	missense	probably benign	0.06
R6273:Ints13	UTSW	6	146565681	missense	probably damaging	1.00
R6882:Ints13	UTSW	6	146563441	missense	probably null	0.18
R7089:Ints13	UTSW	6	146574718	missense	probably damaging	1.00
R7425:Ints13	UTSW	6	146574700	critical splice donor site	probably null
R7660:Ints13	UTSW	6	146557338	missense	probably benign	0.24
R7957:Ints13	UTSW	6	146550766	missense	probably damaging	0.99
R8529:Ints13	UTSW	6	146563428	missense	probably damaging	0.98
R8847:Ints13	UTSW	6	146556133	missense	probably benign	0.01
R9368:Ints13	UTSW	6	146565631	missense	probably null	0.99
R9703:Ints13	UTSW	6	146557565	missense	probably damaging	1.00
R9777:Ints13	UTSW	6	146561828	missense	probably damaging	0.99
RF011:Ints13	UTSW	6	146556240	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAACACCATAACTGCTGCTTCTG -3'
(R):5'- AGAGAAAGGGCTTTGCTGGC -3'

Sequencing Primer
(F):5'- CTTGCTTGAGAAATGGCACC -3'
(R):5'- TTTGCTGGCAGTCACAGGAC -3'

Posted On

2018-11-06