Mutagenetix > Incidental Mutation

Incidental Mutation 'R0027:Ints15'

44512

Institutional Source

Beutler Lab

Gene Symbol

Ints15

Ensembl Gene

ENSMUSG00000039244

Gene Name

integrator complex subunit 15

Synonyms

E130309D02Rik

MMRRC Submission

038322-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R0027 (G1) of strain 730

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

143286950-143301115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 143293817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 220 (T220I)

Ref Sequence

ENSEMBL: ENSMUSP00000041800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046418]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000046418
AA Change: T220I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041800
Gene: ENSMUSG00000039244
AA Change: T220I

Domain	Start	End	E-Value	Type
Pfam:DUF4507	2	380	4.8e-128	PFAM
low complexity region	417	434	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159406

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162332

Meta Mutation Damage Score

0.6451

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,285,959 (GRCm39)	I723F	probably damaging	Het
Anapc1	G	T	2: 128,483,431 (GRCm39)	D1221E	possibly damaging	Het
Arhgef28	T	A	13: 98,082,204 (GRCm39)	E1201V	possibly damaging	Het
Capn12	T	A	7: 28,581,385 (GRCm39)	H79Q	probably benign	Het
Caprin1	A	T	2: 103,605,925 (GRCm39)		probably benign	Het
Carmil3	T	A	14: 55,731,860 (GRCm39)	F196Y	probably damaging	Het
Casp8ap2	A	G	4: 32,643,810 (GRCm39)	H961R	probably benign	Het
Cdkl3	C	T	11: 51,923,176 (GRCm39)		probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Col13a1	A	G	10: 61,685,940 (GRCm39)	L684P	unknown	Het
D430041D05Rik	A	T	2: 104,085,389 (GRCm39)	F1053L	probably benign	Het
Dab1	T	C	4: 104,561,396 (GRCm39)		probably benign	Het
Dmxl1	A	T	18: 50,090,362 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eml1	T	C	12: 108,502,557 (GRCm39)	C708R	possibly damaging	Het
Fam131b	T	A	6: 42,295,182 (GRCm39)	M304L	probably benign	Het
Foxk1	A	T	5: 142,436,095 (GRCm39)	I321F	probably damaging	Het
Gm10306	C	T	4: 94,445,027 (GRCm39)		probably benign	Het
Gm10985	TA	TANA	3: 53,752,677 (GRCm39)		probably null	Het
Gse1	T	C	8: 121,293,285 (GRCm39)		probably benign	Het
Hcn3	A	G	3: 89,067,132 (GRCm39)	S79P	probably damaging	Het
Hspa4	T	A	11: 53,174,412 (GRCm39)	M203L	probably benign	Het
Kctd7	G	A	5: 130,181,414 (GRCm39)	R279H	probably damaging	Het
Kif11	C	T	19: 37,395,431 (GRCm39)		probably benign	Het
Klf13	T	C	7: 63,541,509 (GRCm39)	N206S	probably benign	Het
Kpna7	A	T	5: 144,926,507 (GRCm39)	Y482N	probably damaging	Het
Lamc1	T	C	1: 153,138,329 (GRCm39)	Y175C	probably damaging	Het
Lrpprc	G	A	17: 85,074,435 (GRCm39)	R491*	probably null	Het
Madd	T	A	2: 90,982,894 (GRCm39)	I1350F	probably damaging	Het
Mbtd1	T	C	11: 93,815,375 (GRCm39)	V321A	possibly damaging	Het
Mon2	G	A	10: 122,871,953 (GRCm39)	S357L	possibly damaging	Het
Ndst3	A	G	3: 123,465,162 (GRCm39)	V270A	probably damaging	Het
Nlrp2	T	C	7: 5,325,447 (GRCm39)	T742A	probably damaging	Het
Nopchap1	G	A	10: 83,200,393 (GRCm39)		probably benign	Het
Or6d14	T	C	6: 116,533,910 (GRCm39)	S175P	probably damaging	Het
Papola	A	C	12: 105,799,395 (GRCm39)	S675R	probably benign	Het
Pcdh9	T	A	14: 94,126,081 (GRCm39)	I30F	probably null	Het
Prl6a1	T	A	13: 27,502,011 (GRCm39)	L126Q	probably damaging	Het
Prr29	A	G	11: 106,267,102 (GRCm39)	E89G	possibly damaging	Het
Psmd1	T	C	1: 86,021,987 (GRCm39)		probably benign	Het
Rad9b	A	G	5: 122,489,786 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,430,398 (GRCm39)	V939A	probably benign	Het
Rnf135	T	A	11: 80,084,768 (GRCm39)	S180R	probably benign	Het
Sarm1	C	A	11: 78,378,917 (GRCm39)	R376L	probably damaging	Het
Scap	C	A	9: 110,208,798 (GRCm39)	P613Q	probably benign	Het
Scube3	C	T	17: 28,383,331 (GRCm39)	R374*	probably null	Het
Setx	T	G	2: 29,029,233 (GRCm39)	V167G	probably damaging	Het
Snrnp40	T	A	4: 130,262,066 (GRCm39)	H151Q	probably damaging	Het
Sox21	G	T	14: 118,473,029 (GRCm39)	H7N	probably benign	Het
Stard9	A	T	2: 120,533,982 (GRCm39)	Q3413L	probably benign	Het
Sycp1	A	G	3: 102,803,226 (GRCm39)	V528A	probably benign	Het
Tcl1b3	A	T	12: 105,157,498 (GRCm39)	S47C	probably damaging	Het
Treml4	T	C	17: 48,571,962 (GRCm39)	S122P	possibly damaging	Het
Trip11	C	T	12: 101,851,428 (GRCm39)	A879T	probably benign	Het
Ubr4	C	A	4: 139,127,704 (GRCm39)	N567K	probably damaging	Het
Zan	T	C	5: 137,404,781 (GRCm39)		probably benign	Het
Zfp804a	G	A	2: 82,087,544 (GRCm39)	D458N	probably damaging	Het
Zic2	T	C	14: 122,713,755 (GRCm39)	M223T	possibly damaging	Het

Other mutations in Ints15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02051:Ints15	APN	5	143,293,737 (GRCm39)	missense	probably damaging	1.00
Nespresso	UTSW	5	143,300,830 (GRCm39)	nonsense	probably null
R0012:Ints15	UTSW	5	143,299,937 (GRCm39)	missense	probably damaging	1.00
R0027:Ints15	UTSW	5	143,293,817 (GRCm39)	missense	probably damaging	1.00
R0310:Ints15	UTSW	5	143,293,643 (GRCm39)	missense	probably benign
R2960:Ints15	UTSW	5	143,293,776 (GRCm39)	missense	probably benign	0.28
R4646:Ints15	UTSW	5	143,293,740 (GRCm39)	missense	probably damaging	1.00
R4797:Ints15	UTSW	5	143,297,504 (GRCm39)	missense	probably benign	0.44
R4898:Ints15	UTSW	5	143,287,592 (GRCm39)	missense	probably benign
R5091:Ints15	UTSW	5	143,293,443 (GRCm39)	missense	possibly damaging	0.64
R5126:Ints15	UTSW	5	143,293,701 (GRCm39)	missense	probably benign
R5176:Ints15	UTSW	5	143,300,830 (GRCm39)	nonsense	probably null
R6297:Ints15	UTSW	5	143,293,787 (GRCm39)	missense	possibly damaging	0.58
R6775:Ints15	UTSW	5	143,297,493 (GRCm39)	missense	probably benign	0.03
R7193:Ints15	UTSW	5	143,293,598 (GRCm39)	missense	probably benign	0.08
R7260:Ints15	UTSW	5	143,297,594 (GRCm39)	missense	probably benign
R7388:Ints15	UTSW	5	143,297,600 (GRCm39)	missense	probably benign	0.15
R8082:Ints15	UTSW	5	143,297,607 (GRCm39)	missense	probably benign	0.27
R8946:Ints15	UTSW	5	143,300,795 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- AAAGGCAGTATCTGTCCGAGACCC -3'
(R):5'- GCGTCAGACACGAAGGCTCTAAAC -3'

Sequencing Primer
(F):5'- TACAGCAAGTGCGAGTCTCTG -3'
(R):5'- CGAAGGCTCTAAACTCGGGG -3'

Posted On

2013-06-11