Mutagenetix > Incidental Mutation

Incidental Mutation 'R0614:Ints14'

54955

Institutional Source

Beutler Lab

Gene Symbol

Ints14

Ensembl Gene

ENSMUSG00000034263

Gene Name

integrator complex subunit 14

Synonyms

2010321M09Rik, Vwa9

MMRRC Submission

038803-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R0614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64868187-64894260 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64871715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 18 (S18P)

Ref Sequence

ENSEMBL: ENSMUSP00000127420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037504] [ENSMUST00000170517]

AlphaFold

Q8R3P6

Predicted Effect

probably benign
Transcript: ENSMUST00000037504
AA Change: S18P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049284
Gene: ENSMUSG00000034263
AA Change: S18P

Domain	Start	End	E-Value	Type
VWA	2	181	7.54e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170517
AA Change: S18P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127420
Gene: ENSMUSG00000034263
AA Change: S18P

Domain	Start	End	E-Value	Type
VWA	2	181	7.54e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215789

Meta Mutation Damage Score

0.0588

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.9%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,340,782 (GRCm39)	T137I	probably benign	Het
3110082I17Rik	C	T	5: 139,349,786 (GRCm39)	V88I	possibly damaging	Het
4930453N24Rik	T	A	16: 64,586,977 (GRCm39)	Q249L	probably damaging	Het
Ap1g2	C	T	14: 55,337,230 (GRCm39)	V702I	probably benign	Het
Armcx5	G	A	X: 134,647,564 (GRCm39)	E547K	probably damaging	Het
Asah2	C	A	19: 31,994,128 (GRCm39)	V406L	probably damaging	Het
Atp8b1	T	C	18: 64,666,658 (GRCm39)		probably benign	Het
Axl	C	A	7: 25,473,588 (GRCm39)	R346L	probably benign	Het
Baz1a	G	A	12: 54,988,304 (GRCm39)	R282*	probably null	Het
Card14	A	G	11: 119,213,653 (GRCm39)	N200S	probably benign	Het
Cdt1	A	G	8: 123,294,876 (GRCm39)	T28A	probably benign	Het
Cep250	C	T	2: 155,812,017 (GRCm39)	Q438*	probably null	Het
Dapk1	C	A	13: 60,865,946 (GRCm39)	P181Q	probably damaging	Het
Dnah17	C	T	11: 117,961,394 (GRCm39)		probably benign	Het
Dph7	T	C	2: 24,858,968 (GRCm39)		probably null	Het
Edc4	A	T	8: 106,616,028 (GRCm39)	D801V	possibly damaging	Het
Eif4g2	A	G	7: 110,676,430 (GRCm39)		probably null	Het
Eml2	T	C	7: 18,936,516 (GRCm39)	L531P	probably damaging	Het
Ephb2	T	C	4: 136,400,676 (GRCm39)	Y533C	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fsip2	A	G	2: 82,807,877 (GRCm39)	K1399E	probably benign	Het
Hcls1	A	G	16: 36,782,987 (GRCm39)	D446G	probably damaging	Het
Hif1a	T	A	12: 73,992,405 (GRCm39)	N787K	probably damaging	Het
Kalrn	A	T	16: 33,814,040 (GRCm39)		probably benign	Het
Llgl2	T	A	11: 115,741,093 (GRCm39)	D502E	probably damaging	Het
Lrwd1	A	G	5: 136,152,354 (GRCm39)	V570A	probably damaging	Het
Mga	C	G	2: 119,794,947 (GRCm39)	P2877R	probably damaging	Het
Mvd	T	C	8: 123,163,292 (GRCm39)	I313V	probably benign	Het
Myo15b	C	A	11: 115,773,739 (GRCm39)	P270T	probably damaging	Het
Naip1	C	A	13: 100,580,708 (GRCm39)	V180L	probably benign	Het
Ofd1	T	C	X: 165,218,536 (GRCm39)		probably benign	Het
Or1j19	T	A	2: 36,676,705 (GRCm39)	L56H	probably damaging	Het
Or4c125	T	A	2: 89,170,329 (GRCm39)	I106F	probably damaging	Het
Or4d11	A	T	19: 12,013,929 (GRCm39)	M59K	possibly damaging	Het
Otogl	G	A	10: 107,634,216 (GRCm39)	P1420S	probably benign	Het
Pakap	C	A	4: 57,856,720 (GRCm39)	A926E	probably benign	Het
Pcnt	C	T	10: 76,256,150 (GRCm39)	V697M	probably damaging	Het
Plekha7	A	T	7: 115,753,880 (GRCm39)	Y702*	probably null	Het
Plxnb3	A	G	X: 72,807,964 (GRCm39)		probably benign	Het
Ptgis	A	G	2: 167,048,802 (GRCm39)	F405L	probably damaging	Het
Ptprk	C	T	10: 27,951,132 (GRCm39)	P19L	probably damaging	Het
Ptprt	A	G	2: 161,654,040 (GRCm39)	V530A	possibly damaging	Het
Rasgrp4	A	T	7: 28,845,276 (GRCm39)	Y299F	probably damaging	Het
Slc39a11	T	A	11: 113,414,452 (GRCm39)		probably null	Het
Slc6a15	T	A	10: 103,240,213 (GRCm39)	L312*	probably null	Het
Slf1	T	A	13: 77,197,233 (GRCm39)	M794L	probably benign	Het
Sntg2	G	A	12: 30,307,977 (GRCm39)	T236I	possibly damaging	Het
Stau1	T	C	2: 166,792,726 (GRCm39)	Y413C	probably damaging	Het
Syne2	T	G	12: 75,959,127 (GRCm39)		probably null	Het
Tas2r104	A	T	6: 131,662,165 (GRCm39)	N181K	probably damaging	Het
Tmem81	G	A	1: 132,435,469 (GRCm39)	V92I	probably benign	Het
Trap1	A	G	16: 3,878,615 (GRCm39)		probably benign	Het
Trip12	T	C	1: 84,735,482 (GRCm39)	E905G	probably damaging	Het
Usp2	C	T	9: 44,003,789 (GRCm39)	R494*	probably null	Het
Vps13a	G	T	19: 16,630,058 (GRCm39)	R2692S	probably damaging	Het
Zfhx3	T	C	8: 109,675,171 (GRCm39)	S2074P	probably benign	Het
Zfhx3	C	G	8: 109,675,599 (GRCm39)	Y2216*	probably null	Het
Zfp423	A	G	8: 88,508,742 (GRCm39)	F409S	probably damaging	Het
Zfp472	G	A	17: 33,196,908 (GRCm39)	E328K	possibly damaging	Het
Zfp619	T	A	7: 39,187,099 (GRCm39)	M1043K	possibly damaging	Het
Zfp940	T	C	7: 29,545,671 (GRCm39)	I79V	probably benign	Het

Other mutations in Ints14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Ints14	APN	9	64,880,074 (GRCm39)	missense	probably benign	0.30
R0376:Ints14	UTSW	9	64,891,272 (GRCm39)	missense	probably damaging	0.98
R0589:Ints14	UTSW	9	64,887,113 (GRCm39)	missense	probably damaging	1.00
R0708:Ints14	UTSW	9	64,891,266 (GRCm39)	missense	probably benign	0.29
R1192:Ints14	UTSW	9	64,874,045 (GRCm39)	missense	possibly damaging	0.86
R2114:Ints14	UTSW	9	64,887,077 (GRCm39)	missense	probably damaging	1.00
R2115:Ints14	UTSW	9	64,887,077 (GRCm39)	missense	probably damaging	1.00
R2117:Ints14	UTSW	9	64,887,077 (GRCm39)	missense	probably damaging	1.00
R2484:Ints14	UTSW	9	64,893,366 (GRCm39)	missense	probably benign
R4811:Ints14	UTSW	9	64,871,800 (GRCm39)	missense	probably damaging	1.00
R4953:Ints14	UTSW	9	64,889,340 (GRCm39)	missense	probably damaging	1.00
R5067:Ints14	UTSW	9	64,871,694 (GRCm39)	missense	probably damaging	1.00
R6080:Ints14	UTSW	9	64,874,044 (GRCm39)	missense	probably benign	0.02
R6326:Ints14	UTSW	9	64,871,719 (GRCm39)	missense	probably benign	0.08
R6395:Ints14	UTSW	9	64,885,406 (GRCm39)	splice site	probably null
R7036:Ints14	UTSW	9	64,871,827 (GRCm39)	missense	probably benign
R7147:Ints14	UTSW	9	64,891,267 (GRCm39)	missense	possibly damaging	0.93
R7203:Ints14	UTSW	9	64,871,701 (GRCm39)	missense	probably damaging	1.00
R8171:Ints14	UTSW	9	64,880,532 (GRCm39)	missense	possibly damaging	0.90
R9390:Ints14	UTSW	9	64,891,314 (GRCm39)	missense	probably benign	0.08
R9561:Ints14	UTSW	9	64,882,932 (GRCm39)	missense	probably damaging	1.00
R9700:Ints14	UTSW	9	64,880,007 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGTGCTCACCACCACATAGTTCTG -3'
(R):5'- TCTCTCGTAAAGGGGACCATCAGC -3'

Sequencing Primer
(F):5'- gttcaaatcccagcaaccac -3'
(R):5'- TCAGCTCCCACAGTGACG -3'

Posted On

2013-07-11