Mutagenetix > Incidental Mutations

Incidental Mutation 'R2924:Ints6l'

255684

Institutional Source

Beutler Lab

Gene Symbol

Ints6l

Ensembl Gene

ENSMUSG00000035967

Gene Name

integrator complex subunit 6 like

Synonyms

6330505F04Rik, 4930535D10Rik, Ddx26b

MMRRC Submission

040509-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R2924 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

56454857-56507843 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56504836 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 483 (E483G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039374] [ENSMUST00000132428] [ENSMUST00000186445]

Predicted Effect

probably benign
Transcript: ENSMUST00000039374
AA Change: E707G

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

SMART Domains

Protein: ENSMUSP00000035379
Gene: ENSMUSG00000035967
AA Change: E707G

Domain	Start	End	E-Value	Type
VWA	1	275	1.29e-1	SMART
Blast:VWA	311	335	1e-6	BLAST
low complexity region	617	633	N/A	INTRINSIC
Pfam:INT_SG_DDX_CT_C	776	838	3.8e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132428
AA Change: E707G

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

SMART Domains

Protein: ENSMUSP00000138630
Gene: ENSMUSG00000035967
AA Change: E707G

Domain	Start	End	E-Value	Type
VWA	1	275	1.29e-1	SMART
Blast:VWA	311	335	1e-6	BLAST
low complexity region	617	633	N/A	INTRINSIC
Pfam:INT_SG_DDX_CT_C	775	839	2.1e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134138

Predicted Effect

probably benign
Transcript: ENSMUST00000142624

SMART Domains

Protein: ENSMUSP00000119095
Gene: ENSMUSG00000035967

Domain	Start	End	E-Value	Type
Pfam:INT_SG_DDX_CT_C	1	55	2.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143142
AA Change: E483G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000118865
Gene: ENSMUSG00000035967
AA Change: E483G

Domain	Start	End	E-Value	Type
Blast:VWA	2	223	1e-148	BLAST
low complexity region	394	410	N/A	INTRINSIC
Pfam:INT_SG_DDX_CT_C	553	615	1.1e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186445
AA Change: E707G

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

SMART Domains

Protein: ENSMUSP00000139507
Gene: ENSMUSG00000035967
AA Change: E707G

Domain	Start	End	E-Value	Type
VWA	1	275	1.29e-1	SMART
Blast:VWA	311	335	1e-6	BLAST
low complexity region	617	633	N/A	INTRINSIC
Pfam:INT_SG_DDX_CT_C	775	839	2.1e-34	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9	A	G	3: 97,209,753	S542P	probably benign	Het
Cass4	A	G	2: 172,426,672	R225G	possibly damaging	Het
Ddx50	A	T	10: 62,627,594	V440E	probably damaging	Het
Dmrtc2	G	A	7: 24,872,516	C12Y	probably damaging	Het
Dock6	A	T	9: 21,809,630	I1693N	probably damaging	Het
Fuom	T	C	7: 140,099,949	T110A	probably benign	Het
Gli2	C	T	1: 118,836,359	R1354H	probably benign	Het
Gm5478	A	T	15: 101,643,794		probably null	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Il2rb	T	C	15: 78,491,849	M1V	probably null	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Man2b2	A	G	5: 36,824,102	F224L	probably benign	Het
Mrgpra1	G	A	7: 47,334,870		probably null	Het
Mtbp	G	A	15: 55,619,814	R429Q	probably benign	Het
Ncapg2	C	A	12: 116,438,729	T727K	probably benign	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Nup214	A	G	2: 31,998,003	K15E	probably damaging	Het
Olfr394	A	G	11: 73,887,511	I287T	probably damaging	Het
Oxr1	T	C	15: 41,825,957	Y526H	probably benign	Het
Plec	A	G	15: 76,178,252	F2563S	probably damaging	Het
Prex2	A	G	1: 11,098,487	T236A	probably damaging	Het
Rbbp5	G	C	1: 132,492,663		probably null	Het
Slc24a2	A	G	4: 87,011,724	S512P	probably benign	Het
Srd5a1	A	G	13: 69,586,715	S191P	probably damaging	Het
Syt3	T	A	7: 44,395,798	V518E	probably damaging	Het
Tmem132e	T	C	11: 82,444,323	S652P	probably damaging	Het
Uba6	A	T	5: 86,159,271	V102D	probably damaging	Het
Unc13a	A	G	8: 71,644,952	V1158A	possibly damaging	Het
Upk3a	A	G	15: 85,018,149	Y59C	probably benign	Het
Zc3hav1	T	C	6: 38,354,110	Y38C	probably damaging	Het
Zfp119a	C	A	17: 55,868,343	D51Y	possibly damaging	Het

Other mutations in Ints6l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01619:Ints6l	APN	X	56496744	splice site	probably benign
IGL02552:Ints6l	APN	X	56455197	utr 5 prime	probably benign
IGL02974:Ints6l	APN	X	56506936	missense	probably benign	0.00
IGL03224:Ints6l	APN	X	56497927	missense	probably damaging	1.00
R0308:Ints6l	UTSW	X	56481355	missense	possibly damaging	0.93
R0733:Ints6l	UTSW	X	56501748	missense	probably benign	0.03
R0733:Ints6l	UTSW	X	56504812	missense	probably benign	0.01
R2121:Ints6l	UTSW	X	56504868	missense	probably benign
R2124:Ints6l	UTSW	X	56504868	missense	probably benign
R2191:Ints6l	UTSW	X	56504750	missense	probably benign	0.03
R2192:Ints6l	UTSW	X	56504750	missense	probably benign	0.03
R3775:Ints6l	UTSW	X	56481371	missense	probably damaging	1.00
Z1176:Ints6l	UTSW	X	56497935	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGTAGCTGGAAGGTCACAAGTC -3'
(R):5'- TTGGCACCGTTTCCAAAGC -3'

Sequencing Primer
(F):5'- GTTCAGAACATGTCTCACAGGATGC -3'
(R):5'- CGTTTCCAAAGCAGATGCCATTG -3'

Posted On

2014-12-29