Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02974:Ints6l'

406301

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ints6l

Ensembl Gene

ENSMUSG00000035967

Gene Name

integrator complex subunit 6 like

Synonyms

Ddx26b, 6330505F04Rik, 4930535D10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

IGL02974

Quality Score

Status

Chromosome

Chromosomal Location

55500217-55553203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55552296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 845 (S845Y)

Ref Sequence

ENSEMBL: ENSMUSP00000139507 (fasta)

Gene Model

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

AlphaFold

Q8BND4

Predicted Effect

probably benign
Transcript: ENSMUST00000039374
AA Change: S845Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000035379
Gene: ENSMUSG00000035967
AA Change: S845Y

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: S845Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000138630
Gene: ENSMUSG00000035967
AA Change: S845Y

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

unknown
Transcript: ENSMUST00000142624
AA Change: S61Y

SMART Domains

Protein: ENSMUSP00000119095
Gene: ENSMUSG00000035967
AA Change: S61Y

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

Predicted Effect

unknown
Transcript: ENSMUST00000143142
AA Change: S621Y

SMART Domains

Protein: ENSMUSP00000118865
Gene: ENSMUSG00000035967
AA Change: S621Y

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: S845Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000139507
Gene: ENSMUSG00000035967
AA Change: S845Y

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	C	T	5: 48,545,479 (GRCm39)	T242M	probably damaging	Het
Abcg3	A	T	5: 105,116,129 (GRCm39)	I235N	probably damaging	Het
Agbl3	T	C	6: 34,776,757 (GRCm39)	L416S	probably damaging	Het
Alcam	T	C	16: 52,116,079 (GRCm39)	D165G	probably benign	Het
Aldh18a1	T	A	19: 40,557,528 (GRCm39)	I341F	probably damaging	Het
Amn	T	C	12: 111,237,575 (GRCm39)	V7A	probably benign	Het
Apc	C	T	18: 34,401,436 (GRCm39)		probably benign	Het
Arg2	T	C	12: 79,197,566 (GRCm39)	Y195H	probably damaging	Het
Bdp1	A	T	13: 100,191,800 (GRCm39)	M22K	probably benign	Het
Cacna1s	T	G	1: 136,020,355 (GRCm39)	N797K	possibly damaging	Het
Chd8	T	A	14: 52,439,158 (GRCm39)		probably null	Het
Clstn2	G	A	9: 97,414,760 (GRCm39)	T378M	probably damaging	Het
Elf2	A	G	3: 51,165,110 (GRCm39)	V298A	probably damaging	Het
Fbn1	C	T	2: 125,188,250 (GRCm39)	D1530N	probably null	Het
Fcrl2	A	T	3: 87,164,704 (GRCm39)	I274N	possibly damaging	Het
Fmo3	C	T	1: 162,810,619 (GRCm39)	E24K	probably damaging	Het
Fndc3b	A	T	3: 27,542,425 (GRCm39)	N408K	probably damaging	Het
Foxn2	A	T	17: 88,770,543 (GRCm39)	N130I	probably damaging	Het
Fscb	T	A	12: 64,518,299 (GRCm39)	I1056F	unknown	Het
Gimap5	A	C	6: 48,730,311 (GRCm39)	T294P	possibly damaging	Het
Gm20489	T	C	X: 100,307,320 (GRCm39)	Q11R	probably damaging	Het
Gpr3	T	C	4: 132,938,220 (GRCm39)	T151A	possibly damaging	Het
Gzmc	T	A	14: 56,471,451 (GRCm39)	H30L	probably damaging	Het
Iqcf3	A	T	9: 106,430,844 (GRCm39)	C101*	probably null	Het
Krt82	G	A	15: 101,459,020 (GRCm39)	Q7*	probably null	Het
L3mbtl1	A	T	2: 162,812,103 (GRCm39)	H716L	possibly damaging	Het
Lefty1	C	A	1: 180,762,842 (GRCm39)	H56Q	probably benign	Het
Lrp1	T	C	10: 127,390,885 (GRCm39)	Y3004C	probably damaging	Het
Lrp10	C	A	14: 54,705,341 (GRCm39)	S177*	probably null	Het
Naa15	A	G	3: 51,368,628 (GRCm39)	K576R	possibly damaging	Het
Naip2	A	G	13: 100,298,186 (GRCm39)	S617P	probably damaging	Het
Olfm1	T	G	2: 28,119,701 (GRCm39)	N445K	probably damaging	Het
Or4ac1-ps1	C	T	2: 88,370,579 (GRCm39)		silent	Het
Or5b24	T	G	19: 12,912,399 (GRCm39)	V99G	probably benign	Het
Ostm1	T	A	10: 42,559,158 (GRCm39)	N139K	probably damaging	Het
Ovol1	A	G	19: 5,601,177 (GRCm39)	Y205H	probably damaging	Het
Pappa	C	T	4: 65,123,172 (GRCm39)	L836F	probably damaging	Het
Pcdhb15	C	A	18: 37,608,067 (GRCm39)	T433N	probably damaging	Het
Ppfia2	A	G	10: 106,636,637 (GRCm39)	K229E	probably benign	Het
Ppm1b	T	A	17: 85,301,252 (GRCm39)	V44E	possibly damaging	Het
Rapgef1	T	C	2: 29,600,228 (GRCm39)	F611L	possibly damaging	Het
Rev3l	T	A	10: 39,738,743 (GRCm39)	Y2832*	probably null	Het
Robo1	T	A	16: 72,803,750 (GRCm39)	Y1099N	probably benign	Het
Sf3b1	T	C	1: 55,046,866 (GRCm39)	H226R	probably benign	Het
Slc26a4	C	T	12: 31,579,553 (GRCm39)	V570I	probably damaging	Het
Slc27a1	C	A	8: 72,036,847 (GRCm39)	A361D	probably damaging	Het
Srp68	T	C	11: 116,137,051 (GRCm39)	N549D	probably benign	Het
Terb1	G	T	8: 105,221,600 (GRCm39)	S202*	probably null	Het
Tmc1	T	A	19: 20,878,208 (GRCm39)	M96L	probably benign	Het
Tmprss11d	A	G	5: 86,454,235 (GRCm39)	V190A	probably damaging	Het
Ttll6	G	A	11: 96,047,528 (GRCm39)	C709Y	probably benign	Het
Uba1	A	G	X: 20,544,959 (GRCm39)	H712R	probably benign	Het
Unc80	A	C	1: 66,564,817 (GRCm39)	T835P	possibly damaging	Het
Vmn2r14	G	A	5: 109,369,292 (GRCm39)	P94S	possibly damaging	Het
Yes1	C	T	5: 32,818,112 (GRCm39)	A383V	probably damaging	Het

Other mutations in Ints6l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01619:Ints6l	APN	X	55,542,104 (GRCm39)	splice site	probably benign
IGL02552:Ints6l	APN	X	55,500,557 (GRCm39)	utr 5 prime	probably benign
IGL03224:Ints6l	APN	X	55,543,287 (GRCm39)	missense	probably damaging	1.00
R0308:Ints6l	UTSW	X	55,526,715 (GRCm39)	missense	possibly damaging	0.93
R0733:Ints6l	UTSW	X	55,550,172 (GRCm39)	missense	probably benign	0.01
R0733:Ints6l	UTSW	X	55,547,108 (GRCm39)	missense	probably benign	0.03
R2121:Ints6l	UTSW	X	55,550,228 (GRCm39)	missense	probably benign
R2124:Ints6l	UTSW	X	55,550,228 (GRCm39)	missense	probably benign
R2191:Ints6l	UTSW	X	55,550,110 (GRCm39)	missense	probably benign	0.03
R2192:Ints6l	UTSW	X	55,550,110 (GRCm39)	missense	probably benign	0.03
R2924:Ints6l	UTSW	X	55,550,196 (GRCm39)	missense	probably benign	0.01
R3775:Ints6l	UTSW	X	55,526,731 (GRCm39)	missense	probably damaging	1.00
Z1176:Ints6l	UTSW	X	55,543,295 (GRCm39)	missense	probably damaging	0.97

Posted On

2016-08-02