Incidental Mutation 'IGL01619:Ints6l'
ID |
92543 |
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)
|
Stock # |
IGL01619
|
Quality Score |
|
Status
|
|
Chromosome |
X |
Chromosomal Location |
55500217-55553203 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 55542104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039374]
[ENSMUST00000101553]
[ENSMUST00000132428]
[ENSMUST00000186445]
|
AlphaFold |
Q8BND4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039374
|
SMART Domains |
Protein: ENSMUSP00000035379 Gene: ENSMUSG00000035967
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: ENSMUST00000101553
|
SMART Domains |
Protein: ENSMUSP00000099089 Gene: ENSMUSG00000035967
Domain | Start | End | E-Value | Type |
VWA
|
1 |
275 |
1.29e-1 |
SMART |
Blast:VWA
|
298 |
335 |
7e-7 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132428
|
SMART Domains |
Protein: ENSMUSP00000138630 Gene: ENSMUSG00000035967
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: ENSMUST00000143142
|
SMART Domains |
Protein: ENSMUSP00000118865 Gene: ENSMUSG00000035967
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
|
SMART Domains |
Protein: ENSMUSP00000139507 Gene: ENSMUSG00000035967
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd46 |
T |
C |
15: 36,486,113 (GRCm39) |
T47A |
possibly damaging |
Het |
Asxl3 |
T |
G |
18: 22,656,385 (GRCm39) |
V1465G |
probably damaging |
Het |
Celsr3 |
A |
T |
9: 108,711,756 (GRCm39) |
D1657V |
probably damaging |
Het |
Celsr3 |
A |
G |
9: 108,714,603 (GRCm39) |
H1995R |
probably benign |
Het |
Cimip2b |
G |
A |
4: 43,427,814 (GRCm39) |
T170I |
possibly damaging |
Het |
Cntn6 |
G |
A |
6: 104,705,335 (GRCm39) |
|
probably benign |
Het |
Def6 |
C |
T |
17: 28,426,838 (GRCm39) |
L8F |
probably damaging |
Het |
Dnah9 |
T |
A |
11: 65,722,441 (GRCm39) |
K1940* |
probably null |
Het |
Dock10 |
A |
G |
1: 80,612,015 (GRCm39) |
|
probably benign |
Het |
Fam72a |
A |
G |
1: 131,461,650 (GRCm39) |
I112V |
probably benign |
Het |
Fgl1 |
A |
T |
8: 41,650,008 (GRCm39) |
W258R |
probably damaging |
Het |
Lifr |
A |
T |
15: 7,220,643 (GRCm39) |
N1091I |
probably damaging |
Het |
Mga |
T |
C |
2: 119,762,309 (GRCm39) |
I1100T |
possibly damaging |
Het |
Mrpl40 |
T |
A |
16: 18,691,294 (GRCm39) |
M139L |
probably benign |
Het |
Myom1 |
T |
C |
17: 71,351,471 (GRCm39) |
|
probably benign |
Het |
Or2m12 |
T |
A |
16: 19,104,909 (GRCm39) |
T195S |
probably damaging |
Het |
Pcdhb5 |
T |
C |
18: 37,455,992 (GRCm39) |
F791L |
probably damaging |
Het |
Prss29 |
T |
C |
17: 25,540,113 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
A |
G |
10: 58,299,900 (GRCm39) |
|
probably null |
Het |
Serpinb9e |
A |
G |
13: 33,439,108 (GRCm39) |
K178R |
probably damaging |
Het |
Shtn1 |
A |
G |
19: 59,016,601 (GRCm39) |
S233P |
probably damaging |
Het |
Smpd1 |
G |
A |
7: 105,204,549 (GRCm39) |
V143M |
possibly damaging |
Het |
Terb1 |
G |
A |
8: 105,199,646 (GRCm39) |
H433Y |
probably benign |
Het |
Traf6 |
C |
T |
2: 101,520,443 (GRCm39) |
Q164* |
probably null |
Het |
Trip12 |
C |
A |
1: 84,792,631 (GRCm39) |
R4L |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,693,879 (GRCm39) |
P208S |
possibly damaging |
Het |
Ube2c |
T |
C |
2: 164,613,232 (GRCm39) |
I50T |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,200,775 (GRCm39) |
D1174G |
probably damaging |
Het |
Vmn2r121 |
T |
G |
X: 123,041,997 (GRCm39) |
M387L |
probably benign |
Het |
Vmn2r18 |
T |
A |
5: 151,510,229 (GRCm39) |
N48I |
probably benign |
Het |
Zc3h15 |
T |
C |
2: 83,490,517 (GRCm39) |
L217P |
probably damaging |
Het |
Zyg11a |
T |
A |
4: 108,062,414 (GRCm39) |
E129V |
probably damaging |
Het |
|
Other mutations in Ints6l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02552:Ints6l
|
APN |
X |
55,500,557 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02974:Ints6l
|
APN |
X |
55,552,296 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2013-12-09 |