Incidental Mutation 'IGL03224:Ints6l'
| ID |
413730 |
| 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 # |
IGL03224
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
55500217-55553203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55543287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 525
(T525A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039374]
[ENSMUST00000101553]
[ENSMUST00000132428]
[ENSMUST00000186445]
|
| AlphaFold |
Q8BND4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039374
AA Change: T525A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035379
Gene: ENSMUSG00000035967
AA Change: T525A
| 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 damaging
Transcript: ENSMUST00000132428
AA Change: T525A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138630
Gene: ENSMUSG00000035967
AA Change: T525A
| 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: ENSMUST00000143142
AA Change: T301A
|
| SMART Domains |
Protein: ENSMUSP00000118865
Gene: ENSMUSG00000035967
AA Change: T301A
| 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 damaging
Transcript: ENSMUST00000186445
AA Change: T525A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139507
Gene: ENSMUSG00000035967
AA Change: T525A
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ash1l |
T |
C |
3: 88,942,575 (GRCm39) |
|
probably benign |
Het |
| Capn10 |
T |
G |
1: 92,867,046 (GRCm39) |
V92G |
probably damaging |
Het |
| Cntn2 |
A |
G |
1: 132,450,780 (GRCm39) |
C532R |
probably damaging |
Het |
| Csf1r |
T |
C |
18: 61,245,134 (GRCm39) |
F233L |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,349,547 (GRCm39) |
D82G |
probably damaging |
Het |
| Cym |
T |
C |
3: 107,126,048 (GRCm39) |
S72G |
possibly damaging |
Het |
| Cyp4a29 |
T |
A |
4: 115,104,247 (GRCm39) |
M105K |
probably damaging |
Het |
| Dhx35 |
T |
C |
2: 158,699,052 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
C |
A |
15: 28,459,300 (GRCm39) |
D4506E |
probably damaging |
Het |
| Dok5 |
T |
C |
2: 170,674,807 (GRCm39) |
F139L |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,076,235 (GRCm39) |
D2974G |
probably benign |
Het |
| Frem3 |
C |
T |
8: 81,340,092 (GRCm39) |
T795I |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,361,043 (GRCm39) |
T587A |
possibly damaging |
Het |
| Meikin |
A |
G |
11: 54,289,286 (GRCm39) |
M220V |
probably benign |
Het |
| Mmp12 |
T |
A |
9: 7,350,002 (GRCm39) |
|
probably benign |
Het |
| Mpp7 |
T |
C |
18: 7,403,269 (GRCm39) |
D347G |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,180,283 (GRCm39) |
Y1190C |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,185,525 (GRCm39) |
K963E |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,322,569 (GRCm39) |
D2614G |
probably damaging |
Het |
| Ppp1r3f |
A |
G |
X: 7,426,821 (GRCm39) |
V480A |
probably benign |
Het |
| Prkcb |
A |
T |
7: 122,116,147 (GRCm39) |
K209* |
probably null |
Het |
| Rasgef1a |
A |
G |
6: 118,066,767 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,784,681 (GRCm39) |
C233* |
probably null |
Het |
| Scn8a |
A |
G |
15: 100,933,520 (GRCm39) |
R1534G |
probably damaging |
Het |
| Slitrk3 |
A |
T |
3: 72,957,263 (GRCm39) |
L503H |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 99,918,156 (GRCm39) |
K380E |
possibly damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,848,840 (GRCm39) |
V1096A |
possibly damaging |
Het |
| Synrg |
C |
T |
11: 83,930,492 (GRCm39) |
T1278M |
possibly damaging |
Het |
| Teddm1a |
G |
T |
1: 153,767,763 (GRCm39) |
V76F |
possibly damaging |
Het |
| Troap |
A |
G |
15: 98,979,758 (GRCm39) |
T365A |
probably benign |
Het |
| Vps35l |
A |
G |
7: 118,391,776 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02974:Ints6l
|
APN |
X |
55,552,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
Incidental Mutation