Incidental Mutation 'R2924:Ints6l'
| ID |
255684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ints6l
|
| Ensembl Gene |
ENSMUSG00000035967 |
| Gene Name |
integrator complex subunit 6 like |
| Synonyms |
Ddx26b, 6330505F04Rik, 4930535D10Rik |
| MMRRC Submission |
040509-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R2924 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
55500217-55553203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55550196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 483
(E483G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039374]
[ENSMUST00000132428]
[ENSMUST00000186445]
|
| AlphaFold |
Q8BND4 |
| 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: 97,117,069 (GRCm39) |
S542P |
probably benign |
Het |
| Cass4 |
A |
G |
2: 172,268,592 (GRCm39) |
R225G |
possibly damaging |
Het |
| Ddx50 |
A |
T |
10: 62,463,373 (GRCm39) |
V440E |
probably damaging |
Het |
| Dmrtc2 |
G |
A |
7: 24,571,941 (GRCm39) |
C12Y |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,720,926 (GRCm39) |
I1693N |
probably damaging |
Het |
| Fuom |
T |
C |
7: 139,679,862 (GRCm39) |
T110A |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,764,089 (GRCm39) |
R1354H |
probably benign |
Het |
| Gm5478 |
A |
T |
15: 101,552,229 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Il2rb |
T |
C |
15: 78,376,049 (GRCm39) |
M1V |
probably null |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,981,446 (GRCm39) |
F224L |
probably benign |
Het |
| Mrgpra1 |
G |
A |
7: 46,984,618 (GRCm39) |
|
probably null |
Het |
| Mtbp |
G |
A |
15: 55,483,210 (GRCm39) |
R429Q |
probably benign |
Het |
| Ncapg2 |
C |
A |
12: 116,402,349 (GRCm39) |
T727K |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup214 |
A |
G |
2: 31,888,015 (GRCm39) |
K15E |
probably damaging |
Het |
| Or1e34 |
A |
G |
11: 73,778,337 (GRCm39) |
I287T |
probably damaging |
Het |
| Oxr1 |
T |
C |
15: 41,689,353 (GRCm39) |
Y526H |
probably benign |
Het |
| Plec |
A |
G |
15: 76,062,452 (GRCm39) |
F2563S |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,168,711 (GRCm39) |
T236A |
probably damaging |
Het |
| Rbbp5 |
G |
C |
1: 132,420,401 (GRCm39) |
|
probably null |
Het |
| Slc24a2 |
A |
G |
4: 86,929,961 (GRCm39) |
S512P |
probably benign |
Het |
| Srd5a1 |
A |
G |
13: 69,734,834 (GRCm39) |
S191P |
probably damaging |
Het |
| Syt3 |
T |
A |
7: 44,045,222 (GRCm39) |
V518E |
probably damaging |
Het |
| Tmem132e |
T |
C |
11: 82,335,149 (GRCm39) |
S652P |
probably damaging |
Het |
| Uba6 |
A |
T |
5: 86,307,130 (GRCm39) |
V102D |
probably damaging |
Het |
| Unc13a |
A |
G |
8: 72,097,596 (GRCm39) |
V1158A |
possibly damaging |
Het |
| Upk3a |
A |
G |
15: 84,902,350 (GRCm39) |
Y59C |
probably benign |
Het |
| Zc3hav1 |
T |
C |
6: 38,331,045 (GRCm39) |
Y38C |
probably damaging |
Het |
| Zfp119a |
C |
A |
17: 56,175,343 (GRCm39) |
D51Y |
possibly 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 |
|
|
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 |
|
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 |
|
| 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 |
Incidental Mutation