Incidental Mutation 'IGL01066:Dnai7'
ID |
51243 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dnai7
|
Ensembl Gene |
ENSMUSG00000043541 |
Gene Name |
dynein axonemal intermediate chain 7 |
Synonyms |
Las1, A230084G12Rik, Casc1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
IGL01066
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
145120560-145156731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 145121948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 624
(G624S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032396]
[ENSMUST00000060797]
[ENSMUST00000111728]
[ENSMUST00000204105]
[ENSMUST00000135984]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032396
|
SMART Domains |
Protein: ENSMUSP00000032396 Gene: ENSMUSG00000030263
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
10 |
539 |
3.2e-265 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060797
AA Change: G624S
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000062279 Gene: ENSMUSG00000043541 AA Change: G624S
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
Pfam:Casc1_N
|
29 |
229 |
5.5e-61 |
PFAM |
Pfam:Casc1
|
241 |
469 |
3.4e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111727
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111728
|
SMART Domains |
Protein: ENSMUSP00000107357 Gene: ENSMUSG00000043541
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
45 |
N/A |
INTRINSIC |
Pfam:Casc1
|
228 |
456 |
6.1e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132937
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132948
|
SMART Domains |
Protein: ENSMUSP00000120248 Gene: ENSMUSG00000030263
Domain | Start | End | E-Value | Type |
Pfam:MRVI1
|
8 |
504 |
3.7e-248 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000204105
AA Change: G624S
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144783 Gene: ENSMUSG00000043541 AA Change: G624S
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
Pfam:Casc1_N
|
29 |
229 |
3.4e-57 |
PFAM |
Pfam:Casc1
|
241 |
469 |
2.3e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135191
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135984
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice with disruptions of this gene display a higher incidence of lung tumors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
2300003K06Rik |
T |
A |
11: 99,728,454 (GRCm39) |
R130* |
probably null |
Het |
Abca12 |
T |
A |
1: 71,392,889 (GRCm39) |
R117W |
possibly damaging |
Het |
Agrn |
A |
G |
4: 156,261,800 (GRCm39) |
S497P |
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,473,874 (GRCm39) |
S710T |
probably benign |
Het |
Anapc4 |
T |
A |
5: 53,014,551 (GRCm39) |
N471K |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,491,790 (GRCm39) |
M879K |
probably null |
Het |
Apoe |
A |
G |
7: 19,430,525 (GRCm39) |
L239P |
probably damaging |
Het |
Ash1l |
T |
C |
3: 88,891,942 (GRCm39) |
Y1274H |
probably damaging |
Het |
B3glct |
C |
T |
5: 149,632,890 (GRCm39) |
T80I |
possibly damaging |
Het |
Ccdc146 |
T |
C |
5: 21,524,540 (GRCm39) |
T271A |
probably benign |
Het |
Chd8 |
T |
A |
14: 52,455,223 (GRCm39) |
N1088I |
probably damaging |
Het |
Csnk1g2 |
T |
C |
10: 80,470,481 (GRCm39) |
|
probably benign |
Het |
Daxx |
T |
A |
17: 34,132,867 (GRCm39) |
V627D |
probably benign |
Het |
Dpy19l3 |
A |
G |
7: 35,392,192 (GRCm39) |
|
probably benign |
Het |
Enc1 |
A |
G |
13: 97,381,822 (GRCm39) |
I111V |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,816,065 (GRCm39) |
|
probably benign |
Het |
Fig4 |
T |
C |
10: 41,161,413 (GRCm39) |
|
probably benign |
Het |
Fkbp7 |
A |
T |
2: 76,503,252 (GRCm39) |
L36* |
probably null |
Het |
Fxn |
A |
T |
19: 24,244,662 (GRCm39) |
|
probably benign |
Het |
Gm10152 |
C |
T |
7: 144,316,993 (GRCm39) |
P16L |
unknown |
Het |
Hivep2 |
T |
C |
10: 14,024,768 (GRCm39) |
V2194A |
possibly damaging |
Het |
Hook3 |
T |
G |
8: 26,538,326 (GRCm39) |
E525A |
probably damaging |
Het |
Icam1 |
A |
G |
9: 20,927,401 (GRCm39) |
|
probably null |
Het |
Ifngr1 |
C |
T |
10: 19,484,946 (GRCm39) |
T315I |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,235,203 (GRCm39) |
|
probably null |
Het |
Irag2 |
T |
C |
6: 145,106,681 (GRCm39) |
S222P |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,336,266 (GRCm39) |
|
probably null |
Het |
Lama1 |
T |
A |
17: 68,050,321 (GRCm39) |
C311S |
probably damaging |
Het |
Lig3 |
T |
A |
11: 82,688,141 (GRCm39) |
M714K |
possibly damaging |
Het |
Lypd5 |
C |
T |
7: 24,052,910 (GRCm39) |
T189I |
probably benign |
Het |
Mapk8ip3 |
C |
T |
17: 25,120,692 (GRCm39) |
G807D |
probably benign |
Het |
Met |
T |
C |
6: 17,535,104 (GRCm39) |
|
probably null |
Het |
Nlrp4g |
C |
A |
9: 124,349,526 (GRCm38) |
|
noncoding transcript |
Het |
Nlrp6 |
T |
A |
7: 140,501,709 (GRCm39) |
V62D |
possibly damaging |
Het |
Nme7 |
A |
G |
1: 164,172,999 (GRCm39) |
|
probably null |
Het |
Or2y1f |
T |
C |
11: 49,184,457 (GRCm39) |
I103T |
possibly damaging |
Het |
Or5m9 |
A |
G |
2: 85,877,602 (GRCm39) |
R259G |
probably damaging |
Het |
Or5p79 |
T |
C |
7: 108,221,064 (GRCm39) |
F15S |
probably damaging |
Het |
Pcnx1 |
G |
A |
12: 82,038,795 (GRCm39) |
R2020Q |
possibly damaging |
Het |
Pdzd2 |
T |
A |
15: 12,402,718 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,166,637 (GRCm39) |
|
probably benign |
Het |
Pkdrej |
T |
G |
15: 85,700,360 (GRCm39) |
I1859L |
probably benign |
Het |
Plcg1 |
A |
T |
2: 160,596,318 (GRCm39) |
H638L |
probably damaging |
Het |
Polr1b |
C |
T |
2: 128,961,072 (GRCm39) |
S677L |
probably damaging |
Het |
Ppef2 |
A |
G |
5: 92,382,096 (GRCm39) |
L533P |
probably damaging |
Het |
Sh3rf1 |
T |
A |
8: 61,782,370 (GRCm39) |
W171R |
probably damaging |
Het |
Son |
T |
C |
16: 91,457,024 (GRCm39) |
|
probably benign |
Het |
Sycp1 |
A |
G |
3: 102,827,950 (GRCm39) |
S266P |
probably damaging |
Het |
Tedc1 |
A |
G |
12: 113,126,770 (GRCm39) |
E344G |
probably damaging |
Het |
Tkfc |
T |
C |
19: 10,571,892 (GRCm39) |
I381M |
probably benign |
Het |
Tmprss6 |
T |
C |
15: 78,326,634 (GRCm39) |
D1G |
probably null |
Het |
Ttn |
T |
C |
2: 76,582,770 (GRCm39) |
T22708A |
probably damaging |
Het |
Ubtf |
T |
C |
11: 102,199,710 (GRCm39) |
|
probably benign |
Het |
Vps35l |
T |
A |
7: 118,372,234 (GRCm39) |
|
probably null |
Het |
Vwc2l |
T |
C |
1: 70,768,070 (GRCm39) |
F45L |
probably damaging |
Het |
Xpo7 |
T |
C |
14: 70,939,195 (GRCm39) |
T154A |
probably benign |
Het |
Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
|
Other mutations in Dnai7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00160:Dnai7
|
APN |
6 |
145,121,016 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00586:Dnai7
|
APN |
6 |
145,137,302 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01413:Dnai7
|
APN |
6 |
145,120,812 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02275:Dnai7
|
APN |
6 |
145,123,090 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02668:Dnai7
|
APN |
6 |
145,150,983 (GRCm39) |
missense |
unknown |
|
IGL03018:Dnai7
|
APN |
6 |
145,129,031 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03233:Dnai7
|
APN |
6 |
145,127,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R0011:Dnai7
|
UTSW |
6 |
145,124,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R0011:Dnai7
|
UTSW |
6 |
145,124,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R0180:Dnai7
|
UTSW |
6 |
145,128,944 (GRCm39) |
critical splice donor site |
probably benign |
|
R0786:Dnai7
|
UTSW |
6 |
145,127,483 (GRCm39) |
critical splice donor site |
probably null |
|
R1916:Dnai7
|
UTSW |
6 |
145,121,926 (GRCm39) |
missense |
probably benign |
0.37 |
R2117:Dnai7
|
UTSW |
6 |
145,150,967 (GRCm39) |
critical splice donor site |
probably null |
|
R2174:Dnai7
|
UTSW |
6 |
145,120,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R2264:Dnai7
|
UTSW |
6 |
145,154,155 (GRCm39) |
utr 5 prime |
probably benign |
|
R4393:Dnai7
|
UTSW |
6 |
145,140,304 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4467:Dnai7
|
UTSW |
6 |
145,128,944 (GRCm39) |
critical splice donor site |
probably null |
|
R4847:Dnai7
|
UTSW |
6 |
145,120,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R5014:Dnai7
|
UTSW |
6 |
145,128,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R5207:Dnai7
|
UTSW |
6 |
145,124,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R5264:Dnai7
|
UTSW |
6 |
145,127,502 (GRCm39) |
missense |
probably benign |
0.02 |
R5359:Dnai7
|
UTSW |
6 |
145,142,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R5499:Dnai7
|
UTSW |
6 |
145,123,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R6211:Dnai7
|
UTSW |
6 |
145,146,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R6579:Dnai7
|
UTSW |
6 |
145,124,744 (GRCm39) |
missense |
probably benign |
0.19 |
R6939:Dnai7
|
UTSW |
6 |
145,120,945 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7108:Dnai7
|
UTSW |
6 |
145,131,591 (GRCm39) |
nonsense |
probably null |
|
R7131:Dnai7
|
UTSW |
6 |
145,123,132 (GRCm39) |
missense |
probably null |
0.97 |
R7810:Dnai7
|
UTSW |
6 |
145,140,312 (GRCm39) |
missense |
probably benign |
0.28 |
R8017:Dnai7
|
UTSW |
6 |
145,140,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R8385:Dnai7
|
UTSW |
6 |
145,120,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R8680:Dnai7
|
UTSW |
6 |
145,127,542 (GRCm39) |
missense |
probably benign |
0.13 |
R8720:Dnai7
|
UTSW |
6 |
145,150,983 (GRCm39) |
missense |
unknown |
|
R9118:Dnai7
|
UTSW |
6 |
145,120,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R9118:Dnai7
|
UTSW |
6 |
145,120,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R9172:Dnai7
|
UTSW |
6 |
145,123,175 (GRCm39) |
missense |
probably benign |
|
R9290:Dnai7
|
UTSW |
6 |
145,148,688 (GRCm39) |
missense |
unknown |
|
X0063:Dnai7
|
UTSW |
6 |
145,120,997 (GRCm39) |
missense |
probably benign |
0.13 |
Z1176:Dnai7
|
UTSW |
6 |
145,151,019 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-06-21 |