Incidental Mutation 'IGL03018:Dnai7'
ID |
407972 |
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 # |
IGL03018
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
145120560-145156731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 145129031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 394
(F394S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060797]
[ENSMUST00000111728]
[ENSMUST00000204105]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060797
AA Change: F394S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062279 Gene: ENSMUSG00000043541 AA Change: F394S
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 damaging
Transcript: ENSMUST00000111728
AA Change: F381S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107357 Gene: ENSMUSG00000043541 AA Change: F381S
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: ENSMUST00000141307
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000204105
AA Change: F394S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144783 Gene: ENSMUSG00000043541 AA Change: F394S
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 |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
A |
5: 8,752,451 (GRCm39) |
V474E |
probably damaging |
Het |
Cpsf6 |
A |
T |
10: 117,203,861 (GRCm39) |
D30E |
probably benign |
Het |
Edem1 |
T |
C |
6: 108,806,103 (GRCm39) |
F135L |
probably damaging |
Het |
Elf3 |
C |
T |
1: 135,183,803 (GRCm39) |
E239K |
possibly damaging |
Het |
Farp1 |
C |
T |
14: 121,339,581 (GRCm39) |
A53V |
probably benign |
Het |
Gli3 |
T |
A |
13: 15,834,717 (GRCm39) |
L400Q |
probably damaging |
Het |
Gtf2i |
T |
A |
5: 134,318,189 (GRCm39) |
I109F |
possibly damaging |
Het |
Lat2 |
A |
T |
5: 134,631,445 (GRCm39) |
I191N |
probably damaging |
Het |
Mtf1 |
G |
A |
4: 124,732,456 (GRCm39) |
A505T |
probably benign |
Het |
Naa30 |
G |
T |
14: 49,410,697 (GRCm39) |
E208D |
probably benign |
Het |
Nlrp5 |
T |
C |
7: 23,117,172 (GRCm39) |
Y299H |
probably benign |
Het |
Npc1 |
T |
A |
18: 12,347,436 (GRCm39) |
N195Y |
probably damaging |
Het |
Or2f1 |
A |
G |
6: 42,721,748 (GRCm39) |
Y259C |
probably damaging |
Het |
Or4p21 |
T |
C |
2: 88,277,163 (GRCm39) |
N40D |
probably damaging |
Het |
Or5t16 |
T |
G |
2: 86,819,349 (GRCm39) |
Y57S |
probably damaging |
Het |
Or7g18 |
T |
C |
9: 18,787,523 (GRCm39) |
M300T |
probably benign |
Het |
Or7g19 |
A |
T |
9: 18,856,177 (GRCm39) |
I78F |
probably damaging |
Het |
Pate12 |
A |
G |
9: 36,344,723 (GRCm39) |
T84A |
possibly damaging |
Het |
Pcdh9 |
G |
A |
14: 93,253,012 (GRCm39) |
A1217V |
probably null |
Het |
Pdhb |
C |
T |
14: 8,171,537 (GRCm38) |
|
probably benign |
Het |
Pknox2 |
A |
G |
9: 36,865,993 (GRCm39) |
Y75H |
probably damaging |
Het |
Ptprn2 |
T |
C |
12: 117,175,563 (GRCm39) |
S748P |
probably damaging |
Het |
Ranbp6 |
A |
G |
19: 29,788,789 (GRCm39) |
V521A |
probably damaging |
Het |
Samd7 |
A |
G |
3: 30,816,294 (GRCm39) |
K347E |
probably damaging |
Het |
Selenom |
A |
G |
11: 3,466,508 (GRCm39) |
D63G |
probably damaging |
Het |
Sema6d |
T |
C |
2: 124,501,520 (GRCm39) |
V487A |
possibly damaging |
Het |
Tapt1 |
A |
T |
5: 44,361,666 (GRCm39) |
M109K |
probably damaging |
Het |
Trib1 |
T |
C |
15: 59,526,333 (GRCm39) |
F301S |
probably damaging |
Het |
Tspyl1 |
T |
C |
10: 34,159,112 (GRCm39) |
V279A |
probably damaging |
Het |
Ubr2 |
C |
T |
17: 47,264,972 (GRCm39) |
V1184I |
possibly damaging |
Het |
Urb1 |
T |
C |
16: 90,585,044 (GRCm39) |
I526V |
probably benign |
Het |
Vtcn1 |
A |
G |
3: 100,791,226 (GRCm39) |
D88G |
probably damaging |
Het |
Yod1 |
T |
G |
1: 130,646,695 (GRCm39) |
L191V |
probably benign |
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 |
IGL01066:Dnai7
|
APN |
6 |
145,121,948 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
|
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 |
2016-08-02 |