Incidental Mutation 'IGL02668:Dnai7'
ID |
302796 |
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 # |
IGL02668
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
145120560-145156731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 145150983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 30
(R30S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060797]
[ENSMUST00000111728]
[ENSMUST00000204105]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000060797
AA Change: R30S
|
SMART Domains |
Protein: ENSMUSP00000062279 Gene: ENSMUSG00000043541 AA Change: R30S
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 |
unknown
Transcript: ENSMUST00000111728
AA Change: R17S
|
SMART Domains |
Protein: ENSMUSP00000107357 Gene: ENSMUSG00000043541 AA Change: R17S
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: ENSMUST00000128070
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133671
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152138
|
Predicted Effect |
unknown
Transcript: ENSMUST00000204105
AA Change: R30S
|
SMART Domains |
Protein: ENSMUSP00000144783 Gene: ENSMUSG00000043541 AA Change: R30S
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: ENSMUST00000203558
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205162
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930596D02Rik |
A |
G |
14: 35,532,074 (GRCm39) |
M167T |
probably benign |
Het |
Abcc4 |
G |
T |
14: 118,848,887 (GRCm39) |
S488R |
probably damaging |
Het |
Adprm |
G |
T |
11: 66,931,073 (GRCm39) |
D230E |
possibly damaging |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Bltp3a |
A |
C |
17: 28,105,549 (GRCm39) |
I692L |
possibly damaging |
Het |
Ccdc66 |
T |
C |
14: 27,219,298 (GRCm39) |
K309E |
possibly damaging |
Het |
Cyb561d2 |
C |
T |
9: 107,417,371 (GRCm39) |
A127T |
probably benign |
Het |
Dctn1 |
T |
A |
6: 83,168,030 (GRCm39) |
M357K |
possibly damaging |
Het |
Diras2 |
T |
C |
13: 52,661,806 (GRCm39) |
N167S |
probably benign |
Het |
Dmgdh |
T |
G |
13: 93,840,418 (GRCm39) |
V283G |
probably damaging |
Het |
Dmxl2 |
A |
T |
9: 54,324,229 (GRCm39) |
W1052R |
probably damaging |
Het |
Dnah6 |
A |
T |
6: 73,098,806 (GRCm39) |
V2083D |
possibly damaging |
Het |
Exoc4 |
T |
G |
6: 33,898,467 (GRCm39) |
F895L |
probably benign |
Het |
Fsip1 |
G |
T |
2: 118,082,206 (GRCm39) |
A76E |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,828,662 (GRCm39) |
I6820V |
probably benign |
Het |
Hdac10 |
G |
A |
15: 89,009,847 (GRCm39) |
P395L |
probably benign |
Het |
Ing3 |
A |
G |
6: 21,950,058 (GRCm39) |
D17G |
probably damaging |
Het |
Map3k4 |
A |
T |
17: 12,454,840 (GRCm39) |
F1383L |
possibly damaging |
Het |
Myct1 |
C |
A |
10: 5,554,513 (GRCm39) |
P127T |
probably damaging |
Het |
Or52s1 |
A |
T |
7: 102,861,942 (GRCm39) |
I281F |
possibly damaging |
Het |
Osbpl7 |
G |
T |
11: 96,958,031 (GRCm39) |
A625S |
possibly damaging |
Het |
Padi2 |
C |
T |
4: 140,677,191 (GRCm39) |
R660C |
probably benign |
Het |
Paip1 |
A |
T |
13: 119,574,607 (GRCm39) |
I185F |
probably damaging |
Het |
Pals2 |
C |
T |
6: 50,171,509 (GRCm39) |
T386I |
probably damaging |
Het |
Phykpl |
G |
A |
11: 51,484,514 (GRCm39) |
|
probably null |
Het |
Plekhg6 |
G |
A |
6: 125,349,766 (GRCm39) |
|
probably benign |
Het |
Plxna1 |
A |
T |
6: 89,334,251 (GRCm39) |
L126* |
probably null |
Het |
Rchy1 |
A |
T |
5: 92,110,577 (GRCm39) |
M1K |
probably null |
Het |
Rfx3 |
T |
C |
19: 27,793,014 (GRCm39) |
|
probably benign |
Het |
Sdr9c7 |
T |
C |
10: 127,738,267 (GRCm39) |
F182L |
probably damaging |
Het |
Sgpl1 |
A |
C |
10: 60,941,229 (GRCm39) |
V294G |
probably damaging |
Het |
Sh2b1 |
A |
G |
7: 126,071,646 (GRCm39) |
S180P |
possibly damaging |
Het |
Sorbs1 |
T |
C |
19: 40,303,125 (GRCm39) |
D488G |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,682,027 (GRCm39) |
|
probably benign |
Het |
Sycp1 |
A |
C |
3: 102,727,847 (GRCm39) |
|
probably benign |
Het |
Tmem245 |
T |
C |
4: 56,925,081 (GRCm39) |
K347E |
possibly damaging |
Het |
Tnk1 |
A |
G |
11: 69,747,749 (GRCm39) |
M51T |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,771,776 (GRCm39) |
R621H |
probably damaging |
Het |
Ubd |
G |
T |
17: 37,506,420 (GRCm39) |
R102L |
probably benign |
Het |
Vmn2r103 |
G |
T |
17: 20,014,389 (GRCm39) |
A394S |
probably benign |
Het |
Zfp324 |
T |
A |
7: 12,704,773 (GRCm39) |
C321S |
probably damaging |
Het |
Zfp488 |
G |
T |
14: 33,692,777 (GRCm39) |
Q129K |
probably benign |
Het |
Zmpste24 |
T |
A |
4: 120,918,297 (GRCm39) |
N442Y |
probably damaging |
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 |
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 |
2015-04-16 |