Incidental Mutation 'R0011:Dnai7'
ID |
19129 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnai7
|
Ensembl Gene |
ENSMUSG00000043541 |
Gene Name |
dynein axonemal intermediate chain 7 |
Synonyms |
Las1, A230084G12Rik, Casc1 |
MMRRC Submission |
038306-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R0011 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
145120560-145156731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 145124781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 515
(M515L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032396]
[ENSMUST00000060797]
[ENSMUST00000111728]
[ENSMUST00000135984]
[ENSMUST00000204105]
|
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 |
probably damaging
Transcript: ENSMUST00000060797
AA Change: M515L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000062279 Gene: ENSMUSG00000043541 AA Change: M515L
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: M502L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000107357 Gene: ENSMUSG00000043541 AA Change: M502L
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
45 |
N/A |
INTRINSIC |
Pfam:Casc1
|
228 |
456 |
6.1e-15 |
PFAM |
|
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 |
noncoding transcript
Transcript: ENSMUST00000135191
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135984
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000204105
AA Change: M515L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000144783 Gene: ENSMUSG00000043541 AA Change: M515L
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: ENSMUST00000141307
|
Meta Mutation Damage Score |
0.1298 |
Coding Region Coverage |
- 1x: 78.3%
- 3x: 67.8%
- 10x: 41.6%
- 20x: 22.3%
|
Validation Efficiency |
92% (85/92) |
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 |
Ank3 |
A |
G |
10: 69,815,281 (GRCm39) |
|
probably benign |
Het |
Art3 |
T |
A |
5: 92,551,471 (GRCm39) |
Y17N |
probably damaging |
Het |
Asic3 |
C |
T |
5: 24,622,490 (GRCm39) |
|
probably benign |
Het |
Brip1 |
C |
A |
11: 86,077,824 (GRCm39) |
K201N |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,324,364 (GRCm39) |
F6S |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,831,722 (GRCm39) |
L389Q |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,901,087 (GRCm39) |
C156S |
probably damaging |
Het |
Chia1 |
A |
G |
3: 106,038,290 (GRCm39) |
|
probably benign |
Het |
Cops4 |
C |
A |
5: 100,675,847 (GRCm39) |
Q28K |
probably benign |
Het |
Epha7 |
G |
A |
4: 28,962,564 (GRCm39) |
D961N |
probably benign |
Het |
Grin2c |
T |
C |
11: 115,146,576 (GRCm39) |
Y476C |
probably damaging |
Het |
Ift70a2 |
T |
A |
2: 75,806,561 (GRCm39) |
R650S |
probably damaging |
Het |
Igf2bp1 |
T |
C |
11: 95,896,410 (GRCm39) |
D17G |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,049,351 (GRCm39) |
V322E |
probably damaging |
Het |
Krt35 |
T |
A |
11: 99,984,502 (GRCm39) |
Q331L |
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
Msh2 |
T |
C |
17: 87,987,521 (GRCm39) |
|
probably benign |
Het |
Ncoa1 |
A |
C |
12: 4,372,896 (GRCm39) |
F57L |
possibly damaging |
Het |
Npy4r |
C |
T |
14: 33,868,680 (GRCm39) |
V203M |
probably damaging |
Het |
Pcdhgb8 |
T |
C |
18: 37,897,335 (GRCm39) |
S802P |
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,833,048 (GRCm39) |
S152P |
probably damaging |
Het |
Rasgef1b |
T |
C |
5: 99,380,213 (GRCm39) |
Y344C |
probably damaging |
Het |
Rdh19 |
T |
A |
10: 127,692,780 (GRCm39) |
L149Q |
probably damaging |
Het |
Shtn1 |
A |
G |
19: 59,020,650 (GRCm39) |
S191P |
possibly damaging |
Het |
Tmem202 |
T |
A |
9: 59,432,084 (GRCm39) |
N81I |
probably benign |
Het |
Trim58 |
A |
T |
11: 58,533,946 (GRCm39) |
T167S |
probably benign |
Het |
Trp53i11 |
A |
T |
2: 93,029,698 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,640,699 (GRCm39) |
H5356R |
probably damaging |
Het |
Tyrp1 |
C |
T |
4: 80,759,030 (GRCm39) |
T301I |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,125,536 (GRCm39) |
I448K |
possibly damaging |
Het |
Wscd1 |
T |
C |
11: 71,679,654 (GRCm39) |
V509A |
probably damaging |
Het |
Zfp251 |
A |
G |
15: 76,738,754 (GRCm39) |
V108A |
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 |
|
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 |
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 |
2013-03-25 |