Incidental Mutation 'R5359:Dnai7'
| ID |
424238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnai7
|
| Ensembl Gene |
ENSMUSG00000043541 |
| Gene Name |
dynein axonemal intermediate chain 7 |
| Synonyms |
Las1, A230084G12Rik, Casc1 |
| MMRRC Submission |
042938-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R5359 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
145120560-145156731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 145142618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 120
(T120P)
|
| 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: T120P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
AA Change: T120P
| 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: T107P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
AA Change: T107P
| 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: ENSMUST00000133671
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152138
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204105
AA Change: T120P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541
AA Change: T120P
| 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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5b1 |
T |
A |
19: 5,619,126 (GRCm39) |
I182N |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,840,762 (GRCm39) |
C701* |
probably null |
Het |
| Bcr |
T |
A |
10: 75,001,917 (GRCm39) |
F940L |
probably damaging |
Het |
| Cav2 |
A |
T |
6: 17,287,064 (GRCm39) |
|
probably benign |
Het |
| Cdk2 |
T |
C |
10: 128,539,857 (GRCm39) |
|
probably benign |
Het |
| Clic4 |
G |
A |
4: 134,944,446 (GRCm39) |
A243V |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,838,296 (GRCm39) |
V99D |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,497,169 (GRCm39) |
E1110G |
probably damaging |
Het |
| Dhx30 |
T |
C |
9: 109,922,203 (GRCm39) |
N160D |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,890,472 (GRCm39) |
M268T |
possibly damaging |
Het |
| Dspp |
T |
A |
5: 104,323,752 (GRCm39) |
D298E |
probably damaging |
Het |
| Elane |
A |
G |
10: 79,722,870 (GRCm39) |
E92G |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,211,704 (GRCm39) |
D197E |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,272,164 (GRCm39) |
|
probably null |
Het |
| Gm1968 |
A |
T |
16: 29,777,617 (GRCm39) |
|
noncoding transcript |
Het |
| Hydin |
T |
A |
8: 111,265,004 (GRCm39) |
V2729E |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,416,707 (GRCm39) |
T106A |
probably benign |
Het |
| Kcnj6 |
G |
C |
16: 94,633,312 (GRCm39) |
Y248* |
probably null |
Het |
| Mllt3 |
A |
G |
4: 87,759,164 (GRCm39) |
S295P |
probably benign |
Het |
| Or2w1b |
A |
C |
13: 21,300,437 (GRCm39) |
T192P |
probably damaging |
Het |
| Pex11b |
G |
A |
3: 96,551,229 (GRCm39) |
C224Y |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,599,121 (GRCm39) |
Y79C |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,974,178 (GRCm39) |
Y88C |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,480,354 (GRCm39) |
N99S |
probably benign |
Het |
| Pyroxd1 |
T |
G |
6: 142,307,717 (GRCm39) |
Y496D |
probably damaging |
Het |
| Rasef |
A |
G |
4: 73,689,565 (GRCm39) |
L68P |
probably damaging |
Het |
| Rgs13 |
T |
A |
1: 144,015,322 (GRCm39) |
M132L |
probably damaging |
Het |
| RP24-187P11.4 |
T |
G |
9: 109,349,944 (GRCm39) |
|
noncoding transcript |
Het |
| Rsph4a |
A |
G |
10: 33,784,232 (GRCm39) |
T285A |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,606,186 (GRCm39) |
|
probably null |
Het |
| Slc30a1 |
T |
A |
1: 191,641,865 (GRCm39) |
*504R |
probably null |
Het |
| Spcs1 |
T |
C |
14: 30,722,074 (GRCm39) |
R156G |
probably damaging |
Het |
| Supv3l1 |
A |
G |
10: 62,268,178 (GRCm39) |
F556L |
probably damaging |
Het |
| Thumpd2 |
C |
T |
17: 81,334,206 (GRCm39) |
V461M |
probably benign |
Het |
| Timm50 |
A |
G |
7: 28,007,592 (GRCm39) |
L158P |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,649,731 (GRCm39) |
|
silent |
Het |
| Ttn |
G |
A |
2: 76,726,147 (GRCm39) |
Q1807* |
probably null |
Het |
| Zdhhc14 |
A |
G |
17: 5,543,821 (GRCm39) |
I34V |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,394,814 (GRCm39) |
M506K |
possibly 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTAAGGTGGGGAAGCACA -3'
(R):5'- GGTACTTATGTTGAGGCTTCAGATT -3'
Sequencing Primer
(F):5'- AGGCAGGCAGGGCTCAG -3'
(R):5'- CAATGGATAAATGTGCTTGCCGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation