Incidental Mutation 'R6579:Dnai7'
| ID |
523920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnai7
|
| Ensembl Gene |
ENSMUSG00000043541 |
| Gene Name |
dynein axonemal intermediate chain 7 |
| Synonyms |
Las1, A230084G12Rik, Casc1 |
| MMRRC Submission |
044703-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6579 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
145120560-145156731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 145124744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 527
(M527K)
|
| 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 benign
Transcript: ENSMUST00000060797
AA Change: M527K
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
AA Change: M527K
| 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
AA Change: M514K
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
AA Change: M514K
| 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 benign
Transcript: ENSMUST00000204105
AA Change: M527K
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541
AA Change: M527K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (36/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,161,507 (GRCm39) |
V80D |
possibly damaging |
Het |
| 6330409D20Rik |
T |
C |
2: 32,630,663 (GRCm39) |
|
probably benign |
Het |
| Adam15 |
C |
T |
3: 89,252,936 (GRCm39) |
V261M |
probably damaging |
Het |
| Adam29 |
G |
T |
8: 56,325,779 (GRCm39) |
T225K |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,223,011 (GRCm39) |
T654A |
probably damaging |
Het |
| AU021092 |
T |
A |
16: 5,040,020 (GRCm39) |
I35F |
probably damaging |
Het |
| Cdk20 |
G |
T |
13: 64,584,348 (GRCm39) |
Q114H |
probably benign |
Het |
| Col22a1 |
A |
C |
15: 71,753,502 (GRCm39) |
S133A |
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,727,516 (GRCm39) |
F271Y |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,412,120 (GRCm39) |
V1332E |
probably benign |
Het |
| Dhrs7l |
A |
T |
12: 72,668,658 (GRCm39) |
D117E |
probably benign |
Het |
| Dnajc5 |
A |
G |
2: 181,189,209 (GRCm39) |
N62D |
possibly damaging |
Het |
| Gm3045 |
C |
T |
13: 56,578,103 (GRCm39) |
S180L |
probably damaging |
Het |
| Hycc1 |
A |
T |
5: 24,171,381 (GRCm39) |
V347D |
possibly damaging |
Het |
| Igkv14-130 |
T |
A |
6: 67,768,421 (GRCm39) |
Y93* |
probably null |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nell2 |
A |
T |
15: 95,282,957 (GRCm39) |
Y362N |
possibly damaging |
Het |
| Or5an1c |
C |
T |
19: 12,218,726 (GRCm39) |
V100I |
probably benign |
Het |
| Peli1 |
A |
T |
11: 21,097,059 (GRCm39) |
T150S |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,271,047 (GRCm39) |
T3169A |
probably benign |
Het |
| Polr2m |
T |
A |
9: 71,393,002 (GRCm39) |
E26V |
probably damaging |
Het |
| Rhbdf2 |
A |
G |
11: 116,495,289 (GRCm39) |
V238A |
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,496,166 (GRCm39) |
P820H |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,327,106 (GRCm39) |
T1698A |
probably damaging |
Het |
| Scgn |
C |
T |
13: 24,143,717 (GRCm39) |
A216T |
probably damaging |
Het |
| Serpina11 |
T |
A |
12: 103,951,007 (GRCm39) |
D238V |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,378,846 (GRCm39) |
E887V |
possibly damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Trak1 |
C |
A |
9: 121,272,704 (GRCm39) |
N197K |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Uchl5 |
T |
A |
1: 143,674,130 (GRCm39) |
Y211N |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,039,197 (GRCm39) |
S1226T |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,623,750 (GRCm39) |
T163A |
probably benign |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,206 (GRCm39) |
|
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 |
|
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 |
|
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'- TCTGAGATGACTGACCCATCC -3'
(R):5'- AAACTAATGTCCCTGTCTTGCATTG -3'
Sequencing Primer
(F):5'- AAGCTGGAGCCTCGCTTTTAC -3'
(R):5'- CATTGCGCAGGTAAATTCTGGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation