Incidental Mutation 'R9118:Dnai7'
ID |
692639 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnai7
|
Ensembl Gene |
ENSMUSG00000043541 |
Gene Name |
dynein axonemal intermediate chain 7 |
Synonyms |
Las1, A230084G12Rik, Casc1 |
MMRRC Submission |
068921-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R9118 (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 G
at 145120971 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 667
(L667P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062279
(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: L667P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062279 Gene: ENSMUSG00000043541 AA Change: L667P
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 |
probably damaging
Transcript: ENSMUST00000111728
AA Change: L616P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107357 Gene: ENSMUSG00000043541 AA Change: L616P
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 |
probably benign
Transcript: ENSMUST00000135984
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204105
|
SMART Domains |
Protein: ENSMUSP00000144783 Gene: ENSMUSG00000043541
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
97% (31/32) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa1b |
A |
T |
9: 118,985,957 (GRCm39) |
S36T |
probably benign |
Het |
Aifm2 |
C |
T |
10: 61,561,681 (GRCm39) |
T9I |
probably benign |
Het |
Ano5 |
T |
A |
7: 51,220,122 (GRCm39) |
F421I |
probably damaging |
Het |
Cacna1a |
G |
A |
8: 85,262,715 (GRCm39) |
V372M |
probably damaging |
Het |
Col6a5 |
A |
T |
9: 105,755,853 (GRCm39) |
|
probably benign |
Het |
Colgalt2 |
A |
G |
1: 152,378,906 (GRCm39) |
|
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,879,925 (GRCm39) |
D421G |
possibly damaging |
Het |
Dgat1 |
A |
T |
15: 76,386,718 (GRCm39) |
W440R |
probably damaging |
Het |
Dnah5 |
TGTCCGACTACAACATCGAGACGGCCAAGCGCGTC |
TGTC |
15: 28,401,994 (GRCm39) |
|
probably null |
Het |
Eif4h |
C |
A |
5: 134,656,481 (GRCm39) |
V70L |
probably benign |
Het |
Gabrd |
C |
A |
4: 155,470,475 (GRCm39) |
V326L |
possibly damaging |
Het |
Krt1c |
C |
T |
15: 101,722,976 (GRCm39) |
E341K |
probably damaging |
Het |
Lrp4 |
C |
T |
2: 91,308,927 (GRCm39) |
A538V |
possibly damaging |
Het |
Mfap3l |
G |
A |
8: 61,109,716 (GRCm39) |
V31M |
probably damaging |
Het |
Mroh2b |
T |
C |
15: 4,991,573 (GRCm39) |
I1557T |
possibly damaging |
Het |
Or2y16 |
A |
T |
11: 49,335,409 (GRCm39) |
I244F |
probably benign |
Het |
Or5an11 |
T |
C |
19: 12,246,263 (GRCm39) |
V223A |
probably benign |
Het |
Pcyt2 |
G |
A |
11: 120,503,899 (GRCm39) |
P183L |
|
Het |
Rapsn |
A |
G |
2: 90,875,378 (GRCm39) |
H387R |
probably damaging |
Het |
Scaf11 |
G |
A |
15: 96,319,886 (GRCm39) |
A259V |
probably benign |
Het |
Septin9 |
A |
G |
11: 117,157,398 (GRCm39) |
D11G |
probably benign |
Het |
Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
Slc7a2 |
T |
A |
8: 41,351,994 (GRCm39) |
I19N |
possibly damaging |
Het |
Synpr |
T |
C |
14: 13,608,673 (GRCm38) |
V171A |
probably damaging |
Het |
Tmed7 |
T |
C |
18: 46,726,338 (GRCm39) |
N139S |
probably benign |
Het |
Tnks1bp1 |
G |
T |
2: 84,893,720 (GRCm39) |
G1216W |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,386,839 (GRCm39) |
V2338E |
probably damaging |
Het |
Vmn1r152 |
A |
T |
7: 22,222,992 (GRCm39) |
I201F |
|
Het |
Vmn2r106 |
C |
A |
17: 20,505,667 (GRCm39) |
W9L |
probably benign |
Het |
Vmn2r9 |
A |
G |
5: 108,990,937 (GRCm39) |
V808A |
probably damaging |
Het |
Zfp646 |
A |
G |
7: 127,480,810 (GRCm39) |
T996A |
|
Het |
Zng1 |
T |
C |
19: 24,920,048 (GRCm39) |
R190G |
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 |
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 |
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 |
145,120,900 (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'- TACACACGCTGTAAGGGCTAG -3'
(R):5'- GAGAGACTTATCTGCAAGCTGGG -3'
Sequencing Primer
(F):5'- CGCTGTAAGGGCTAGGAATAGC -3'
(R):5'- ACTTATCTGCAAGCTGGGTAATTTG -3'
|
Posted On |
2021-12-30 |