Incidental Mutation 'R5207:Dnai7'
ID |
402079 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnai7
|
Ensembl Gene |
ENSMUSG00000043541 |
Gene Name |
dynein axonemal intermediate chain 7 |
Synonyms |
Las1, A230084G12Rik, Casc1 |
MMRRC Submission |
042782-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R5207 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
145120560-145156731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 145124794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 510
(D510E)
|
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: D510E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062279 Gene: ENSMUSG00000043541 AA Change: D510E
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: D497E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107357 Gene: ENSMUSG00000043541 AA Change: D497E
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: D510E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144783 Gene: ENSMUSG00000043541 AA Change: D510E
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 |
0.2461 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (60/62) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
T |
1: 179,621,159 (GRCm39) |
|
probably benign |
Het |
Alg6 |
C |
T |
4: 99,607,431 (GRCm39) |
L15F |
possibly damaging |
Het |
Allc |
T |
A |
12: 28,605,325 (GRCm39) |
M325L |
probably benign |
Het |
Ap3b2 |
T |
C |
7: 81,126,517 (GRCm39) |
N361S |
possibly damaging |
Het |
Bmp8b |
A |
G |
4: 123,009,714 (GRCm39) |
|
probably benign |
Het |
Borcs6 |
A |
T |
11: 68,951,674 (GRCm39) |
T351S |
probably damaging |
Het |
Ccar1 |
T |
C |
10: 62,589,060 (GRCm39) |
R808G |
unknown |
Het |
Celsr3 |
A |
T |
9: 108,709,958 (GRCm39) |
T1480S |
probably benign |
Het |
Chdh |
C |
T |
14: 29,753,318 (GRCm39) |
P76S |
probably damaging |
Het |
Chmp7 |
T |
C |
14: 69,969,755 (GRCm39) |
S62G |
probably benign |
Het |
Cldn23 |
A |
T |
8: 36,293,182 (GRCm39) |
V102E |
probably damaging |
Het |
Csn2 |
G |
A |
5: 87,842,821 (GRCm39) |
Q69* |
probably null |
Het |
Ctrc |
A |
C |
4: 141,567,695 (GRCm39) |
I136S |
probably damaging |
Het |
Cysltr2 |
A |
C |
14: 73,266,951 (GRCm39) |
L253R |
probably damaging |
Het |
Ddr2 |
G |
A |
1: 169,812,530 (GRCm39) |
T654M |
probably damaging |
Het |
Derl2 |
G |
T |
11: 70,910,073 (GRCm39) |
|
probably null |
Het |
Dock5 |
T |
C |
14: 68,013,733 (GRCm39) |
S1330G |
probably benign |
Het |
Emp3 |
T |
C |
7: 45,569,373 (GRCm39) |
N56S |
probably benign |
Het |
Fam161a |
A |
T |
11: 22,970,583 (GRCm39) |
K195* |
probably null |
Het |
Ficd |
T |
A |
5: 113,875,072 (GRCm39) |
V47E |
probably benign |
Het |
Garin3 |
T |
C |
11: 46,295,990 (GRCm39) |
S121P |
probably benign |
Het |
Gbp10 |
T |
C |
5: 105,372,575 (GRCm39) |
T123A |
probably benign |
Het |
Gdf7 |
C |
T |
12: 8,348,371 (GRCm39) |
A309T |
unknown |
Het |
Gm14486 |
G |
T |
2: 30,548,572 (GRCm39) |
|
noncoding transcript |
Het |
Herc1 |
T |
A |
9: 66,307,151 (GRCm39) |
C990* |
probably null |
Het |
Itgb4 |
T |
C |
11: 115,897,365 (GRCm39) |
V1530A |
probably damaging |
Het |
Itpka |
G |
A |
2: 119,580,974 (GRCm39) |
R374H |
probably damaging |
Het |
Lacc1 |
T |
A |
14: 77,271,594 (GRCm39) |
|
probably null |
Het |
Med23 |
A |
T |
10: 24,771,734 (GRCm39) |
K225* |
probably null |
Het |
Mrgpra3 |
T |
A |
7: 47,239,909 (GRCm39) |
T6S |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,578,583 (GRCm39) |
N32Y |
probably damaging |
Het |
Mrps2 |
A |
G |
2: 28,359,763 (GRCm39) |
R207G |
probably damaging |
Het |
Mup20 |
A |
C |
4: 61,969,823 (GRCm39) |
|
probably null |
Het |
Nagpa |
A |
G |
16: 5,017,478 (GRCm39) |
|
probably null |
Het |
Nek3 |
A |
T |
8: 22,622,243 (GRCm39) |
|
probably benign |
Het |
Nes |
G |
A |
3: 87,885,935 (GRCm39) |
G1398E |
probably damaging |
Het |
Nf1 |
G |
T |
11: 79,345,015 (GRCm39) |
V1323L |
probably damaging |
Het |
Or5b96 |
T |
A |
19: 12,867,801 (GRCm39) |
I47F |
probably benign |
Het |
Or6b2 |
A |
T |
1: 92,407,594 (GRCm39) |
F250I |
probably benign |
Het |
Or6c2 |
T |
C |
10: 129,362,773 (GRCm39) |
F226L |
probably benign |
Het |
Paqr8 |
G |
T |
1: 21,005,482 (GRCm39) |
C212F |
probably benign |
Het |
Pcdhb1 |
T |
C |
18: 37,399,515 (GRCm39) |
Y489H |
probably damaging |
Het |
Piwil2 |
T |
C |
14: 70,629,966 (GRCm39) |
K683E |
probably damaging |
Het |
Pjvk |
A |
C |
2: 76,480,734 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
A |
T |
8: 110,359,823 (GRCm39) |
S893C |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,471,207 (GRCm39) |
T993A |
probably benign |
Het |
Ppp2r2b |
A |
T |
18: 42,821,417 (GRCm39) |
I247N |
probably damaging |
Het |
Rac2 |
T |
C |
15: 78,449,654 (GRCm39) |
N92S |
probably damaging |
Het |
Senp2 |
A |
T |
16: 21,860,130 (GRCm39) |
H501L |
possibly damaging |
Het |
Snx29 |
A |
T |
16: 11,556,227 (GRCm39) |
I753F |
probably damaging |
Het |
Tcf20 |
T |
A |
15: 82,740,386 (GRCm39) |
H355L |
probably damaging |
Het |
Tex2 |
T |
C |
11: 106,437,666 (GRCm39) |
D668G |
unknown |
Het |
Tlr12 |
G |
A |
4: 128,510,502 (GRCm39) |
Q583* |
probably null |
Het |
Tmem119 |
T |
C |
5: 113,933,289 (GRCm39) |
I171V |
probably damaging |
Het |
Ube2m |
C |
T |
7: 12,770,249 (GRCm39) |
|
probably null |
Het |
Vmn2r25 |
A |
T |
6: 123,817,062 (GRCm39) |
I173N |
probably damaging |
Het |
Whrn |
A |
T |
4: 63,350,951 (GRCm39) |
V15E |
probably damaging |
Het |
Zfp558 |
A |
C |
9: 18,368,296 (GRCm39) |
V164G |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCTTACATGCCTGCCTGG -3'
(R):5'- GGAGCTTTTCCTCACGTGTC -3'
Sequencing Primer
(F):5'- TGGGGACACACTGCCTAACTATG -3'
(R):5'- TCCTCACGTGTCTTAATACAGAAAAC -3'
|
Posted On |
2016-07-22 |