Incidental Mutation 'R8720:Dnai7'
ID |
670068 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnai7
|
Ensembl Gene |
ENSMUSG00000043541 |
Gene Name |
dynein axonemal intermediate chain 7 |
Synonyms |
Las1, A230084G12Rik, Casc1 |
MMRRC Submission |
068571-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R8720 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
145120560-145156731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 145150983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 30
(R30S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144783
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060797]
[ENSMUST00000111728]
[ENSMUST00000204105]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000060797
AA Change: R30S
|
SMART Domains |
Protein: ENSMUSP00000062279 Gene: ENSMUSG00000043541 AA Change: R30S
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 |
unknown
Transcript: ENSMUST00000111728
AA Change: R17S
|
SMART Domains |
Protein: ENSMUSP00000107357 Gene: ENSMUSG00000043541 AA Change: R17S
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: ENSMUST00000128070
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133671
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152138
|
Predicted Effect |
unknown
Transcript: ENSMUST00000204105
AA Change: R30S
|
SMART Domains |
Protein: ENSMUSP00000144783 Gene: ENSMUSG00000043541 AA Change: R30S
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: ENSMUST00000203558
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205162
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh3a1 |
T |
C |
11: 61,104,305 (GRCm39) |
V64A |
probably benign |
Het |
Anln |
T |
C |
9: 22,284,573 (GRCm39) |
H379R |
probably benign |
Het |
Asb2 |
A |
G |
12: 103,291,680 (GRCm39) |
Y416H |
probably damaging |
Het |
Atp2b4 |
TTCTTC |
TTCTTCGTCTTC |
1: 133,629,465 (GRCm39) |
|
probably benign |
Het |
Chsy1 |
T |
A |
7: 65,821,088 (GRCm39) |
M441K |
possibly damaging |
Het |
Cmas |
A |
G |
6: 142,716,929 (GRCm39) |
K274E |
probably damaging |
Het |
Cmip |
A |
G |
8: 118,138,010 (GRCm39) |
Y75C |
probably damaging |
Het |
Col17a1 |
T |
A |
19: 47,637,531 (GRCm39) |
|
probably benign |
Het |
Col3a1 |
A |
G |
1: 45,386,893 (GRCm39) |
Y1368C |
unknown |
Het |
Cracdl |
A |
G |
1: 37,652,522 (GRCm39) |
F1095S |
possibly damaging |
Het |
Cspg4 |
C |
T |
9: 56,794,797 (GRCm39) |
T844I |
probably benign |
Het |
Ect2 |
A |
T |
3: 27,169,647 (GRCm39) |
N766K |
probably damaging |
Het |
Fanci |
C |
A |
7: 79,089,425 (GRCm39) |
Q954K |
possibly damaging |
Het |
Gm30083 |
A |
G |
14: 33,736,895 (GRCm39) |
S21P |
probably benign |
Het |
Gulo |
C |
T |
14: 66,225,074 (GRCm39) |
E422K |
probably benign |
Het |
Helq |
A |
G |
5: 100,914,561 (GRCm39) |
V977A |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,389,105 (GRCm39) |
D3874G |
probably benign |
Het |
Hsf4 |
G |
T |
8: 105,996,605 (GRCm39) |
D34Y |
probably damaging |
Het |
Il18 |
G |
A |
9: 50,476,684 (GRCm39) |
|
probably benign |
Het |
Il22ra2 |
A |
T |
10: 19,508,599 (GRCm39) |
E209V |
probably damaging |
Het |
Ino80 |
A |
T |
2: 119,232,868 (GRCm39) |
L1150Q |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,691,792 (GRCm39) |
F231L |
probably damaging |
Het |
Krtap19-4 |
A |
G |
16: 88,681,846 (GRCm39) |
Y37H |
unknown |
Het |
Lama4 |
A |
T |
10: 38,971,079 (GRCm39) |
D1548V |
probably damaging |
Het |
Lrig2 |
C |
T |
3: 104,418,998 (GRCm39) |
A4T |
probably damaging |
Het |
Lrp4 |
A |
T |
2: 91,324,459 (GRCm39) |
I1265F |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,552,896 (GRCm39) |
T4466S |
probably benign |
Het |
Myo1e |
A |
G |
9: 70,204,570 (GRCm39) |
I57V |
possibly damaging |
Het |
Naip2 |
A |
T |
13: 100,298,630 (GRCm39) |
Y469N |
probably benign |
Het |
Nav1 |
G |
A |
1: 135,388,464 (GRCm39) |
R1065C |
unknown |
Het |
Nps |
C |
T |
7: 134,874,045 (GRCm39) |
R72C |
probably damaging |
Het |
Nup210l |
G |
A |
3: 90,117,681 (GRCm39) |
V1796I |
probably benign |
Het |
Pdzd7 |
T |
C |
19: 45,024,667 (GRCm39) |
K451E |
probably benign |
Het |
Pigv |
A |
T |
4: 133,392,968 (GRCm39) |
D67E |
probably damaging |
Het |
Pik3cg |
A |
T |
12: 32,243,688 (GRCm39) |
F928I |
probably benign |
Het |
Pkn3 |
A |
G |
2: 29,975,196 (GRCm39) |
N486D |
probably benign |
Het |
Ppp2r3d |
A |
G |
9: 101,089,084 (GRCm39) |
L413P |
probably damaging |
Het |
Rbm45 |
G |
T |
2: 76,210,711 (GRCm39) |
R414L |
probably damaging |
Het |
Sap30l |
A |
T |
11: 57,698,875 (GRCm39) |
N116I |
probably damaging |
Het |
Slc17a5 |
A |
T |
9: 78,485,945 (GRCm39) |
F47I |
probably damaging |
Het |
Slco1a7 |
A |
T |
6: 141,668,852 (GRCm39) |
S527T |
probably benign |
Het |
Srbd1 |
A |
T |
17: 86,358,571 (GRCm39) |
D659E |
probably damaging |
Het |
Sycp3 |
A |
G |
10: 88,298,394 (GRCm39) |
Q40R |
probably benign |
Het |
Trip13 |
T |
C |
13: 74,063,590 (GRCm39) |
S374G |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,208,149 (GRCm39) |
|
probably null |
Het |
Ush2a |
G |
A |
1: 188,090,715 (GRCm39) |
V449I |
probably benign |
Het |
Vmn1r211 |
A |
T |
13: 23,036,031 (GRCm39) |
V212D |
probably damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,792,194 (GRCm39) |
I21F |
possibly damaging |
Het |
Zmiz2 |
A |
T |
11: 6,349,904 (GRCm39) |
I491F |
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 |
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 |
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'- TGACTTCAGTGCACGCTCAG -3'
(R):5'- GTGCTGACACAAATTAGCTGTC -3'
Sequencing Primer
(F):5'- ACGCTCAGGTGTGGCTG -3'
(R):5'- TTGTAAGCTGCCTGACATGGACC -3'
|
Posted On |
2021-04-30 |