Incidental Mutation 'R8385:Dnai7'
ID |
647116 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnai7
|
Ensembl Gene |
ENSMUSG00000043541 |
Gene Name |
dynein axonemal intermediate chain 7 |
Synonyms |
Las1, A230084G12Rik, Casc1 |
MMRRC Submission |
067751-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R8385 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
145120560-145156731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 145120918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 685
(E685K)
|
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: E685K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062279 Gene: ENSMUSG00000043541 AA Change: E685K
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: E634K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107357 Gene: ENSMUSG00000043541 AA Change: E634K
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Brap |
C |
T |
5: 121,823,197 (GRCm39) |
T473I |
probably benign |
Het |
Cacna1e |
T |
A |
1: 154,319,687 (GRCm39) |
M1400L |
probably damaging |
Het |
Catsper2 |
A |
G |
2: 121,240,621 (GRCm39) |
I127T |
possibly damaging |
Het |
Dbt |
A |
T |
3: 116,317,039 (GRCm39) |
I72F |
probably damaging |
Het |
Ddhd2 |
T |
C |
8: 26,225,041 (GRCm39) |
H592R |
probably damaging |
Het |
Disp2 |
T |
A |
2: 118,620,891 (GRCm39) |
M541K |
probably damaging |
Het |
Dnmbp |
T |
C |
19: 43,878,090 (GRCm39) |
D327G |
probably benign |
Het |
Dvl1 |
A |
G |
4: 155,940,037 (GRCm39) |
S390G |
possibly damaging |
Het |
Fbxo22 |
A |
G |
9: 55,121,233 (GRCm39) |
D106G |
probably damaging |
Het |
Gfm2 |
A |
G |
13: 97,301,519 (GRCm39) |
T441A |
probably benign |
Het |
Gm5431 |
T |
C |
11: 48,780,347 (GRCm39) |
I192V |
probably damaging |
Het |
Gosr1 |
T |
A |
11: 76,620,967 (GRCm39) |
T241S |
possibly damaging |
Het |
Hk2 |
T |
C |
6: 82,706,527 (GRCm39) |
S792G |
probably benign |
Het |
Itsn1 |
A |
C |
16: 91,690,699 (GRCm39) |
K1302Q |
unknown |
Het |
Kif16b |
T |
C |
2: 142,554,258 (GRCm39) |
K847E |
probably benign |
Het |
Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
Mark3 |
A |
G |
12: 111,621,808 (GRCm39) |
D650G |
possibly damaging |
Het |
Mgat4f |
A |
G |
1: 134,318,376 (GRCm39) |
K383E |
probably benign |
Het |
Mob3b |
T |
C |
4: 34,985,980 (GRCm39) |
Y186C |
probably damaging |
Het |
Mphosph9 |
T |
C |
5: 124,450,785 (GRCm39) |
K329E |
probably benign |
Het |
Mta1 |
A |
T |
12: 113,095,085 (GRCm39) |
M448L |
probably benign |
Het |
Mterf1a |
A |
T |
5: 3,941,384 (GRCm39) |
N161K |
probably damaging |
Het |
Myo10 |
T |
A |
15: 25,804,484 (GRCm39) |
I1593N |
probably damaging |
Het |
Naca |
A |
G |
10: 127,878,307 (GRCm39) |
N1113S |
unknown |
Het |
Or2w4 |
T |
C |
13: 21,795,522 (GRCm39) |
I206V |
probably benign |
Het |
Or5e1 |
T |
G |
7: 108,354,511 (GRCm39) |
Y149* |
probably null |
Het |
Pcdhga1 |
A |
T |
18: 37,795,149 (GRCm39) |
D51V |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,711,082 (GRCm39) |
E1380G |
probably damaging |
Het |
Pkd1 |
G |
A |
17: 24,794,702 (GRCm39) |
V2130M |
possibly damaging |
Het |
Pla2g4c |
C |
T |
7: 13,063,589 (GRCm39) |
P19S |
probably benign |
Het |
Popdc2 |
G |
A |
16: 38,183,262 (GRCm39) |
V82I |
probably benign |
Het |
Ppfibp2 |
A |
G |
7: 107,296,894 (GRCm39) |
R203G |
probably benign |
Het |
Rab19 |
T |
A |
6: 39,360,892 (GRCm39) |
N13K |
probably benign |
Het |
Raet1d |
T |
A |
10: 22,246,817 (GRCm39) |
D48E |
probably benign |
Het |
Rell1 |
T |
A |
5: 64,087,861 (GRCm39) |
K136* |
probably null |
Het |
Slc38a4 |
A |
G |
15: 96,897,393 (GRCm39) |
I474T |
probably damaging |
Het |
Slf1 |
T |
C |
13: 77,254,109 (GRCm39) |
M243V |
probably benign |
Het |
Spata31f1a |
C |
T |
4: 42,850,509 (GRCm39) |
R549H |
possibly damaging |
Het |
Speer4c2 |
A |
T |
5: 15,857,669 (GRCm39) |
S203T |
unknown |
Het |
Spg11 |
A |
T |
2: 121,927,802 (GRCm39) |
S661T |
probably benign |
Het |
Thra |
C |
G |
11: 98,659,177 (GRCm39) |
S435R |
probably benign |
Het |
Tmem181a |
T |
C |
17: 6,339,274 (GRCm39) |
I61T |
probably benign |
Het |
Ttpa |
G |
A |
4: 20,028,483 (GRCm39) |
G247S |
probably damaging |
Het |
Usp17lb |
C |
T |
7: 104,489,830 (GRCm39) |
V366I |
possibly damaging |
Het |
Vit |
A |
T |
17: 78,927,066 (GRCm39) |
Q337L |
probably benign |
Het |
Vmn2r102 |
A |
G |
17: 19,914,088 (GRCm39) |
Y551C |
possibly damaging |
Het |
Vps52 |
T |
C |
17: 34,181,791 (GRCm39) |
L539P |
probably damaging |
Het |
Ythdc1 |
C |
A |
5: 86,975,961 (GRCm39) |
P529T |
possibly damaging |
Het |
Zdhhc13 |
T |
C |
7: 48,455,444 (GRCm39) |
|
probably null |
Het |
Zfp282 |
A |
T |
6: 47,882,023 (GRCm39) |
Y570F |
possibly damaging |
Het |
Zfp872 |
A |
T |
9: 22,111,407 (GRCm39) |
K295N |
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 |
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'- ACACACGCTGTAAGGGCTAG -3'
(R):5'- TGAGAGACTTATCTGCAAGCTG -3'
Sequencing Primer
(F):5'- CGCTGTAAGGGCTAGGAATAGC -3'
(R):5'- GGTACCCAGCAGTTCCATC -3'
|
Posted On |
2020-09-02 |