Incidental Mutation 'R2264:Dnai7'
ID |
243994 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnai7
|
Ensembl Gene |
ENSMUSG00000043541 |
Gene Name |
dynein axonemal intermediate chain 7 |
Synonyms |
Las1, A230084G12Rik, Casc1 |
MMRRC Submission |
040264-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R2264 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
145120560-145156731 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
A to G
at 145154155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107357
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039729]
[ENSMUST00000060797]
[ENSMUST00000111719]
[ENSMUST00000111721]
[ENSMUST00000111723]
[ENSMUST00000111724]
[ENSMUST00000204105]
[ENSMUST00000111725]
[ENSMUST00000111728]
[ENSMUST00000111726]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039729
|
SMART Domains |
Protein: ENSMUSP00000039433 Gene: ENSMUSG00000040370
Domain | Start | End | E-Value | Type |
Pfam:Complex1_LYR
|
7 |
63 |
2.6e-15 |
PFAM |
Pfam:Complex1_LYR_1
|
7 |
74 |
3.6e-14 |
PFAM |
Pfam:Complex1_LYR_2
|
9 |
85 |
8.2e-9 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000060797
AA Change: S5P
|
SMART Domains |
Protein: ENSMUSP00000062279 Gene: ENSMUSG00000043541 AA Change: S5P
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 benign
Transcript: ENSMUST00000111719
|
SMART Domains |
Protein: ENSMUSP00000107348 Gene: ENSMUSG00000040370
Domain | Start | End | E-Value | Type |
Pfam:Complex1_LYR
|
7 |
63 |
2.6e-15 |
PFAM |
Pfam:Complex1_LYR_1
|
7 |
74 |
3.6e-14 |
PFAM |
Pfam:Complex1_LYR_2
|
9 |
85 |
8.2e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111721
|
SMART Domains |
Protein: ENSMUSP00000107350 Gene: ENSMUSG00000040370
Domain | Start | End | E-Value | Type |
Pfam:Complex1_LYR
|
7 |
63 |
5.5e-15 |
PFAM |
Pfam:Complex1_LYR_1
|
7 |
67 |
5.5e-15 |
PFAM |
Pfam:Complex1_LYR_2
|
9 |
85 |
9.2e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111723
|
SMART Domains |
Protein: ENSMUSP00000107352 Gene: ENSMUSG00000040370
Domain | Start | End | E-Value | Type |
Pfam:Complex1_LYR
|
7 |
63 |
2.6e-15 |
PFAM |
Pfam:Complex1_LYR_1
|
7 |
74 |
3.6e-14 |
PFAM |
Pfam:Complex1_LYR_2
|
9 |
85 |
8.2e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111724
|
SMART Domains |
Protein: ENSMUSP00000107353 Gene: ENSMUSG00000040370
Domain | Start | End | E-Value | Type |
Pfam:Complex1_LYR
|
7 |
63 |
2.6e-15 |
PFAM |
Pfam:Complex1_LYR_1
|
7 |
74 |
3.6e-14 |
PFAM |
Pfam:Complex1_LYR_2
|
9 |
85 |
8.2e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133671
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128070
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152138
|
Predicted Effect |
unknown
Transcript: ENSMUST00000204105
AA Change: S5P
|
SMART Domains |
Protein: ENSMUSP00000144783 Gene: ENSMUSG00000043541 AA Change: S5P
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126007
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111727
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111725
|
SMART Domains |
Protein: ENSMUSP00000107354 Gene: ENSMUSG00000040370
Domain | Start | End | E-Value | Type |
Pfam:Complex1_LYR
|
7 |
63 |
2.6e-15 |
PFAM |
Pfam:Complex1_LYR_1
|
7 |
74 |
3.6e-14 |
PFAM |
Pfam:Complex1_LYR_2
|
9 |
85 |
8.2e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111728
|
SMART Domains |
Protein: ENSMUSP00000107357 Gene: ENSMUSG00000043541
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: ENSMUST00000111726
|
SMART Domains |
Protein: ENSMUSP00000107355 Gene: ENSMUSG00000040370
Domain | Start | End | E-Value | Type |
Pfam:Complex1_LYR
|
7 |
63 |
2.6e-15 |
PFAM |
Pfam:Complex1_LYR_1
|
7 |
74 |
3.6e-14 |
PFAM |
Pfam:Complex1_LYR_2
|
9 |
85 |
8.2e-9 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
94% (65/69) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
G |
11: 119,901,100 (GRCm39) |
S1042P |
probably damaging |
Het |
Armc1 |
C |
T |
3: 19,189,033 (GRCm39) |
V211I |
probably damaging |
Het |
B4galnt3 |
T |
C |
6: 120,180,771 (GRCm39) |
*986W |
probably null |
Het |
BC024139 |
T |
A |
15: 76,010,117 (GRCm39) |
D105V |
probably damaging |
Het |
BC049715 |
C |
T |
6: 136,817,434 (GRCm39) |
Q225* |
probably null |
Het |
Cadps2 |
T |
C |
6: 23,323,339 (GRCm39) |
H1043R |
probably benign |
Het |
Ccdc42 |
T |
C |
11: 68,478,477 (GRCm39) |
V33A |
probably benign |
Het |
Cldn1 |
A |
G |
16: 26,177,949 (GRCm39) |
Y159H |
probably damaging |
Het |
Cog6 |
A |
T |
3: 52,900,332 (GRCm39) |
C476* |
probably null |
Het |
Col14a1 |
T |
G |
15: 55,330,086 (GRCm39) |
|
probably null |
Het |
Crisp1 |
C |
T |
17: 40,623,965 (GRCm39) |
M1I |
probably null |
Het |
Dip2b |
T |
A |
15: 100,101,097 (GRCm39) |
S1297T |
probably benign |
Het |
Dlgap4 |
A |
G |
2: 156,543,383 (GRCm39) |
E262G |
probably benign |
Het |
Dpp4 |
A |
C |
2: 62,208,583 (GRCm39) |
V187G |
possibly damaging |
Het |
F5 |
A |
G |
1: 164,021,971 (GRCm39) |
D1482G |
probably benign |
Het |
Fads6 |
T |
A |
11: 115,177,061 (GRCm39) |
T132S |
probably damaging |
Het |
Fat4 |
A |
G |
3: 38,944,571 (GRCm39) |
I1155V |
probably benign |
Het |
Fermt1 |
C |
T |
2: 132,757,110 (GRCm39) |
|
probably null |
Het |
Fstl1 |
C |
T |
16: 37,597,653 (GRCm39) |
|
probably benign |
Het |
Get3 |
G |
A |
8: 85,751,887 (GRCm39) |
|
probably benign |
Het |
Gm5089 |
T |
C |
14: 122,673,514 (GRCm39) |
Y69C |
unknown |
Het |
Gm9871 |
T |
C |
6: 101,773,201 (GRCm39) |
|
noncoding transcript |
Het |
Gpr89 |
A |
G |
3: 96,779,831 (GRCm39) |
S375P |
probably damaging |
Het |
Gtf2h4 |
A |
G |
17: 35,979,556 (GRCm39) |
|
probably benign |
Het |
Gtsf1 |
T |
A |
15: 103,328,391 (GRCm39) |
N148I |
possibly damaging |
Het |
Hexa |
T |
C |
9: 59,462,660 (GRCm39) |
S129P |
probably damaging |
Het |
Iigp1 |
A |
T |
18: 60,523,738 (GRCm39) |
E285D |
probably benign |
Het |
Il23r |
T |
A |
6: 67,403,651 (GRCm39) |
|
probably null |
Het |
Iqch |
T |
C |
9: 63,419,581 (GRCm39) |
K463R |
probably benign |
Het |
Kcnd1 |
A |
G |
X: 7,690,323 (GRCm39) |
|
probably null |
Het |
Kif26b |
A |
T |
1: 178,756,407 (GRCm39) |
|
probably null |
Het |
Loxl1 |
A |
G |
9: 58,204,961 (GRCm39) |
V418A |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,312,710 (GRCm39) |
D2526G |
possibly damaging |
Het |
Map4 |
G |
T |
9: 109,910,525 (GRCm39) |
G851C |
probably damaging |
Het |
Mtmr11 |
A |
T |
3: 96,076,413 (GRCm39) |
E456V |
possibly damaging |
Het |
Muc13 |
G |
A |
16: 33,628,409 (GRCm39) |
|
probably null |
Het |
Myo18a |
C |
A |
11: 77,710,798 (GRCm39) |
|
probably benign |
Het |
Nphp4 |
T |
A |
4: 152,587,465 (GRCm39) |
|
probably benign |
Het |
Nrg3 |
T |
C |
14: 38,103,659 (GRCm39) |
E445G |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,686,941 (GRCm39) |
|
probably null |
Het |
Or8b1 |
G |
T |
9: 38,399,351 (GRCm39) |
V9L |
possibly damaging |
Het |
Parp6 |
T |
C |
9: 59,531,288 (GRCm39) |
S57P |
probably damaging |
Het |
Pcdhb12 |
A |
G |
18: 37,569,858 (GRCm39) |
N335D |
probably damaging |
Het |
Pdzph1 |
T |
C |
17: 59,195,162 (GRCm39) |
|
probably null |
Het |
Pea15a |
C |
T |
1: 172,026,704 (GRCm39) |
R79H |
probably benign |
Het |
Pik3ca |
A |
C |
3: 32,492,076 (GRCm39) |
I225L |
possibly damaging |
Het |
Pim3 |
T |
A |
15: 88,748,793 (GRCm39) |
I270N |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,829,112 (GRCm39) |
R1043S |
probably damaging |
Het |
Plekhg6 |
A |
G |
6: 125,354,431 (GRCm39) |
S70P |
probably benign |
Het |
Ptpn13 |
T |
A |
5: 103,637,527 (GRCm39) |
D138E |
possibly damaging |
Het |
Rap1gap |
T |
C |
4: 137,455,034 (GRCm39) |
L354P |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sf3a1 |
T |
A |
11: 4,127,443 (GRCm39) |
S590T |
probably benign |
Het |
Slc14a2 |
T |
C |
18: 78,206,304 (GRCm39) |
|
probably benign |
Het |
Slfn3 |
T |
G |
11: 83,103,798 (GRCm39) |
I223S |
probably benign |
Het |
Smarca1 |
C |
T |
X: 46,964,160 (GRCm39) |
V331I |
probably benign |
Het |
Soat1 |
A |
G |
1: 156,265,267 (GRCm39) |
|
probably benign |
Het |
Tinagl1 |
A |
G |
4: 130,061,226 (GRCm39) |
V308A |
probably benign |
Het |
Tomm22 |
T |
A |
15: 79,555,488 (GRCm39) |
Y78N |
probably damaging |
Het |
Ttll1 |
T |
C |
15: 83,380,609 (GRCm39) |
Y252C |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,623,474 (GRCm39) |
V15368I |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,147,684 (GRCm39) |
|
probably benign |
Het |
Wbp2 |
T |
C |
11: 115,970,424 (GRCm39) |
|
probably null |
Het |
Xkr7 |
A |
T |
2: 152,896,177 (GRCm39) |
I344F |
probably damaging |
Het |
Zfp947 |
A |
T |
17: 22,364,919 (GRCm39) |
C252S |
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 |
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 |
145,120,971 (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'- ACACCGGTCAGCACTAAATG -3'
(R):5'- AGCTTGCTCTCCTATCACAGAC -3'
Sequencing Primer
(F):5'- TGGGAAACACATCTGTAACTATGAAG -3'
(R):5'- ACTCAAAAAGATGCTTCGTGAG -3'
|
Posted On |
2014-10-16 |