Incidental Mutation 'R3434:Ift74'
ID |
266336 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift74
|
Ensembl Gene |
ENSMUSG00000028576 |
Gene Name |
intraflagellar transport 74 |
Synonyms |
Cmg1, Ccdc2, 1700029H06Rik, b2b796Clo |
MMRRC Submission |
040652-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3434 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
94502728-94581466 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 94510089 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030311]
[ENSMUST00000030311]
[ENSMUST00000107104]
[ENSMUST00000107104]
|
AlphaFold |
Q8BKE9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030311
|
SMART Domains |
Protein: ENSMUSP00000030311 Gene: ENSMUSG00000028576
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
low complexity region
|
47 |
62 |
N/A |
INTRINSIC |
coiled coil region
|
98 |
271 |
N/A |
INTRINSIC |
coiled coil region
|
302 |
382 |
N/A |
INTRINSIC |
coiled coil region
|
430 |
490 |
N/A |
INTRINSIC |
coiled coil region
|
512 |
546 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000030311
|
SMART Domains |
Protein: ENSMUSP00000030311 Gene: ENSMUSG00000028576
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
low complexity region
|
47 |
62 |
N/A |
INTRINSIC |
coiled coil region
|
98 |
271 |
N/A |
INTRINSIC |
coiled coil region
|
302 |
382 |
N/A |
INTRINSIC |
coiled coil region
|
430 |
490 |
N/A |
INTRINSIC |
coiled coil region
|
512 |
546 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107104
|
SMART Domains |
Protein: ENSMUSP00000102721 Gene: ENSMUSG00000028576
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
low complexity region
|
47 |
62 |
N/A |
INTRINSIC |
coiled coil region
|
98 |
271 |
N/A |
INTRINSIC |
coiled coil region
|
302 |
352 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107104
|
SMART Domains |
Protein: ENSMUSP00000102721 Gene: ENSMUSG00000028576
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
low complexity region
|
47 |
62 |
N/A |
INTRINSIC |
coiled coil region
|
98 |
271 |
N/A |
INTRINSIC |
coiled coil region
|
302 |
352 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9498 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
98% (54/55) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy. [provided by MGI curators]
|
Allele List at MGI |
All alleles(23) : Targeted(2) Gene trapped(21)
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
G |
A |
17: 24,508,511 (GRCm39) |
A1008V |
probably damaging |
Het |
Adora3 |
A |
G |
3: 105,812,231 (GRCm39) |
K39R |
probably benign |
Het |
Ankib1 |
A |
G |
5: 3,742,760 (GRCm39) |
V1085A |
probably damaging |
Het |
Atp7a |
G |
A |
X: 105,138,463 (GRCm39) |
R563K |
probably benign |
Het |
Azin1 |
T |
C |
15: 38,493,820 (GRCm39) |
I268V |
probably benign |
Het |
Carm1 |
T |
C |
9: 21,480,769 (GRCm39) |
F81S |
probably damaging |
Het |
Ccnjl |
A |
G |
11: 43,470,688 (GRCm39) |
Y152C |
probably damaging |
Het |
Chrna3 |
T |
A |
9: 54,931,610 (GRCm39) |
I61F |
possibly damaging |
Het |
Clca3a2 |
G |
A |
3: 144,514,522 (GRCm39) |
|
probably benign |
Het |
Clstn2 |
T |
A |
9: 97,336,768 (GRCm39) |
D903V |
probably benign |
Het |
Dpysl3 |
C |
T |
18: 43,494,126 (GRCm39) |
V70I |
probably benign |
Het |
Drg2 |
A |
T |
11: 60,352,218 (GRCm39) |
K180* |
probably null |
Het |
Dync2h1 |
A |
C |
9: 7,011,236 (GRCm39) |
H3659Q |
probably benign |
Het |
Dysf |
A |
T |
6: 84,047,870 (GRCm39) |
Y349F |
probably benign |
Het |
Epb41l4b |
T |
C |
4: 57,040,865 (GRCm39) |
N533D |
probably benign |
Het |
Fam47e |
T |
A |
5: 92,733,221 (GRCm39) |
V152D |
probably damaging |
Het |
Fasn |
G |
A |
11: 120,713,599 (GRCm39) |
A24V |
probably damaging |
Het |
Fhl4 |
T |
C |
10: 84,934,308 (GRCm39) |
T158A |
probably benign |
Het |
Fnbp1l |
C |
T |
3: 122,339,955 (GRCm39) |
R499Q |
probably damaging |
Het |
Hdlbp |
A |
T |
1: 93,355,883 (GRCm39) |
M358K |
probably benign |
Het |
Lhx4 |
A |
G |
1: 155,578,147 (GRCm39) |
Y332H |
probably damaging |
Het |
Mast2 |
A |
T |
4: 116,165,292 (GRCm39) |
S1314T |
probably benign |
Het |
Mast4 |
A |
G |
13: 102,923,887 (GRCm39) |
I508T |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,733,726 (GRCm39) |
|
probably null |
Het |
Mrps23 |
A |
G |
11: 88,100,940 (GRCm39) |
K44E |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mup6 |
G |
T |
4: 60,004,116 (GRCm39) |
|
probably null |
Het |
Notch3 |
A |
T |
17: 32,377,592 (GRCm39) |
D161E |
possibly damaging |
Het |
Or2ag13 |
A |
T |
7: 106,472,976 (GRCm39) |
Y159N |
probably benign |
Het |
Or4a67 |
T |
C |
2: 88,598,413 (GRCm39) |
D82G |
probably damaging |
Het |
Or5w11 |
T |
C |
2: 87,459,418 (GRCm39) |
F204L |
probably benign |
Het |
P2rx4 |
T |
A |
5: 122,863,133 (GRCm39) |
I202K |
probably damaging |
Het |
Phykpl |
A |
G |
11: 51,489,482 (GRCm39) |
T363A |
probably benign |
Het |
Pitpnm1 |
G |
A |
19: 4,162,234 (GRCm39) |
A1047T |
probably damaging |
Het |
Ppat |
A |
G |
5: 77,065,912 (GRCm39) |
I402T |
probably damaging |
Het |
Rpgr |
A |
G |
X: 10,042,841 (GRCm39) |
S656P |
probably benign |
Het |
Rsbn1l |
T |
C |
5: 21,110,928 (GRCm39) |
|
probably benign |
Het |
Sacs |
A |
G |
14: 61,449,752 (GRCm39) |
K3933E |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,505,847 (GRCm39) |
I1681V |
probably benign |
Het |
Sel1l3 |
T |
C |
5: 53,274,432 (GRCm39) |
D1016G |
probably benign |
Het |
Sf3a3 |
C |
A |
4: 124,618,870 (GRCm39) |
T277N |
possibly damaging |
Het |
Slc35a5 |
A |
G |
16: 44,964,396 (GRCm39) |
I279T |
probably benign |
Het |
Slc39a10 |
T |
C |
1: 46,874,877 (GRCm39) |
T142A |
probably benign |
Het |
Tle3 |
T |
A |
9: 61,321,376 (GRCm39) |
|
probably null |
Het |
Tmem117 |
T |
C |
15: 94,992,573 (GRCm39) |
I411T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,698,721 (GRCm39) |
T5A |
possibly damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,708,381 (GRCm39) |
|
probably null |
Het |
Ush2a |
C |
T |
1: 188,465,955 (GRCm39) |
P2841L |
probably damaging |
Het |
Vmn1r209 |
A |
T |
13: 22,990,267 (GRCm39) |
M141K |
probably benign |
Het |
Vmn2r91 |
A |
T |
17: 18,330,370 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ift74 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00944:Ift74
|
APN |
4 |
94,581,259 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01534:Ift74
|
APN |
4 |
94,568,181 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01701:Ift74
|
APN |
4 |
94,550,895 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02155:Ift74
|
APN |
4 |
94,567,488 (GRCm39) |
missense |
probably benign |
|
IGL02455:Ift74
|
APN |
4 |
94,524,068 (GRCm39) |
nonsense |
probably null |
|
IGL02877:Ift74
|
APN |
4 |
94,513,018 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03389:Ift74
|
APN |
4 |
94,510,149 (GRCm39) |
missense |
possibly damaging |
0.57 |
P0005:Ift74
|
UTSW |
4 |
94,550,813 (GRCm39) |
splice site |
probably benign |
|
PIT4243001:Ift74
|
UTSW |
4 |
94,575,141 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0211:Ift74
|
UTSW |
4 |
94,567,492 (GRCm39) |
missense |
probably benign |
0.05 |
R0211:Ift74
|
UTSW |
4 |
94,567,492 (GRCm39) |
missense |
probably benign |
0.05 |
R1019:Ift74
|
UTSW |
4 |
94,524,072 (GRCm39) |
missense |
probably benign |
0.20 |
R1240:Ift74
|
UTSW |
4 |
94,581,174 (GRCm39) |
splice site |
probably null |
|
R1699:Ift74
|
UTSW |
4 |
94,573,940 (GRCm39) |
missense |
probably benign |
0.09 |
R1937:Ift74
|
UTSW |
4 |
94,550,883 (GRCm39) |
missense |
probably benign |
0.10 |
R2114:Ift74
|
UTSW |
4 |
94,515,496 (GRCm39) |
missense |
probably benign |
0.00 |
R2116:Ift74
|
UTSW |
4 |
94,515,496 (GRCm39) |
missense |
probably benign |
0.00 |
R2117:Ift74
|
UTSW |
4 |
94,515,496 (GRCm39) |
missense |
probably benign |
0.00 |
R2181:Ift74
|
UTSW |
4 |
94,520,951 (GRCm39) |
missense |
probably damaging |
0.98 |
R2680:Ift74
|
UTSW |
4 |
94,541,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R3435:Ift74
|
UTSW |
4 |
94,510,089 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4080:Ift74
|
UTSW |
4 |
94,541,149 (GRCm39) |
splice site |
probably null |
|
R4379:Ift74
|
UTSW |
4 |
94,568,171 (GRCm39) |
missense |
probably benign |
0.00 |
R4777:Ift74
|
UTSW |
4 |
94,541,234 (GRCm39) |
missense |
probably benign |
0.00 |
R5197:Ift74
|
UTSW |
4 |
94,550,833 (GRCm39) |
missense |
probably benign |
0.00 |
R5934:Ift74
|
UTSW |
4 |
94,520,971 (GRCm39) |
missense |
probably benign |
|
R5994:Ift74
|
UTSW |
4 |
94,579,961 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6639:Ift74
|
UTSW |
4 |
94,552,496 (GRCm39) |
intron |
probably benign |
|
R6781:Ift74
|
UTSW |
4 |
94,515,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R7156:Ift74
|
UTSW |
4 |
94,549,189 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7239:Ift74
|
UTSW |
4 |
94,541,187 (GRCm39) |
missense |
probably benign |
0.00 |
R7899:Ift74
|
UTSW |
4 |
94,510,214 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8814:Ift74
|
UTSW |
4 |
94,550,873 (GRCm39) |
nonsense |
probably null |
|
R8944:Ift74
|
UTSW |
4 |
94,510,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R9029:Ift74
|
UTSW |
4 |
94,506,271 (GRCm39) |
missense |
probably benign |
0.11 |
R9112:Ift74
|
UTSW |
4 |
94,575,103 (GRCm39) |
missense |
probably benign |
0.00 |
R9615:Ift74
|
UTSW |
4 |
94,550,822 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTCGAAACACTAGATTCTGTAAAAGAG -3'
(R):5'- AGGATGTGCTATAACAGTTTTGGAAC -3'
Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- CAGGACGATCAGCAACTT -3'
|
Posted On |
2015-02-18 |