Incidental Mutation 'R3434:Ift74'
| ID |
266336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift74
|
| Ensembl Gene |
ENSMUSG00000028576 |
| Gene Name |
intraflagellar transport 74 |
| Synonyms |
Cmg1, 1700029H06Rik, Ccdc2, b2b796Clo |
| MMRRC Submission |
040652-MU
|
| Accession Numbers |
NCBI RefSeq: NM_026319.2; MGI: 1914944
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3434 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
94614491-94693229 bp(+) (GRCm38) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 94621852 bp (GRCm38)
|
| 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: 24,289,537 (GRCm38) |
A1008V |
probably damaging |
Het |
| Adora3 |
A |
G |
3: 105,904,915 (GRCm38) |
K39R |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,692,760 (GRCm38) |
V1085A |
probably damaging |
Het |
| Atp7a |
G |
A |
X: 106,094,857 (GRCm38) |
R563K |
probably benign |
Het |
| Azin1 |
T |
C |
15: 38,493,576 (GRCm38) |
I268V |
probably benign |
Het |
| Carm1 |
T |
C |
9: 21,569,473 (GRCm38) |
F81S |
probably damaging |
Het |
| Ccnjl |
A |
G |
11: 43,579,861 (GRCm38) |
Y152C |
probably damaging |
Het |
| Chrna3 |
T |
A |
9: 55,024,326 (GRCm38) |
I61F |
possibly damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,808,761 (GRCm38) |
|
probably benign |
Het |
| Clstn2 |
T |
A |
9: 97,454,715 (GRCm38) |
D903V |
probably benign |
Het |
| Dpysl3 |
C |
T |
18: 43,361,061 (GRCm38) |
V70I |
probably benign |
Het |
| Drg2 |
A |
T |
11: 60,461,392 (GRCm38) |
K180* |
probably null |
Het |
| Dync2h1 |
A |
C |
9: 7,011,236 (GRCm38) |
H3659Q |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,070,888 (GRCm38) |
Y349F |
probably benign |
Het |
| Epb41l4b |
T |
C |
4: 57,040,865 (GRCm38) |
N533D |
probably benign |
Het |
| Fam47e |
T |
A |
5: 92,585,362 (GRCm38) |
V152D |
probably damaging |
Het |
| Fasn |
G |
A |
11: 120,822,773 (GRCm38) |
A24V |
probably damaging |
Het |
| Fhl4 |
T |
C |
10: 85,098,444 (GRCm38) |
T158A |
probably benign |
Het |
| Fnbp1l |
C |
T |
3: 122,546,306 (GRCm38) |
R499Q |
probably damaging |
Het |
| Hdlbp |
A |
T |
1: 93,428,161 (GRCm38) |
M358K |
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,702,401 (GRCm38) |
Y332H |
probably damaging |
Het |
| Mast2 |
A |
T |
4: 116,308,095 (GRCm38) |
S1314T |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,787,379 (GRCm38) |
I508T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,733,726 (GRCm38) |
|
probably null |
Het |
| Mrps23 |
A |
G |
11: 88,210,114 (GRCm38) |
K44E |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,742,934 (GRCm38) |
V128M |
probably damaging |
Het |
| Mup6 |
G |
T |
4: 60,004,116 (GRCm38) |
|
probably null |
Het |
| Notch3 |
A |
T |
17: 32,158,618 (GRCm38) |
D161E |
possibly damaging |
Het |
| Olfr1131 |
T |
C |
2: 87,629,074 (GRCm38) |
F204L |
probably benign |
Het |
| Olfr1200 |
T |
C |
2: 88,768,069 (GRCm38) |
D82G |
probably damaging |
Het |
| Olfr695 |
A |
T |
7: 106,873,769 (GRCm38) |
Y159N |
probably benign |
Het |
| P2rx4 |
T |
A |
5: 122,725,070 (GRCm38) |
I202K |
probably damaging |
Het |
| Phykpl |
A |
G |
11: 51,598,655 (GRCm38) |
T363A |
probably benign |
Het |
| Pitpnm1 |
G |
A |
19: 4,112,234 (GRCm38) |
A1047T |
probably damaging |
Het |
| Ppat |
A |
G |
5: 76,918,065 (GRCm38) |
I402T |
probably damaging |
Het |
| Rpgr |
A |
G |
X: 10,176,602 (GRCm38) |
S656P |
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 20,905,930 (GRCm38) |
|
probably benign |
Het |
| Sacs |
A |
G |
14: 61,212,303 (GRCm38) |
K3933E |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,675,503 (GRCm38) |
I1681V |
probably benign |
Het |
| Sel1l3 |
T |
C |
5: 53,117,090 (GRCm38) |
D1016G |
probably benign |
Het |
| Sf3a3 |
C |
A |
4: 124,725,077 (GRCm38) |
T277N |
possibly damaging |
Het |
| Slc35a5 |
A |
G |
16: 45,144,033 (GRCm38) |
I279T |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,835,717 (GRCm38) |
T142A |
probably benign |
Het |
| Tle3 |
T |
A |
9: 61,414,094 (GRCm38) |
|
probably null |
Het |
| Tmem117 |
T |
C |
15: 95,094,692 (GRCm38) |
I411T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,868,377 (GRCm38) |
T5A |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,658,381 (GRCm38) |
|
probably null |
Het |
| Ush2a |
C |
T |
1: 188,733,758 (GRCm38) |
P2841L |
probably damaging |
Het |
| Vmn1r209 |
A |
T |
13: 22,806,097 (GRCm38) |
M141K |
probably benign |
Het |
| Vmn2r91 |
A |
T |
17: 18,110,108 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Ift74 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Ift74
|
APN |
4 |
94,693,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01534:Ift74
|
APN |
4 |
94,679,944 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01701:Ift74
|
APN |
4 |
94,662,658 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02155:Ift74
|
APN |
4 |
94,679,251 (GRCm38) |
missense |
probably benign |
|
|
IGL02455:Ift74
|
APN |
4 |
94,635,831 (GRCm38) |
nonsense |
probably null |
|
|
IGL02877:Ift74
|
APN |
4 |
94,624,781 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03389:Ift74
|
APN |
4 |
94,621,912 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
P0005:Ift74
|
UTSW |
4 |
94,662,576 (GRCm38) |
splice site |
probably benign |
|
|
PIT4243001:Ift74
|
UTSW |
4 |
94,686,904 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0211:Ift74
|
UTSW |
4 |
94,679,255 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0211:Ift74
|
UTSW |
4 |
94,679,255 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1019:Ift74
|
UTSW |
4 |
94,635,835 (GRCm38) |
missense |
probably benign |
0.20 |
|
R1240:Ift74
|
UTSW |
4 |
94,692,937 (GRCm38) |
splice site |
probably null |
|
|
R1699:Ift74
|
UTSW |
4 |
94,685,703 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1937:Ift74
|
UTSW |
4 |
94,662,646 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2114:Ift74
|
UTSW |
4 |
94,627,259 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2116:Ift74
|
UTSW |
4 |
94,627,259 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2117:Ift74
|
UTSW |
4 |
94,627,259 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2181:Ift74
|
UTSW |
4 |
94,632,714 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2680:Ift74
|
UTSW |
4 |
94,653,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3435:Ift74
|
UTSW |
4 |
94,621,852 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4080:Ift74
|
UTSW |
4 |
94,652,912 (GRCm38) |
splice site |
probably null |
|
|
R4379:Ift74
|
UTSW |
4 |
94,679,934 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4777:Ift74
|
UTSW |
4 |
94,652,997 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5197:Ift74
|
UTSW |
4 |
94,662,596 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5934:Ift74
|
UTSW |
4 |
94,632,734 (GRCm38) |
missense |
probably benign |
|
|
R5994:Ift74
|
UTSW |
4 |
94,691,724 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6639:Ift74
|
UTSW |
4 |
94,664,259 (GRCm38) |
intron |
probably benign |
|
|
R6781:Ift74
|
UTSW |
4 |
94,627,302 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7156:Ift74
|
UTSW |
4 |
94,660,952 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7239:Ift74
|
UTSW |
4 |
94,652,950 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7899:Ift74
|
UTSW |
4 |
94,621,977 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R8814:Ift74
|
UTSW |
4 |
94,662,636 (GRCm38) |
nonsense |
probably null |
|
|
R8944:Ift74
|
UTSW |
4 |
94,621,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9029:Ift74
|
UTSW |
4 |
94,618,034 (GRCm38) |
missense |
probably benign |
0.11 |
|
R9112:Ift74
|
UTSW |
4 |
94,686,866 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9615:Ift74
|
UTSW |
4 |
94,662,585 (GRCm38) |
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 |
Incidental Mutation