Incidental Mutation 'R4379:Ift74'
ID |
377759 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift74
|
Ensembl Gene |
ENSMUSG00000028576 |
Gene Name |
intraflagellar transport 74 |
Synonyms |
Cmg1, Ccdc2, 1700029H06Rik, b2b796Clo |
MMRRC Submission |
041677-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4379 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
94502728-94581466 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94568171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 403
(N403D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030311
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030311]
|
AlphaFold |
Q8BKE9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030311
AA Change: N403D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000030311 Gene: ENSMUSG00000028576 AA Change: N403D
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 |
noncoding transcript
Transcript: ENSMUST00000152289
|
Meta Mutation Damage Score |
0.1542 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
95% (53/56) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
C |
A |
5: 8,915,875 (GRCm39) |
H1252Q |
probably benign |
Het |
Adcy3 |
T |
C |
12: 4,184,558 (GRCm39) |
L78P |
probably damaging |
Het |
Agmat |
G |
T |
4: 141,484,802 (GRCm39) |
A282S |
probably benign |
Het |
Akap8 |
G |
T |
17: 32,525,534 (GRCm39) |
T515K |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,540,488 (GRCm39) |
|
probably benign |
Het |
Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
AW209491 |
T |
C |
13: 14,812,412 (GRCm39) |
*422Q |
probably null |
Het |
Cdan1 |
A |
G |
2: 120,557,099 (GRCm39) |
F576L |
probably damaging |
Het |
Cers5 |
A |
G |
15: 99,649,134 (GRCm39) |
F45L |
probably damaging |
Het |
Dst |
A |
G |
1: 34,267,056 (GRCm39) |
I5011V |
probably benign |
Het |
Dst |
T |
C |
1: 34,202,316 (GRCm39) |
S215P |
probably damaging |
Het |
En1 |
A |
G |
1: 120,531,084 (GRCm39) |
N108S |
possibly damaging |
Het |
Entrep3 |
A |
T |
3: 89,093,064 (GRCm39) |
D274V |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,538,677 (GRCm39) |
S591P |
probably benign |
Het |
Glt1d1 |
T |
C |
5: 127,771,346 (GRCm39) |
V279A |
possibly damaging |
Het |
Gm10051 |
C |
T |
5: 133,504,287 (GRCm39) |
|
noncoding transcript |
Het |
Gpr158 |
G |
T |
2: 21,830,025 (GRCm39) |
G690V |
probably damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Grm7 |
T |
A |
6: 111,223,335 (GRCm39) |
N458K |
probably benign |
Het |
Hibadh |
G |
A |
6: 52,597,027 (GRCm39) |
S139L |
probably damaging |
Het |
Hivep1 |
C |
T |
13: 42,308,906 (GRCm39) |
S382F |
probably damaging |
Het |
Igkv4-81 |
A |
G |
6: 68,967,933 (GRCm39) |
L56S |
probably damaging |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lmbr1l |
G |
T |
15: 98,807,144 (GRCm39) |
C212* |
probably null |
Het |
Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
Lrrc34 |
A |
G |
3: 30,685,524 (GRCm39) |
L275P |
probably damaging |
Het |
Mgam2-ps |
T |
C |
6: 40,810,793 (GRCm39) |
|
noncoding transcript |
Het |
Mief1 |
T |
G |
15: 80,132,160 (GRCm39) |
M77R |
possibly damaging |
Het |
Neurod6 |
T |
C |
6: 55,656,257 (GRCm39) |
T127A |
probably damaging |
Het |
Nif3l1 |
A |
C |
1: 58,494,738 (GRCm39) |
|
probably benign |
Het |
Nlrp12 |
T |
A |
7: 3,288,554 (GRCm39) |
T653S |
probably benign |
Het |
Nol7 |
G |
T |
13: 43,555,051 (GRCm39) |
W228L |
probably damaging |
Het |
Nrp1 |
G |
A |
8: 129,194,948 (GRCm39) |
R468H |
probably damaging |
Het |
Or5ac15 |
C |
T |
16: 58,940,027 (GRCm39) |
M135I |
probably benign |
Het |
Or7g34 |
A |
G |
9: 19,478,038 (GRCm39) |
L211P |
probably benign |
Het |
Pbrm1 |
A |
T |
14: 30,789,663 (GRCm39) |
H785L |
probably damaging |
Het |
Pus7 |
T |
C |
5: 23,953,864 (GRCm39) |
|
probably benign |
Het |
Qser1 |
G |
T |
2: 104,596,404 (GRCm39) |
|
probably null |
Het |
Rrm1 |
T |
C |
7: 102,095,800 (GRCm39) |
V51A |
probably damaging |
Het |
Setbp1 |
T |
C |
18: 79,129,896 (GRCm39) |
N112S |
probably damaging |
Het |
Svil |
C |
T |
18: 5,046,909 (GRCm39) |
H52Y |
probably damaging |
Het |
Taf1d |
T |
A |
9: 15,223,277 (GRCm39) |
|
probably benign |
Het |
Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
Treml1 |
A |
G |
17: 48,667,424 (GRCm39) |
Y103C |
probably damaging |
Het |
Trim28 |
A |
T |
7: 12,763,407 (GRCm39) |
D516V |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,334,499 (GRCm39) |
N1164K |
possibly damaging |
Het |
Vmn2r115 |
A |
G |
17: 23,564,197 (GRCm39) |
Y123C |
possibly damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Zfp28 |
C |
T |
7: 6,396,441 (GRCm39) |
T292I |
probably benign |
Het |
Zmynd8 |
A |
T |
2: 165,649,858 (GRCm39) |
|
probably null |
Het |
Zscan4d |
A |
G |
7: 10,898,905 (GRCm39) |
V124A |
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 |
R3434:Ift74
|
UTSW |
4 |
94,510,089 (GRCm39) |
critical splice acceptor site |
probably null |
|
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 |
|
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'- TCTCAGATTCTGTAGGTAATCTGTC -3'
(R):5'- ATGATGGGGTAACAGGCACC -3'
Sequencing Primer
(F):5'- TGAAGCCTACTGCATCCT -3'
(R):5'- GGTAACAGGCACCCATCAATTAG -3'
|
Posted On |
2016-04-01 |