Incidental Mutation 'R1019:Ift74'
| ID |
96719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift74
|
| Ensembl Gene |
ENSMUSG00000028576 |
| Gene Name |
intraflagellar transport 74 |
| Synonyms |
Cmg1, Ccdc2, 1700029H06Rik, b2b796Clo |
| MMRRC Submission |
039123-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1019 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
94502728-94581466 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 94524072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 196
(A196V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030311]
[ENSMUST00000053419]
[ENSMUST00000107101]
[ENSMUST00000107104]
|
| AlphaFold |
Q8BKE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030311
AA Change: A196V
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576
AA Change: A196V
| 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 benign
Transcript: ENSMUST00000053419
|
| SMART Domains |
Protein: ENSMUSP00000056094
Gene: ENSMUSG00000049799
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
69 |
93 |
3.36e2 |
SMART |
|
LRR
|
94 |
117 |
4.32e0 |
SMART |
|
LRR
|
118 |
141 |
1.71e1 |
SMART |
|
LRR
|
142 |
166 |
1.09e2 |
SMART |
|
LRRCT
|
174 |
225 |
1.24e-6 |
SMART |
|
Pfam:LRR19-TM
|
250 |
364 |
8.1e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107101
|
| SMART Domains |
Protein: ENSMUSP00000102718
Gene: ENSMUSG00000049799
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
69 |
93 |
3.36e2 |
SMART |
|
LRR
|
94 |
117 |
4.32e0 |
SMART |
|
LRR
|
118 |
141 |
1.71e1 |
SMART |
|
LRR
|
142 |
166 |
1.09e2 |
SMART |
|
LRRCT
|
174 |
225 |
1.24e-6 |
SMART |
|
Pfam:LRR19-TM
|
245 |
364 |
9.3e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107104
AA Change: A196V
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102721
Gene: ENSMUSG00000028576
AA Change: A196V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
C |
8: 120,872,209 (GRCm39) |
E46Q |
probably damaging |
Het |
| 9130401M01Rik |
A |
G |
15: 57,885,823 (GRCm39) |
I353T |
possibly damaging |
Het |
| A830031A19Rik |
G |
A |
11: 23,999,438 (GRCm39) |
R53C |
unknown |
Het |
| Abcc6 |
T |
C |
7: 45,663,531 (GRCm39) |
R378G |
possibly damaging |
Het |
| Adam10 |
A |
G |
9: 70,668,922 (GRCm39) |
N413D |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,415,807 (GRCm39) |
V2712A |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,358,378 (GRCm39) |
F3289S |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,795,440 (GRCm39) |
S2330P |
probably damaging |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,708,257 (GRCm39) |
C252* |
probably null |
Het |
| Mrgpra1 |
C |
G |
7: 46,984,833 (GRCm39) |
C282S |
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,346,799 (GRCm39) |
L765Q |
probably damaging |
Het |
| Or13a26 |
C |
T |
7: 140,284,407 (GRCm39) |
P81L |
probably damaging |
Het |
| Or1l8 |
A |
G |
2: 36,817,764 (GRCm39) |
F121L |
probably benign |
Het |
| Otof |
C |
A |
5: 30,528,087 (GRCm39) |
V1924L |
probably damaging |
Het |
| Pdhb |
T |
C |
14: 8,171,442 (GRCm38) |
Q62R |
probably benign |
Het |
| Plbd1 |
A |
G |
6: 136,628,903 (GRCm39) |
V55A |
probably benign |
Het |
| Poteg |
T |
A |
8: 27,937,852 (GRCm39) |
F3I |
possibly damaging |
Het |
| Rptor |
A |
G |
11: 119,734,569 (GRCm39) |
D46G |
probably damaging |
Het |
| Slc18a1 |
C |
T |
8: 69,527,685 (GRCm39) |
|
probably null |
Het |
| Slc37a1 |
A |
G |
17: 31,534,568 (GRCm39) |
N80S |
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,825,998 (GRCm39) |
R17S |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,850,182 (GRCm39) |
S649P |
probably benign |
Het |
| Syngr3 |
G |
T |
17: 24,906,534 (GRCm39) |
Q94K |
possibly damaging |
Het |
| Tgm2 |
C |
A |
2: 157,966,074 (GRCm39) |
E527* |
probably null |
Het |
| Tnc |
T |
A |
4: 63,880,319 (GRCm39) |
T1952S |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,593 (GRCm39) |
R499Q |
probably benign |
Het |
| Uck1 |
A |
G |
2: 32,146,205 (GRCm39) |
V230A |
possibly damaging |
Het |
| Unc13d |
G |
A |
11: 115,958,900 (GRCm39) |
R754C |
probably benign |
Het |
| Zfp708 |
C |
T |
13: 67,222,162 (GRCm39) |
A73T |
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 |
|
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 |
|
|
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'- agccatctctttagcccTTAACCAAGTA -3'
(R):5'- GCTCATCAAGGACAATGTACAAAGCCTA -3'
Sequencing Primer
(F):5'- tttagcccTTAACCAAGTATTTAGTG -3'
(R):5'- cagcacccacatggcag -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation