Incidental Mutation 'R2181:Ift74'
| ID |
237178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift74
|
| Ensembl Gene |
ENSMUSG00000028576 |
| Gene Name |
intraflagellar transport 74 |
| Synonyms |
Cmg1, Ccdc2, 1700029H06Rik, b2b796Clo |
| MMRRC Submission |
040183-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2181 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
94502728-94581466 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94520951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 168
(E168G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030311]
[ENSMUST00000053419]
[ENSMUST00000107101]
[ENSMUST00000107104]
|
| AlphaFold |
Q8BKE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030311
AA Change: E168G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576
AA Change: E168G
| 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 damaging
Transcript: ENSMUST00000107104
AA Change: E168G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102721
Gene: ENSMUSG00000028576
AA Change: E168G
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
C |
T |
16: 3,724,950 (GRCm39) |
S43N |
possibly damaging |
Het |
| Abcb5 |
T |
G |
12: 118,831,681 (GRCm39) |
I1224L |
possibly damaging |
Het |
| Adgra2 |
G |
A |
8: 27,611,701 (GRCm39) |
G1002S |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,203,112 (GRCm39) |
T114A |
probably damaging |
Het |
| Colec12 |
T |
A |
18: 9,846,828 (GRCm39) |
S75T |
probably damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,597,541 (GRCm39) |
C486R |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,683,765 (GRCm39) |
L581Q |
probably damaging |
Het |
| Faxc |
T |
A |
4: 21,931,591 (GRCm39) |
S10T |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,482,008 (GRCm39) |
I1893T |
possibly damaging |
Het |
| Gabrr3 |
T |
A |
16: 59,268,372 (GRCm39) |
D328E |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,249,791 (GRCm39) |
I421V |
possibly damaging |
Het |
| Gorasp1 |
A |
G |
9: 119,757,422 (GRCm39) |
S317P |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,801,736 (GRCm39) |
S113P |
probably damaging |
Het |
| Kdm6b |
A |
T |
11: 69,291,952 (GRCm39) |
Y1443* |
probably null |
Het |
| Mmp28 |
A |
C |
11: 83,333,543 (GRCm39) |
V466G |
possibly damaging |
Het |
| Nbea |
A |
T |
3: 55,937,360 (GRCm39) |
S750R |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Nelfa |
T |
C |
5: 34,057,853 (GRCm39) |
N314D |
probably benign |
Het |
| Numbl |
T |
A |
7: 26,968,346 (GRCm39) |
|
probably null |
Het |
| Or13c25 |
T |
A |
4: 52,911,524 (GRCm39) |
K90M |
probably damaging |
Het |
| Or1j17 |
G |
A |
2: 36,578,346 (GRCm39) |
D111N |
probably damaging |
Het |
| Or2p2 |
G |
T |
13: 21,257,394 (GRCm39) |
P26T |
probably damaging |
Het |
| Or52e5 |
T |
C |
7: 104,719,418 (GRCm39) |
V248A |
possibly damaging |
Het |
| Or5b113 |
G |
T |
19: 13,342,438 (GRCm39) |
V149F |
probably benign |
Het |
| Penk |
T |
C |
4: 4,134,041 (GRCm39) |
|
probably null |
Het |
| Pglyrp2 |
A |
G |
17: 32,637,936 (GRCm39) |
S31P |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,484,366 (GRCm39) |
S538P |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,433,815 (GRCm39) |
T252A |
possibly damaging |
Het |
| Ppp2r5e |
T |
C |
12: 75,509,098 (GRCm39) |
I394V |
probably benign |
Het |
| Sh3rf1 |
G |
T |
8: 61,816,272 (GRCm39) |
V510F |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,640,651 (GRCm39) |
H677R |
possibly damaging |
Het |
| Stam2 |
A |
T |
2: 52,593,156 (GRCm39) |
H345Q |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,284,835 (GRCm39) |
N600S |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,952,279 (GRCm39) |
|
probably null |
Het |
| Vmn1r72 |
A |
T |
7: 11,403,595 (GRCm39) |
C284* |
probably null |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,743 (GRCm39) |
I745V |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,468,392 (GRCm39) |
D2850A |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,005,671 (GRCm39) |
W36R |
probably damaging |
Het |
| Zfp804b |
G |
A |
5: 6,821,674 (GRCm39) |
T463I |
probably damaging |
Het |
| Zfp811 |
T |
G |
17: 33,016,695 (GRCm39) |
K448N |
probably damaging |
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 |
|
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'- GACAGTCTCTGATTACTTCTCACTTT -3'
(R):5'- TGAAGGGTGCAGAATAATAATTGTG -3'
Sequencing Primer
(F):5'- TATGTGGAAGGAAGTGACT -3'
(R):5'- TCAGAGTGACACTGCCTA -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation