Incidental Mutation 'R8814:Ift74'
| ID |
672596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ift74
|
| Ensembl Gene |
ENSMUSG00000028576 |
| Gene Name |
intraflagellar transport 74 |
| Synonyms |
Cmg1, 1700029H06Rik, Ccdc2, b2b796Clo |
| MMRRC Submission |
068649-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8814 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
94614491-94693229 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 94662636 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 342
(Q342*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030311]
[ENSMUST00000107104]
|
| AlphaFold |
Q8BKE9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030311
AA Change: Q342*
|
| SMART Domains |
Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576
AA Change: Q342*
| 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
AA Change: Q342*
|
| SMART Domains |
Protein: ENSMUSP00000102721
Gene: ENSMUSG00000028576
AA Change: Q342*
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| 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 |
|---|
| Brd7 |
A |
G |
8: 88,345,154 (GRCm38) |
V361A |
probably benign |
Het |
| C6 |
A |
T |
15: 4,792,784 (GRCm38) |
Q595L |
probably benign |
Het |
| Cacna2d3 |
T |
A |
14: 29,097,815 (GRCm38) |
Y532F |
probably damaging |
Het |
| Cep85l |
A |
T |
10: 53,348,969 (GRCm38) |
Y175N |
probably benign |
Het |
| Clca3a2 |
G |
T |
3: 144,797,764 (GRCm38) |
N808K |
probably benign |
Het |
| Clec2m |
T |
C |
6: 129,325,604 (GRCm38) |
|
probably benign |
Het |
| Cpsf4 |
T |
G |
5: 145,178,868 (GRCm38) |
S201R |
probably benign |
Het |
| Crispld2 |
A |
G |
8: 120,015,345 (GRCm38) |
H144R |
possibly damaging |
Het |
| Cyp1b1 |
T |
C |
17: 79,713,359 (GRCm38) |
E318G |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 156,052,243 (GRCm38) |
F47L |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,927,409 (GRCm38) |
D1873G |
probably damaging |
Het |
| Gm47995 |
A |
G |
1: 151,198,988 (GRCm38) |
M181V |
probably benign |
Het |
| Hace1 |
A |
G |
10: 45,652,701 (GRCm38) |
Y346C |
probably damaging |
Het |
| Hemgn |
G |
T |
4: 46,400,717 (GRCm38) |
Q48K |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 80,051,472 (GRCm38) |
D143G |
probably damaging |
Het |
| Kng2 |
A |
T |
16: 23,004,011 (GRCm38) |
I197N |
probably benign |
Het |
| Lcat |
G |
A |
8: 105,941,970 (GRCm38) |
P167S |
probably damaging |
Het |
| Lmntd2 |
G |
A |
7: 141,210,084 (GRCm38) |
R672W |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,941,625 (GRCm38) |
L1037F |
possibly damaging |
Het |
| Msh4 |
A |
G |
3: 153,872,320 (GRCm38) |
S640P |
probably damaging |
Het |
| Mtcl2 |
C |
T |
2: 157,030,531 (GRCm38) |
W965* |
probably null |
Het |
| Mterf1b |
T |
C |
5: 4,197,456 (GRCm38) |
S366P |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,630,101 (GRCm38) |
C643S |
probably damaging |
Het |
| Olfr709-ps1 |
T |
A |
7: 106,926,818 (GRCm38) |
I214F |
probably damaging |
Het |
| Or1s2 |
T |
A |
19: 13,781,533 (GRCm38) |
I305N |
possibly damaging |
Het |
| Or52s6 |
A |
G |
7: 103,442,913 (GRCm38) |
V70A |
probably benign |
Het |
| Or5d37 |
T |
A |
2: 88,092,971 (GRCm38) |
I322F |
probably benign |
Het |
| Or5p61 |
T |
A |
7: 108,159,065 (GRCm38) |
K269N |
probably benign |
Het |
| Pask |
C |
A |
1: 93,320,585 (GRCm38) |
R998L |
probably benign |
Het |
| Pcdh8 |
A |
G |
14: 79,768,897 (GRCm38) |
L742P |
probably benign |
Het |
| Pheta1 |
G |
T |
5: 121,853,045 (GRCm38) |
V157L |
probably benign |
Het |
| Psma3 |
A |
G |
12: 70,978,806 (GRCm38) |
E32G |
probably benign |
Het |
| Samd11 |
T |
C |
4: 156,247,884 (GRCm38) |
E500G |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,294,092 (GRCm38) |
D305E |
probably benign |
Het |
| Serpinb6b |
A |
G |
13: 32,978,304 (GRCm38) |
H362R |
possibly damaging |
Het |
| Siglec1 |
G |
A |
2: 131,072,744 (GRCm38) |
T1484M |
probably damaging |
Het |
| Slfn8 |
A |
G |
11: 83,016,679 (GRCm38) |
V346A |
possibly damaging |
Het |
| Slitrk6 |
G |
C |
14: 110,749,938 (GRCm38) |
A779G |
probably benign |
Het |
| Sub1 |
A |
C |
15: 11,984,231 (GRCm38) |
V124G |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 56,196,592 (GRCm38) |
I277T |
possibly damaging |
Het |
| Tln2 |
C |
A |
9: 67,221,411 (GRCm38) |
E1465D |
possibly damaging |
Het |
| Trappc10 |
A |
G |
10: 78,202,919 (GRCm38) |
Y780H |
probably damaging |
Het |
| Trim28 |
T |
A |
7: 13,028,527 (GRCm38) |
N359K |
probably damaging |
Het |
| Tspan15 |
G |
A |
10: 62,188,056 (GRCm38) |
T281M |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,866,398 (GRCm38) |
N396D |
possibly damaging |
Het |
| Vmn1r84 |
A |
G |
7: 12,362,458 (GRCm38) |
S103P |
probably damaging |
Het |
| Vmn2r22 |
C |
G |
6: 123,637,830 (GRCm38) |
R267T |
probably damaging |
Het |
| Vmn2r7 |
A |
G |
3: 64,716,563 (GRCm38) |
I112T |
probably benign |
Het |
| Vmn2r70 |
T |
A |
7: 85,565,961 (GRCm38) |
I122F |
probably benign |
Het |
| Vmn2r79 |
C |
G |
7: 87,002,506 (GRCm38) |
T371S |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,576,650 (GRCm38) |
L1230P |
probably damaging |
Het |
| Zfp26 |
A |
T |
9: 20,438,434 (GRCm38) |
V278D |
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 |
|
R3434:Ift74
|
UTSW |
4 |
94,621,852 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
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 |
|
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'- TTGCTCACCAGACACAAAATTG -3'
(R):5'- ATATTTCAGTTAAGTTGGGCGTATC -3'
Sequencing Primer
(F):5'- TCATCCAAAGGCTGCTAGTG -3'
(R):5'- CAGTTAAGTTGGGCGTATCATAGAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation