Incidental Mutation 'R0440:Wdr59'
| ID |
67031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr59
|
| Ensembl Gene |
ENSMUSG00000031959 |
| Gene Name |
WD repeat domain 59 |
| Synonyms |
5430401O09Rik |
| MMRRC Submission |
038641-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0440 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
112175429-112248724 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
GGGTGGTG to GGGTG
at 112207172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034437]
[ENSMUST00000038193]
[ENSMUST00000211981]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034437
|
| SMART Domains |
Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
41 |
91 |
1.37e2 |
SMART |
|
WD40
|
94 |
134 |
9.52e-6 |
SMART |
|
WD40
|
138 |
176 |
4.46e-1 |
SMART |
|
WD40
|
180 |
220 |
2.59e-7 |
SMART |
|
WD40
|
271 |
315 |
8.59e-1 |
SMART |
|
RWD
|
393 |
494 |
4.13e-14 |
SMART |
|
low complexity region
|
620 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
813 |
N/A |
INTRINSIC |
|
Blast:RING
|
941 |
980 |
3e-10 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038193
|
| SMART Domains |
Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
41 |
91 |
1.37e2 |
SMART |
|
WD40
|
94 |
134 |
9.52e-6 |
SMART |
|
WD40
|
138 |
176 |
4.46e-1 |
SMART |
|
WD40
|
180 |
220 |
2.59e-7 |
SMART |
|
WD40
|
271 |
315 |
8.59e-1 |
SMART |
|
RWD
|
393 |
494 |
4.13e-14 |
SMART |
|
low complexity region
|
803 |
814 |
N/A |
INTRINSIC |
|
Pfam:Zn_ribbon_17
|
937 |
992 |
2e-14 |
PFAM |
|
Pfam:zinc_ribbon_16
|
949 |
990 |
1.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211981
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
G |
A |
15: 83,112,694 (GRCm39) |
R30W |
probably damaging |
Het |
| Adam7 |
T |
C |
14: 68,748,305 (GRCm39) |
|
probably null |
Het |
| Agl |
A |
T |
3: 116,552,455 (GRCm39) |
L1158Q |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,114,569 (GRCm39) |
S66P |
probably damaging |
Het |
| Akr1c20 |
T |
A |
13: 4,537,207 (GRCm39) |
D316V |
probably benign |
Het |
| App |
C |
A |
16: 84,853,302 (GRCm39) |
E259* |
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,784,529 (GRCm39) |
|
probably null |
Het |
| Armc9 |
G |
A |
1: 86,121,984 (GRCm39) |
|
probably null |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Btaf1 |
C |
T |
19: 36,964,053 (GRCm39) |
P875S |
probably damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,483,013 (GRCm39) |
|
probably null |
Het |
| Ccar1 |
C |
T |
10: 62,616,236 (GRCm39) |
V165I |
possibly damaging |
Het |
| Ccdc106 |
A |
T |
7: 5,063,244 (GRCm39) |
I250F |
probably damaging |
Het |
| Ccny |
T |
C |
18: 9,332,917 (GRCm39) |
I205V |
probably benign |
Het |
| Cfap52 |
T |
A |
11: 67,844,914 (GRCm39) |
I52L |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,442,283 (GRCm39) |
T2096S |
possibly damaging |
Het |
| Clstn3 |
G |
A |
6: 124,428,372 (GRCm39) |
T423I |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,703,262 (GRCm39) |
D440G |
possibly damaging |
Het |
| Dclk3 |
G |
A |
9: 111,298,231 (GRCm39) |
V592M |
probably damaging |
Het |
| Ddx31 |
A |
T |
2: 28,747,144 (GRCm39) |
I208F |
probably damaging |
Het |
| Dlat |
A |
T |
9: 50,556,419 (GRCm39) |
|
probably null |
Het |
| Eml4 |
T |
C |
17: 83,753,487 (GRCm39) |
|
probably null |
Het |
| Enpp2 |
T |
A |
15: 54,710,633 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
C |
5: 73,244,315 (GRCm39) |
S38G |
possibly damaging |
Het |
| Gcnt1 |
G |
A |
19: 17,307,680 (GRCm39) |
T15I |
probably benign |
Het |
| Gm21834 |
T |
C |
17: 58,049,121 (GRCm39) |
T32A |
possibly damaging |
Het |
| Golga2 |
A |
G |
2: 32,192,945 (GRCm39) |
D394G |
probably damaging |
Het |
| Gtf3c4 |
G |
T |
2: 28,730,181 (GRCm39) |
|
probably null |
Het |
| Igkv4-69 |
A |
G |
6: 69,261,253 (GRCm39) |
|
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,451,150 (GRCm39) |
R500G |
possibly damaging |
Het |
| Kif5b |
A |
T |
18: 6,226,980 (GRCm39) |
|
probably benign |
Het |
| Klhl36 |
A |
G |
8: 120,603,290 (GRCm39) |
E515G |
probably damaging |
Het |
| Lifr |
C |
T |
15: 7,186,672 (GRCm39) |
R59* |
probably null |
Het |
| Lrif1 |
A |
T |
3: 106,641,714 (GRCm39) |
Q10L |
possibly damaging |
Het |
| Lrp8 |
A |
G |
4: 107,726,295 (GRCm39) |
E908G |
probably damaging |
Het |
| Lrrc23 |
A |
T |
6: 124,747,667 (GRCm39) |
D307E |
probably benign |
Het |
| Mpv17l |
T |
C |
16: 13,762,583 (GRCm39) |
F27L |
probably damaging |
Het |
| Mta3 |
C |
T |
17: 84,074,016 (GRCm39) |
A76V |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,345,771 (GRCm39) |
Y202* |
probably null |
Het |
| Naprt |
A |
G |
15: 75,762,918 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
T |
A |
4: 43,650,315 (GRCm39) |
V960D |
probably damaging |
Het |
| Oca2 |
A |
T |
7: 56,073,100 (GRCm39) |
Y765F |
probably benign |
Het |
| Or2d2 |
A |
T |
7: 106,727,939 (GRCm39) |
H220Q |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,326,712 (GRCm39) |
Y215* |
probably null |
Het |
| Prdm16 |
G |
A |
4: 154,561,084 (GRCm39) |
|
probably benign |
Het |
| Ptn |
A |
G |
6: 36,721,432 (GRCm39) |
S3P |
probably benign |
Het |
| Pus10 |
T |
C |
11: 23,623,331 (GRCm39) |
|
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,831,754 (GRCm39) |
D442E |
probably benign |
Het |
| Rmdn2 |
A |
G |
17: 79,975,384 (GRCm39) |
H291R |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,415,863 (GRCm39) |
S1750P |
probably damaging |
Het |
| Samd4b |
A |
T |
7: 28,107,585 (GRCm39) |
I228N |
probably benign |
Het |
| Sdr9c7 |
G |
T |
10: 127,734,822 (GRCm39) |
|
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,294,001 (GRCm39) |
N254D |
probably benign |
Het |
| Slc16a8 |
T |
A |
15: 79,136,807 (GRCm39) |
I132F |
probably damaging |
Het |
| Slc18b1 |
T |
A |
10: 23,694,976 (GRCm39) |
Y274N |
probably benign |
Het |
| Slc45a2 |
A |
T |
15: 11,000,903 (GRCm39) |
M1L |
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,996,874 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,785,792 (GRCm39) |
S617G |
probably benign |
Het |
| Stk10 |
A |
G |
11: 32,554,190 (GRCm39) |
M626V |
probably damaging |
Het |
| Synpo2l |
T |
G |
14: 20,711,466 (GRCm39) |
I385L |
possibly damaging |
Het |
| Tmprss11d |
T |
C |
5: 86,486,671 (GRCm39) |
Y73C |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,066,726 (GRCm39) |
V309A |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 88,987,268 (GRCm39) |
I1235T |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,567,310 (GRCm39) |
I110V |
probably benign |
Het |
| Vps13c |
G |
A |
9: 67,880,143 (GRCm39) |
G3442S |
probably damaging |
Het |
| Zfp207 |
T |
A |
11: 80,286,333 (GRCm39) |
|
probably benign |
Het |
| Zfp748 |
A |
C |
13: 67,701,144 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Wdr59 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00737:Wdr59
|
APN |
8 |
112,185,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01330:Wdr59
|
APN |
8 |
112,208,565 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01413:Wdr59
|
APN |
8 |
112,227,706 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02306:Wdr59
|
APN |
8 |
112,219,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Wdr59
|
APN |
8 |
112,188,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03057:Wdr59
|
APN |
8 |
112,202,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03204:Wdr59
|
APN |
8 |
112,212,002 (GRCm39) |
missense |
probably benign |
0.05 |
|
electron
|
UTSW |
8 |
112,185,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
photon
|
UTSW |
8 |
112,187,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0056:Wdr59
|
UTSW |
8 |
112,207,239 (GRCm39) |
splice site |
probably benign |
|
|
R0096:Wdr59
|
UTSW |
8 |
112,231,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Wdr59
|
UTSW |
8 |
112,231,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Wdr59
|
UTSW |
8 |
112,248,604 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0472:Wdr59
|
UTSW |
8 |
112,213,629 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0501:Wdr59
|
UTSW |
8 |
112,185,579 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0526:Wdr59
|
UTSW |
8 |
112,207,172 (GRCm39) |
small deletion |
probably benign |
|
|
R0534:Wdr59
|
UTSW |
8 |
112,207,172 (GRCm39) |
small deletion |
probably benign |
|
|
R0601:Wdr59
|
UTSW |
8 |
112,207,172 (GRCm39) |
small deletion |
probably benign |
|
|
R1144:Wdr59
|
UTSW |
8 |
112,213,576 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1415:Wdr59
|
UTSW |
8 |
112,225,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1571:Wdr59
|
UTSW |
8 |
112,177,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1661:Wdr59
|
UTSW |
8 |
112,205,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Wdr59
|
UTSW |
8 |
112,205,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Wdr59
|
UTSW |
8 |
112,211,972 (GRCm39) |
missense |
probably benign |
|
|
R1856:Wdr59
|
UTSW |
8 |
112,202,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Wdr59
|
UTSW |
8 |
112,185,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Wdr59
|
UTSW |
8 |
112,213,582 (GRCm39) |
nonsense |
probably null |
|
|
R1965:Wdr59
|
UTSW |
8 |
112,177,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Wdr59
|
UTSW |
8 |
112,177,535 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1977:Wdr59
|
UTSW |
8 |
112,185,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2019:Wdr59
|
UTSW |
8 |
112,193,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4245:Wdr59
|
UTSW |
8 |
112,216,996 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4471:Wdr59
|
UTSW |
8 |
112,193,419 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4820:Wdr59
|
UTSW |
8 |
112,207,446 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5198:Wdr59
|
UTSW |
8 |
112,208,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5540:Wdr59
|
UTSW |
8 |
112,211,816 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5571:Wdr59
|
UTSW |
8 |
112,192,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6166:Wdr59
|
UTSW |
8 |
112,199,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6732:Wdr59
|
UTSW |
8 |
112,227,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Wdr59
|
UTSW |
8 |
112,202,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6823:Wdr59
|
UTSW |
8 |
112,185,672 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6841:Wdr59
|
UTSW |
8 |
112,223,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6888:Wdr59
|
UTSW |
8 |
112,177,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6974:Wdr59
|
UTSW |
8 |
112,187,420 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6982:Wdr59
|
UTSW |
8 |
112,187,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7066:Wdr59
|
UTSW |
8 |
112,192,477 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7154:Wdr59
|
UTSW |
8 |
112,185,367 (GRCm39) |
missense |
|
|
|
R7176:Wdr59
|
UTSW |
8 |
112,219,388 (GRCm39) |
missense |
|
|
|
R7286:Wdr59
|
UTSW |
8 |
112,192,494 (GRCm39) |
missense |
|
|
|
R7332:Wdr59
|
UTSW |
8 |
112,220,986 (GRCm39) |
missense |
|
|
|
R7537:Wdr59
|
UTSW |
8 |
112,217,001 (GRCm39) |
missense |
|
|
|
R7614:Wdr59
|
UTSW |
8 |
112,219,394 (GRCm39) |
missense |
|
|
|
R7758:Wdr59
|
UTSW |
8 |
112,207,117 (GRCm39) |
missense |
|
|
|
R7800:Wdr59
|
UTSW |
8 |
112,248,570 (GRCm39) |
missense |
|
|
|
R7861:Wdr59
|
UTSW |
8 |
112,220,912 (GRCm39) |
missense |
|
|
|
R8137:Wdr59
|
UTSW |
8 |
112,212,011 (GRCm39) |
missense |
|
|
|
R8726:Wdr59
|
UTSW |
8 |
112,223,466 (GRCm39) |
missense |
|
|
|
R8942:Wdr59
|
UTSW |
8 |
112,211,808 (GRCm39) |
missense |
probably benign |
|
|
R9318:Wdr59
|
UTSW |
8 |
112,177,700 (GRCm39) |
missense |
|
|
|
X0026:Wdr59
|
UTSW |
8 |
112,205,972 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATTGCACCATATGTTGTTCTGAGT -3'
(R):5'- AGCCAACCTGTGCTTTAGTAT -3'
Sequencing Primer
(F):5'- CACCATATGTTGTTCTGAGTTCTTG -3'
(R):5'- GTCCCACTTCTTATCCCAAGAC -3'
|
| Posted On |
2013-08-20 |
Incidental Mutation