Incidental Mutation 'R1227:Zfp108'
| ID |
172408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp108
|
| Ensembl Gene |
ENSMUSG00000030486 |
| Gene Name |
zinc finger protein 108 |
| Synonyms |
|
| MMRRC Submission |
039296-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R1227 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
23954219-23961870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23959885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 159
(W159R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072713]
[ENSMUST00000205982]
[ENSMUST00000206777]
|
| AlphaFold |
E9Q8I5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072713
AA Change: W159R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000072496
Gene: ENSMUSG00000030486
AA Change: W159R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
63 |
7.94e-18 |
SMART |
|
low complexity region
|
140 |
153 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
281 |
303 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
309 |
331 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
337 |
359 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
365 |
387 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
393 |
415 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
421 |
443 |
1.87e-5 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
477 |
497 |
1.08e1 |
SMART |
|
ZnF_C2H2
|
503 |
525 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
531 |
553 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
559 |
581 |
4.61e-5 |
SMART |
|
ZnF_C2H2
|
587 |
609 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
615 |
637 |
1.67e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205982
AA Change: W159R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206777
AA Change: W159R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd42 |
T |
A |
7: 92,254,508 (GRCm39) |
H367L |
possibly damaging |
Het |
| Arvcf |
C |
T |
16: 18,207,169 (GRCm39) |
R43C |
probably benign |
Het |
| Camk1g |
T |
C |
1: 193,029,741 (GRCm39) |
E453G |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,230,954 (GRCm39) |
L1378Q |
probably damaging |
Het |
| Cplx1 |
T |
C |
5: 108,673,262 (GRCm39) |
D53G |
possibly damaging |
Het |
| Ddx31 |
A |
G |
2: 28,747,187 (GRCm39) |
E222G |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Fermt2 |
A |
G |
14: 45,697,447 (GRCm39) |
S635P |
probably benign |
Het |
| Gls2 |
T |
C |
10: 128,035,533 (GRCm39) |
S104P |
probably damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,800,601 (GRCm39) |
S226A |
possibly damaging |
Het |
| Klk1b5 |
T |
C |
7: 43,496,670 (GRCm39) |
|
probably null |
Het |
| Nuak1 |
T |
A |
10: 84,276,173 (GRCm39) |
T17S |
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,217 (GRCm39) |
M159V |
probably benign |
Het |
| Or5p54 |
C |
A |
7: 107,554,259 (GRCm39) |
S137Y |
probably damaging |
Het |
| Prag1 |
G |
A |
8: 36,607,105 (GRCm39) |
E949K |
probably damaging |
Het |
| Pramel25 |
A |
G |
4: 143,520,134 (GRCm39) |
H126R |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,808,372 (GRCm39) |
L468P |
probably damaging |
Het |
| Sez6l |
C |
A |
5: 112,621,330 (GRCm39) |
C248F |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,711 (GRCm39) |
I210T |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,620,629 (GRCm39) |
G394S |
probably benign |
Het |
|
| Other mutations in Zfp108 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00591:Zfp108
|
APN |
7 |
23,960,911 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01392:Zfp108
|
APN |
7 |
23,957,872 (GRCm39) |
splice site |
probably benign |
|
|
R0123:Zfp108
|
UTSW |
7 |
23,959,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0126:Zfp108
|
UTSW |
7 |
23,960,149 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0134:Zfp108
|
UTSW |
7 |
23,959,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0243:Zfp108
|
UTSW |
7 |
23,961,208 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1464:Zfp108
|
UTSW |
7 |
23,959,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1464:Zfp108
|
UTSW |
7 |
23,959,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1731:Zfp108
|
UTSW |
7 |
23,957,964 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1739:Zfp108
|
UTSW |
7 |
23,960,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Zfp108
|
UTSW |
7 |
23,961,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Zfp108
|
UTSW |
7 |
23,961,270 (GRCm39) |
nonsense |
probably null |
|
|
R3839:Zfp108
|
UTSW |
7 |
23,959,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3919:Zfp108
|
UTSW |
7 |
23,960,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3922:Zfp108
|
UTSW |
7 |
23,960,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Zfp108
|
UTSW |
7 |
23,959,837 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4912:Zfp108
|
UTSW |
7 |
23,960,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Zfp108
|
UTSW |
7 |
23,959,573 (GRCm39) |
missense |
probably benign |
|
|
R4989:Zfp108
|
UTSW |
7 |
23,960,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5014:Zfp108
|
UTSW |
7 |
23,960,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5163:Zfp108
|
UTSW |
7 |
23,960,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5183:Zfp108
|
UTSW |
7 |
23,960,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5184:Zfp108
|
UTSW |
7 |
23,960,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5185:Zfp108
|
UTSW |
7 |
23,960,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5453:Zfp108
|
UTSW |
7 |
23,960,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5600:Zfp108
|
UTSW |
7 |
23,960,011 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6494:Zfp108
|
UTSW |
7 |
23,960,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6601:Zfp108
|
UTSW |
7 |
23,960,819 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6735:Zfp108
|
UTSW |
7 |
23,961,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7646:Zfp108
|
UTSW |
7 |
23,960,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7732:Zfp108
|
UTSW |
7 |
23,960,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7873:Zfp108
|
UTSW |
7 |
23,960,758 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8100:Zfp108
|
UTSW |
7 |
23,960,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8313:Zfp108
|
UTSW |
7 |
23,960,087 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9169:Zfp108
|
UTSW |
7 |
23,960,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9702:Zfp108
|
UTSW |
7 |
23,960,195 (GRCm39) |
missense |
probably benign |
0.02 |
|
RF019:Zfp108
|
UTSW |
7 |
23,961,032 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAACTTAGCCCTTCAATGTCCCC -3'
(R):5'- TGATGACTTGATCACAGTCACCGC -3'
Sequencing Primer
(F):5'- TATATTCCCTTCAGGAGGCCAGAG -3'
(R):5'- ACAGTCACCGCTGCTGG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation