Incidental Mutation 'R5600:Zfp108'
| ID |
438985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp108
|
| Ensembl Gene |
ENSMUSG00000030486 |
| Gene Name |
zinc finger protein 108 |
| Synonyms |
|
| MMRRC Submission |
043152-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5600 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
23954219-23961870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23960011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 201
(S201G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072713]
[ENSMUST00000205982]
[ENSMUST00000206777]
|
| AlphaFold |
E9Q8I5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072713
AA Change: S201G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000072496
Gene: ENSMUSG00000030486
AA Change: S201G
| 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: S201G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206777
AA Change: S201G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol11b |
A |
C |
15: 77,519,288 (GRCm39) |
M264R |
probably damaging |
Het |
| Asprv1 |
G |
T |
6: 86,606,044 (GRCm39) |
E297* |
probably null |
Het |
| Atp6v1c1 |
T |
C |
15: 38,687,107 (GRCm39) |
V234A |
probably benign |
Het |
| Ccp110 |
G |
A |
7: 118,328,948 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
T |
C |
5: 123,426,761 (GRCm39) |
V383A |
possibly damaging |
Het |
| Fgfrl1 |
T |
C |
5: 108,853,168 (GRCm39) |
C173R |
probably damaging |
Het |
| Gm5431 |
G |
A |
11: 48,785,583 (GRCm39) |
T264M |
possibly damaging |
Het |
| Golga1 |
T |
C |
2: 38,910,111 (GRCm39) |
E637G |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,832,046 (GRCm39) |
T1049A |
probably benign |
Het |
| Hcn4 |
T |
A |
9: 58,766,576 (GRCm39) |
|
probably null |
Het |
| Krt86 |
G |
A |
15: 101,374,386 (GRCm39) |
V260I |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,927,490 (GRCm39) |
Q548L |
probably damaging |
Het |
| Lingo4 |
A |
T |
3: 94,309,220 (GRCm39) |
I53F |
probably benign |
Het |
| Lrrk1 |
A |
C |
7: 65,956,963 (GRCm39) |
I336S |
probably benign |
Het |
| Magel2 |
G |
T |
7: 62,029,514 (GRCm39) |
G806V |
unknown |
Het |
| Mrc2 |
T |
A |
11: 105,224,492 (GRCm39) |
S501T |
probably damaging |
Het |
| Mrps18a |
T |
A |
17: 46,436,575 (GRCm39) |
L128* |
probably null |
Het |
| Mtor |
G |
T |
4: 148,575,927 (GRCm39) |
L1360F |
probably damaging |
Het |
| Mtpap |
A |
G |
18: 4,379,674 (GRCm39) |
E88G |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,196,436 (GRCm39) |
K1294R |
probably benign |
Het |
| Or10al2 |
G |
A |
17: 37,983,176 (GRCm39) |
M87I |
possibly damaging |
Het |
| Pik3c3 |
G |
A |
18: 30,444,346 (GRCm39) |
V520M |
probably damaging |
Het |
| Pptc7 |
T |
A |
5: 122,458,918 (GRCm39) |
V305E |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,963,566 (GRCm39) |
D682G |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,599,157 (GRCm39) |
Q538L |
probably damaging |
Het |
| Sbk1 |
G |
A |
7: 125,891,415 (GRCm39) |
R283H |
probably damaging |
Het |
| Sfswap |
T |
C |
5: 129,590,222 (GRCm39) |
F240L |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 130,927,503 (GRCm39) |
H101L |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,767,107 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,151,778 (GRCm39) |
T986A |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,188,101 (GRCm39) |
S496T |
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,054,541 (GRCm39) |
|
probably null |
Het |
| Tiam1 |
G |
T |
16: 89,662,253 (GRCm39) |
R622S |
probably damaging |
Het |
| Vmn2r109 |
C |
A |
17: 20,761,189 (GRCm39) |
D723Y |
probably damaging |
Het |
| Vmn2r70 |
G |
T |
7: 85,212,935 (GRCm39) |
Q491K |
probably benign |
Het |
| Wnk1 |
A |
C |
6: 119,926,319 (GRCm39) |
S1297R |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,385,233 (GRCm39) |
V5067I |
unknown |
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 |
|
R1227:Zfp108
|
UTSW |
7 |
23,959,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- GCTCACCAGCAACCATTCTG -3'
(R):5'- AGTACTATGCACAGGGGACTTC -3'
Sequencing Primer
(F):5'- CTGAAAGTCAAGAATTTCTGTCTGGG -3'
(R):5'- CACAGGGGACTTCTTTCCTAAGAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation