Incidental Mutation 'R0725:Zfp110'
| ID |
63654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp110
|
| Ensembl Gene |
ENSMUSG00000058638 |
| Gene Name |
zinc finger protein 110 |
| Synonyms |
Nrif1, 2900024E01Rik, NRIF |
| MMRRC Submission |
038907-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.698)
|
| Stock # |
R0725 (G1)
|
| Quality Score |
102 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12568688-12584504 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12570290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 39
(Q39L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004614]
[ENSMUST00000168247]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004614
AA Change: Q39L
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000004614
Gene: ENSMUSG00000058638
AA Change: Q39L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
18 |
78 |
1.38e-26 |
SMART |
|
SCAN
|
158 |
269 |
1.48e-39 |
SMART |
|
KRAB
|
284 |
351 |
2.94e-12 |
SMART |
|
low complexity region
|
424 |
438 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
688 |
710 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
716 |
738 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
744 |
766 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
772 |
794 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
800 |
822 |
2.75e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154011
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168247
AA Change: Q39L
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132060
Gene: ENSMUSG00000058638
AA Change: Q39L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
18 |
78 |
1.38e-26 |
SMART |
|
SCAN
|
158 |
269 |
1.48e-39 |
SMART |
|
KRAB
|
284 |
351 |
2.94e-12 |
SMART |
|
low complexity region
|
424 |
438 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
688 |
710 |
1.43e-1 |
SMART |
|
ZnF_C2H2
|
716 |
738 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
744 |
766 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
772 |
794 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
800 |
822 |
2.75e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.5416 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.7%
|
| Validation Efficiency |
100% (70/70) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutants on a C57BL/6 background die at embryonic day 12. On a strain 129 background, mutants are viable and fertile, but males are more docile and testis weight is greatly reduced. On an F2 background, 20% of homozygous pups die neonatally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asph |
C |
T |
4: 9,542,275 (GRCm39) |
D305N |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,170,205 (GRCm39) |
K327R |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,026,264 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
T |
C |
12: 108,161,834 (GRCm39) |
|
probably benign |
Het |
| Cep55 |
T |
C |
19: 38,048,622 (GRCm39) |
S93P |
possibly damaging |
Het |
| Cfap300 |
A |
T |
9: 8,027,144 (GRCm39) |
D131E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,085,081 (GRCm39) |
|
probably benign |
Het |
| Clptm1l |
A |
G |
13: 73,754,462 (GRCm39) |
T129A |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,220,206 (GRCm39) |
E672G |
probably benign |
Het |
| Cpped1 |
C |
A |
16: 11,646,314 (GRCm39) |
W170L |
probably damaging |
Het |
| Crygb |
T |
C |
1: 65,121,100 (GRCm39) |
I76V |
probably benign |
Het |
| Cyp3a25 |
A |
G |
5: 145,931,746 (GRCm39) |
S121P |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,484,024 (GRCm39) |
D395G |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,163,170 (GRCm39) |
V597A |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,833,528 (GRCm39) |
D1891G |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,787,682 (GRCm39) |
D951G |
possibly damaging |
Het |
| Dync2h1 |
C |
A |
9: 7,015,497 (GRCm39) |
V3603F |
possibly damaging |
Het |
| Fam167b |
C |
A |
4: 129,472,078 (GRCm39) |
A31S |
probably damaging |
Het |
| Fgfrl1 |
T |
A |
5: 108,852,539 (GRCm39) |
I25N |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,526,569 (GRCm39) |
R347* |
probably null |
Het |
| Heatr5b |
T |
A |
17: 79,103,825 (GRCm39) |
I1117F |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,907,767 (GRCm39) |
V456A |
possibly damaging |
Het |
| Macc1 |
C |
A |
12: 119,411,251 (GRCm39) |
S673* |
probably null |
Het |
| Mpp4 |
T |
C |
1: 59,160,581 (GRCm39) |
E574G |
probably damaging |
Het |
| Muc20 |
C |
T |
16: 32,613,858 (GRCm39) |
M506I |
probably benign |
Het |
| Ncbp1 |
A |
G |
4: 46,152,056 (GRCm39) |
T218A |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,716,473 (GRCm39) |
V46E |
probably benign |
Het |
| Nfyc |
G |
T |
4: 120,625,931 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,581,766 (GRCm39) |
E454G |
probably benign |
Het |
| Or51f5 |
T |
A |
7: 102,423,739 (GRCm39) |
S3T |
probably benign |
Het |
| Or8g55 |
A |
T |
9: 39,784,643 (GRCm39) |
Q24L |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,122,101 (GRCm39) |
F681S |
possibly damaging |
Het |
| Pcm1 |
G |
C |
8: 41,740,848 (GRCm39) |
E1031D |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,115,730 (GRCm39) |
E1486G |
probably benign |
Het |
| Pex12 |
G |
T |
11: 83,188,860 (GRCm39) |
A45E |
probably damaging |
Het |
| Pheta1 |
T |
A |
5: 121,991,314 (GRCm39) |
H225Q |
probably benign |
Het |
| Pigm |
A |
G |
1: 172,204,384 (GRCm39) |
D40G |
probably damaging |
Het |
| Pkp1 |
G |
T |
1: 135,808,478 (GRCm39) |
N496K |
probably benign |
Het |
| Psmc4 |
T |
C |
7: 27,748,287 (GRCm39) |
I54V |
probably benign |
Het |
| Rbm33 |
T |
C |
5: 28,599,481 (GRCm39) |
V951A |
unknown |
Het |
| Selenbp2 |
G |
T |
3: 94,604,809 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
G |
A |
17: 85,368,263 (GRCm39) |
W510* |
probably null |
Het |
| Stx12 |
A |
C |
4: 132,584,701 (GRCm39) |
|
probably benign |
Het |
| Tas2r125 |
G |
T |
6: 132,887,085 (GRCm39) |
D158Y |
probably benign |
Het |
| Tchp |
C |
A |
5: 114,857,682 (GRCm39) |
Q392K |
probably benign |
Het |
| Tmed11 |
T |
A |
5: 108,926,855 (GRCm39) |
D139V |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,578,654 (GRCm39) |
V24080M |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,683,722 (GRCm39) |
G4967D |
probably damaging |
Het |
| Vezf1 |
T |
C |
11: 87,964,156 (GRCm39) |
S103P |
probably benign |
Het |
| Xpnpep3 |
T |
C |
15: 81,315,043 (GRCm39) |
S248P |
probably damaging |
Het |
| Yipf2 |
G |
C |
9: 21,503,519 (GRCm39) |
|
probably null |
Het |
| Zfp287 |
A |
T |
11: 62,605,039 (GRCm39) |
C623S |
probably damaging |
Het |
|
| Other mutations in Zfp110 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00705:Zfp110
|
APN |
7 |
12,583,086 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01094:Zfp110
|
APN |
7 |
12,583,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01576:Zfp110
|
APN |
7 |
12,583,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01859:Zfp110
|
APN |
7 |
12,583,467 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02003:Zfp110
|
APN |
7 |
12,583,832 (GRCm39) |
nonsense |
probably null |
|
|
R0122:Zfp110
|
UTSW |
7 |
12,582,524 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0357:Zfp110
|
UTSW |
7 |
12,570,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0383:Zfp110
|
UTSW |
7 |
12,583,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0926:Zfp110
|
UTSW |
7 |
12,583,808 (GRCm39) |
nonsense |
probably null |
|
|
R1146:Zfp110
|
UTSW |
7 |
12,580,721 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1146:Zfp110
|
UTSW |
7 |
12,580,721 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1472:Zfp110
|
UTSW |
7 |
12,582,468 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1663:Zfp110
|
UTSW |
7 |
12,582,569 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1975:Zfp110
|
UTSW |
7 |
12,582,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2046:Zfp110
|
UTSW |
7 |
12,583,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2296:Zfp110
|
UTSW |
7 |
12,583,467 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2341:Zfp110
|
UTSW |
7 |
12,583,113 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4332:Zfp110
|
UTSW |
7 |
12,578,498 (GRCm39) |
nonsense |
probably null |
|
|
R5892:Zfp110
|
UTSW |
7 |
12,582,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5955:Zfp110
|
UTSW |
7 |
12,582,672 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6083:Zfp110
|
UTSW |
7 |
12,578,602 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6115:Zfp110
|
UTSW |
7 |
12,583,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7187:Zfp110
|
UTSW |
7 |
12,583,753 (GRCm39) |
nonsense |
probably null |
|
|
R7455:Zfp110
|
UTSW |
7 |
12,581,984 (GRCm39) |
missense |
probably benign |
|
|
R7570:Zfp110
|
UTSW |
7 |
12,583,267 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7727:Zfp110
|
UTSW |
7 |
12,582,922 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7895:Zfp110
|
UTSW |
7 |
12,571,020 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8179:Zfp110
|
UTSW |
7 |
12,578,498 (GRCm39) |
nonsense |
probably null |
|
|
R8703:Zfp110
|
UTSW |
7 |
12,582,888 (GRCm39) |
missense |
probably benign |
|
|
R9207:Zfp110
|
UTSW |
7 |
12,582,485 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9794:Zfp110
|
UTSW |
7 |
12,578,521 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTCAGACCGATTTGCTCAAGG -3'
(R):5'- TGAGCCCAAGCACTTACAGTTCAG -3'
Sequencing Primer
(F):5'- CCGATTTGCTCAAGGATTCAGAC -3'
(R):5'- CGCACATCCAGAATTGGGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation