Incidental Mutation 'R8703:Zfp110'
| ID |
669150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp110
|
| Ensembl Gene |
ENSMUSG00000058638 |
| Gene Name |
zinc finger protein 110 |
| Synonyms |
Nrif1, 2900024E01Rik, NRIF |
| MMRRC Submission |
068557-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.698)
|
| Stock # |
R8703 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12568688-12584504 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12582888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 512
(I512K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004614]
[ENSMUST00000168247]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004614
AA Change: I512K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000004614
Gene: ENSMUSG00000058638
AA Change: I512K
| 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 |
probably benign
Transcript: ENSMUST00000168247
AA Change: I512K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132060
Gene: ENSMUSG00000058638
AA Change: I512K
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,676,792 (GRCm39) |
T2013I |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,201,120 (GRCm39) |
N137Y |
|
Het |
| Apol10b |
T |
A |
15: 77,472,897 (GRCm39) |
E52D |
probably damaging |
Het |
| Calr3 |
A |
T |
8: 73,192,291 (GRCm39) |
Y128N |
probably damaging |
Het |
| Dnah14 |
T |
A |
1: 181,493,576 (GRCm39) |
L1669* |
probably null |
Het |
| Dppa3 |
A |
T |
6: 122,605,737 (GRCm39) |
D97V |
probably damaging |
Het |
| Dync1li1 |
C |
A |
9: 114,552,329 (GRCm39) |
P490T |
probably damaging |
Het |
| Eya4 |
A |
G |
10: 23,039,340 (GRCm39) |
S85P |
probably benign |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,332 (GRCm39) |
I113N |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,247,997 (GRCm39) |
D1040G |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,821,871 (GRCm39) |
D5868V |
probably damaging |
Het |
| Gpr75 |
A |
C |
11: 30,841,890 (GRCm39) |
Q265P |
probably damaging |
Het |
| Iqcm |
G |
T |
8: 76,615,271 (GRCm39) |
G451C |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Mcm9 |
G |
A |
10: 53,506,073 (GRCm39) |
P67L |
probably damaging |
Het |
| Naalad2 |
A |
C |
9: 18,290,008 (GRCm39) |
Y207D |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,323,703 (GRCm39) |
D1325N |
probably damaging |
Het |
| Nup133 |
A |
G |
8: 124,643,021 (GRCm39) |
|
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or4b1b |
T |
A |
2: 90,126,837 (GRCm39) |
I123F |
probably damaging |
Het |
| Or8k28 |
C |
A |
2: 86,286,244 (GRCm39) |
V124L |
possibly damaging |
Het |
| Or9i14 |
G |
T |
19: 13,792,105 (GRCm39) |
P283H |
probably damaging |
Het |
| Per2 |
T |
A |
1: 91,351,767 (GRCm39) |
N913I |
possibly damaging |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Reps1 |
C |
T |
10: 17,968,990 (GRCm39) |
R183C |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,496,137 (GRCm39) |
C134S |
|
Het |
| Rpl10-ps3 |
A |
G |
9: 50,256,184 (GRCm39) |
S20P |
probably benign |
Het |
| Sash1 |
C |
A |
10: 8,605,595 (GRCm39) |
G932C |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,854,959 (GRCm39) |
Q46R |
|
Het |
| Sh3d19 |
A |
G |
3: 86,014,568 (GRCm39) |
E453G |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,461,548 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
T |
3: 72,867,657 (GRCm39) |
F129L |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,733,207 (GRCm39) |
I399F |
unknown |
Het |
| Slc22a7 |
T |
C |
17: 46,744,951 (GRCm39) |
D365G |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,324,447 (GRCm39) |
M38V |
probably benign |
Het |
| Slc9b2 |
C |
A |
3: 135,031,924 (GRCm39) |
Y261* |
probably null |
Het |
| Spata21 |
A |
G |
4: 140,832,218 (GRCm39) |
I460V |
probably benign |
Het |
| Tes |
C |
G |
6: 17,099,788 (GRCm39) |
P261R |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,062,724 (GRCm39) |
L718P |
probably benign |
Het |
| Tmem135 |
G |
A |
7: 88,808,170 (GRCm39) |
A202V |
probably benign |
Het |
| Usp29 |
T |
C |
7: 6,964,321 (GRCm39) |
F55L |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,356,317 (GRCm39) |
L1128P |
probably damaging |
Het |
| Zdhhc5 |
T |
C |
2: 84,520,596 (GRCm39) |
E527G |
probably benign |
Het |
| Zfand4 |
A |
G |
6: 116,250,604 (GRCm39) |
I11M |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,954,143 (GRCm39) |
F1416Y |
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 |
|
R0725:Zfp110
|
UTSW |
7 |
12,570,290 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
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 |
|
|
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'- ACCATTTCCATGACACGAGG -3'
(R):5'- AGGCATGTGTCAAGAGACTG -3'
Sequencing Primer
(F):5'- TCCATGACACGAGGTTTACG -3'
(R):5'- CAAGAGACTGTTGTCACTGGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation