Incidental Mutation 'R9207:Zfp110'
| ID |
698581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp110
|
| Ensembl Gene |
ENSMUSG00000058638 |
| Gene Name |
zinc finger protein 110 |
| Synonyms |
Nrif1, 2900024E01Rik, NRIF |
| MMRRC Submission |
068981-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.698)
|
| Stock # |
R9207 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12568688-12584504 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12582485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 378
(I378L)
|
| 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: I378L
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000004614
Gene: ENSMUSG00000058638
AA Change: I378L
| 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: I378L
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132060
Gene: ENSMUSG00000058638
AA Change: I378L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (43/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
G |
8: 60,979,657 (GRCm39) |
I173S |
probably damaging |
Het |
| Actrt2 |
T |
A |
4: 154,751,920 (GRCm39) |
H72L |
probably benign |
Het |
| Adgrf1 |
A |
G |
17: 43,621,164 (GRCm39) |
D467G |
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,215,616 (GRCm39) |
L226P |
|
Het |
| Begain |
T |
C |
12: 108,999,250 (GRCm39) |
D507G |
probably damaging |
Het |
| Bsdc1 |
A |
G |
4: 129,362,830 (GRCm39) |
N134S |
probably benign |
Het |
| Ccdc39 |
C |
A |
3: 33,886,706 (GRCm39) |
E301* |
probably null |
Het |
| Cdh23 |
A |
G |
10: 60,243,210 (GRCm39) |
V1055A |
probably damaging |
Het |
| Efcab8 |
A |
G |
2: 153,656,339 (GRCm39) |
D591G |
unknown |
Het |
| Fibcd1 |
G |
A |
2: 31,706,455 (GRCm39) |
R459C |
probably damaging |
Het |
| Frem3 |
T |
G |
8: 81,340,071 (GRCm39) |
V788G |
possibly damaging |
Het |
| Ftcd |
A |
T |
10: 76,422,973 (GRCm39) |
I423L |
probably benign |
Het |
| Gad1 |
G |
A |
2: 70,409,546 (GRCm39) |
|
probably null |
Het |
| Gm8229 |
T |
C |
14: 44,606,238 (GRCm39) |
L156P |
|
Het |
| Grm7 |
T |
C |
6: 111,335,874 (GRCm39) |
Y762H |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,433,496 (GRCm39) |
V937D |
possibly damaging |
Het |
| Ifnz |
T |
C |
4: 88,701,525 (GRCm39) |
V168A |
probably benign |
Het |
| Irx4 |
C |
G |
13: 73,416,649 (GRCm39) |
C348W |
probably damaging |
Het |
| Itgb4 |
G |
T |
11: 115,897,923 (GRCm39) |
G1603V |
probably damaging |
Het |
| Krt32 |
A |
G |
11: 99,977,580 (GRCm39) |
V162A |
possibly damaging |
Het |
| Mpped2 |
A |
G |
2: 106,697,319 (GRCm39) |
T265A |
probably benign |
Het |
| Npas3 |
T |
C |
12: 54,114,818 (GRCm39) |
L580P |
possibly damaging |
Het |
| Or4f47 |
G |
A |
2: 111,972,397 (GRCm39) |
V36M |
probably benign |
Het |
| Or5b109 |
A |
T |
19: 13,212,400 (GRCm39) |
Q262L |
possibly damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,960 (GRCm39) |
M136I |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,058,117 (GRCm39) |
L3940P |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,763,904 (GRCm39) |
Y283H |
probably damaging |
Het |
| Rad54l |
T |
C |
4: 115,967,215 (GRCm39) |
H281R |
probably damaging |
Het |
| Rftn2 |
T |
A |
1: 55,224,149 (GRCm39) |
Q397L |
probably damaging |
Het |
| Rnf166 |
C |
T |
8: 123,195,068 (GRCm39) |
A151T |
probably benign |
Het |
| Setdb1 |
A |
T |
3: 95,246,113 (GRCm39) |
I604N |
possibly damaging |
Het |
| Smr2 |
A |
G |
5: 88,256,726 (GRCm39) |
T135A |
unknown |
Het |
| Snai2 |
C |
A |
16: 14,524,946 (GRCm39) |
H151N |
possibly damaging |
Het |
| Spag6l |
A |
T |
16: 16,598,492 (GRCm39) |
I333N |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,039,139 (GRCm39) |
T1161A |
probably benign |
Het |
| Sult2a1 |
G |
T |
7: 13,566,627 (GRCm39) |
A116E |
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,634,626 (GRCm39) |
L236* |
probably null |
Het |
| Tchhl1 |
T |
A |
3: 93,377,819 (GRCm39) |
N174K |
possibly damaging |
Het |
| Tex15 |
T |
C |
8: 34,065,784 (GRCm39) |
L1738P |
probably damaging |
Het |
| Timp4 |
T |
C |
6: 115,224,270 (GRCm39) |
Y133C |
probably damaging |
Het |
| Tmem25 |
A |
G |
9: 44,710,476 (GRCm39) |
|
probably null |
Het |
| Tubd1 |
A |
T |
11: 86,456,537 (GRCm39) |
T399S |
probably benign |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
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 |
|
|
R8703:Zfp110
|
UTSW |
7 |
12,582,888 (GRCm39) |
missense |
probably benign |
|
|
R9794:Zfp110
|
UTSW |
7 |
12,578,521 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCACTCCCTAGACGGAAG -3'
(R):5'- GCGTAAACCTCGTGTCATGG -3'
Sequencing Primer
(F):5'- CTCCCTAGACGGAAGGACTGTTTG -3'
(R):5'- CGTAAACCTCGTGTCATGGAAATG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation