Incidental Mutation 'R6115:Zfp110'
ID |
485074 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp110
|
Ensembl Gene |
ENSMUSG00000058638 |
Gene Name |
zinc finger protein 110 |
Synonyms |
Nrif1, 2900024E01Rik, NRIF |
MMRRC Submission |
044264-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.698)
|
Stock # |
R6115 (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 12583701 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 783
(Q783L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132060
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004614]
[ENSMUST00000168247]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004614
AA Change: Q783L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000004614 Gene: ENSMUSG00000058638 AA Change: Q783L
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 |
probably damaging
Transcript: ENSMUST00000168247
AA Change: Q783L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132060 Gene: ENSMUSG00000058638 AA Change: Q783L
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 |
0.2259 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (51/52) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
C |
G |
5: 64,055,317 (GRCm39) |
Q18E |
probably damaging |
Het |
Acsf3 |
T |
A |
8: 123,517,411 (GRCm39) |
H402Q |
probably damaging |
Het |
Adam34 |
T |
G |
8: 44,105,098 (GRCm39) |
Q182H |
probably benign |
Het |
Alx1 |
G |
A |
10: 102,864,304 (GRCm39) |
P55L |
possibly damaging |
Het |
Arhgef38 |
A |
T |
3: 132,838,374 (GRCm39) |
|
probably null |
Het |
Ccdc102a |
T |
C |
8: 95,629,999 (GRCm39) |
N514S |
probably benign |
Het |
Corin |
T |
A |
5: 72,518,072 (GRCm39) |
T317S |
probably damaging |
Het |
Ctnna2 |
A |
G |
6: 77,613,822 (GRCm39) |
V256A |
probably benign |
Het |
Dhx29 |
A |
T |
13: 113,089,335 (GRCm39) |
|
probably null |
Het |
Dnah2 |
C |
A |
11: 69,337,475 (GRCm39) |
D3209Y |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,363,194 (GRCm39) |
T3919A |
probably benign |
Het |
F7 |
T |
A |
8: 13,083,958 (GRCm39) |
N214K |
probably benign |
Het |
Fam3b |
T |
G |
16: 97,276,568 (GRCm39) |
Q177H |
possibly damaging |
Het |
Fign |
T |
C |
2: 63,809,654 (GRCm39) |
I539V |
probably benign |
Het |
Hc |
T |
G |
2: 34,903,050 (GRCm39) |
D1067A |
probably damaging |
Het |
Herc6 |
A |
G |
6: 57,560,191 (GRCm39) |
D77G |
probably benign |
Het |
Hmg20a |
A |
T |
9: 56,397,116 (GRCm39) |
E305D |
possibly damaging |
Het |
Il16 |
G |
A |
7: 83,301,775 (GRCm39) |
Q116* |
probably null |
Het |
Kif13a |
T |
A |
13: 46,954,789 (GRCm39) |
I648F |
probably damaging |
Het |
Lactb |
G |
T |
9: 66,874,969 (GRCm39) |
N374K |
possibly damaging |
Het |
Lmx1b |
T |
C |
2: 33,459,118 (GRCm39) |
D145G |
probably damaging |
Het |
Lrfn4 |
T |
C |
19: 4,663,937 (GRCm39) |
D199G |
probably damaging |
Het |
Lrrc49 |
A |
T |
9: 60,522,444 (GRCm39) |
V307E |
possibly damaging |
Het |
Magi1 |
A |
C |
6: 93,685,051 (GRCm39) |
S776A |
possibly damaging |
Het |
Mthfsl |
T |
A |
9: 88,570,807 (GRCm39) |
*147L |
probably null |
Het |
Nsmce4a |
G |
T |
7: 130,148,722 (GRCm39) |
Q95K |
probably benign |
Het |
Or1j15 |
A |
T |
2: 36,458,963 (GRCm39) |
M118L |
probably damaging |
Het |
Or4k37 |
A |
G |
2: 111,159,558 (GRCm39) |
T265A |
probably benign |
Het |
Or4k49 |
A |
T |
2: 111,494,987 (GRCm39) |
K139* |
probably null |
Het |
Or5b24 |
T |
C |
19: 12,912,948 (GRCm39) |
V282A |
possibly damaging |
Het |
Pcdha7 |
A |
G |
18: 37,107,788 (GRCm39) |
E271G |
probably damaging |
Het |
Pcdhga8 |
T |
A |
18: 37,860,596 (GRCm39) |
F551I |
possibly damaging |
Het |
Prpf31 |
T |
C |
7: 3,642,705 (GRCm39) |
|
probably null |
Het |
Qrfpr |
C |
T |
3: 36,236,742 (GRCm39) |
V220I |
possibly damaging |
Het |
Rnf170 |
T |
C |
8: 26,615,994 (GRCm39) |
F95S |
possibly damaging |
Het |
Scn9a |
T |
A |
2: 66,393,973 (GRCm39) |
Y200F |
possibly damaging |
Het |
Sfpq |
A |
T |
4: 126,915,141 (GRCm39) |
|
probably null |
Het |
Slc9c1 |
A |
T |
16: 45,376,132 (GRCm39) |
Y406F |
probably damaging |
Het |
Stk32c |
G |
T |
7: 138,700,628 (GRCm39) |
Y200* |
probably null |
Het |
Svil |
A |
G |
18: 5,108,675 (GRCm39) |
R1938G |
probably damaging |
Het |
Sycp2 |
G |
C |
2: 177,990,038 (GRCm39) |
R1403G |
probably benign |
Het |
Tm9sf4 |
T |
C |
2: 153,024,409 (GRCm39) |
|
probably null |
Het |
Tmc3 |
A |
T |
7: 83,264,170 (GRCm39) |
M633L |
possibly damaging |
Het |
Tmem163 |
T |
C |
1: 127,605,185 (GRCm39) |
D61G |
possibly damaging |
Het |
Unc5b |
C |
A |
10: 60,613,325 (GRCm39) |
A304S |
probably benign |
Het |
Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
Vmn2r18 |
A |
T |
5: 151,508,462 (GRCm39) |
S221T |
possibly damaging |
Het |
Vmn2r85 |
T |
G |
10: 130,258,672 (GRCm39) |
Y461S |
probably damaging |
Het |
Yod1 |
T |
C |
1: 130,646,800 (GRCm39) |
F226L |
possibly damaging |
Het |
Zbtb4 |
T |
C |
11: 69,667,148 (GRCm39) |
I151T |
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 |
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'- GGCCTGTGGGAAAGCATTTG -3'
(R):5'- TGTCTGCATAGTACATCTCAAGG -3'
Sequencing Primer
(F):5'- GGAAAGCATTTGTTCAGAGCTCCTC -3'
(R):5'- CTGATGCCCAATAAGGTG -3'
|
Posted On |
2017-08-16 |