Incidental Mutation 'R9464:Zgrf1'
ID |
715047 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zgrf1
|
Ensembl Gene |
ENSMUSG00000051278 |
Gene Name |
zinc finger, GRF-type containing 1 |
Synonyms |
4930422G04Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R9464 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
127347138-127411672 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 127377741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 995
(N995K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044432
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043108]
[ENSMUST00000196141]
[ENSMUST00000196341]
[ENSMUST00000199888]
[ENSMUST00000200490]
|
AlphaFold |
Q0VGT4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043108
AA Change: N995K
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000044432 Gene: ENSMUSG00000051278 AA Change: N995K
Domain | Start | End | E-Value | Type |
Pfam:DUF2439
|
3 |
81 |
3.7e-23 |
PFAM |
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
low complexity region
|
628 |
639 |
N/A |
INTRINSIC |
low complexity region
|
896 |
906 |
N/A |
INTRINSIC |
Pfam:zf-GRF
|
1109 |
1153 |
1.5e-17 |
PFAM |
low complexity region
|
1316 |
1328 |
N/A |
INTRINSIC |
Pfam:AAA_11
|
1501 |
1608 |
1.6e-21 |
PFAM |
Pfam:AAA_12
|
1616 |
1802 |
1.3e-51 |
PFAM |
coiled coil region
|
1833 |
1861 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196141
AA Change: N995K
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000143761 Gene: ENSMUSG00000051278 AA Change: N995K
Domain | Start | End | E-Value | Type |
Pfam:DUF2439
|
3 |
81 |
3.7e-23 |
PFAM |
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
low complexity region
|
628 |
639 |
N/A |
INTRINSIC |
low complexity region
|
896 |
906 |
N/A |
INTRINSIC |
Pfam:zf-GRF
|
1109 |
1153 |
1.5e-17 |
PFAM |
low complexity region
|
1316 |
1328 |
N/A |
INTRINSIC |
Pfam:AAA_11
|
1501 |
1608 |
1.6e-21 |
PFAM |
Pfam:AAA_12
|
1616 |
1802 |
1.3e-51 |
PFAM |
coiled coil region
|
1833 |
1861 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196341
AA Change: N111K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143570 Gene: ENSMUSG00000051278 AA Change: N111K
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
22 |
N/A |
INTRINSIC |
Pfam:zf-GRF
|
225 |
269 |
6.7e-15 |
PFAM |
low complexity region
|
432 |
444 |
N/A |
INTRINSIC |
Pfam:AAA_11
|
491 |
659 |
7.1e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199888
|
SMART Domains |
Protein: ENSMUSP00000142693 Gene: ENSMUSG00000051278
Domain | Start | End | E-Value | Type |
Pfam:DUF2439
|
3 |
82 |
3.5e-22 |
PFAM |
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
low complexity region
|
628 |
639 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200490
|
SMART Domains |
Protein: ENSMUSP00000143585 Gene: ENSMUSG00000051278
Domain | Start | End | E-Value | Type |
Pfam:DUF2439
|
3 |
81 |
3.4e-20 |
PFAM |
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
low complexity region
|
628 |
639 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930523C07Rik |
T |
C |
1: 159,902,865 (GRCm39) |
F45S |
possibly damaging |
Het |
Abca4 |
A |
G |
3: 121,913,714 (GRCm39) |
T897A |
probably benign |
Het |
Abhd5 |
A |
T |
9: 122,208,029 (GRCm39) |
T308S |
probably benign |
Het |
Abi2 |
G |
A |
1: 60,478,100 (GRCm39) |
|
probably null |
Het |
Abi3bp |
C |
A |
16: 56,409,046 (GRCm39) |
T283N |
possibly damaging |
Het |
Adcy2 |
A |
C |
13: 68,882,776 (GRCm39) |
N320K |
probably damaging |
Het |
Adcy3 |
T |
A |
12: 4,256,939 (GRCm39) |
M819K |
probably benign |
Het |
Anapc5 |
A |
G |
5: 122,940,209 (GRCm39) |
V354A |
probably benign |
Het |
Card14 |
A |
G |
11: 119,208,031 (GRCm39) |
I34V |
probably benign |
Het |
Ccdc153 |
A |
T |
9: 44,157,011 (GRCm39) |
T118S |
possibly damaging |
Het |
Champ1 |
G |
A |
8: 13,929,114 (GRCm39) |
G424D |
probably damaging |
Het |
Crybg3 |
A |
T |
16: 59,376,120 (GRCm39) |
|
probably benign |
Het |
Ctsr |
T |
A |
13: 61,307,295 (GRCm39) |
I334F |
possibly damaging |
Het |
Dlgap1 |
A |
T |
17: 70,823,964 (GRCm39) |
Q316H |
probably benign |
Het |
Dnajc18 |
A |
C |
18: 35,830,166 (GRCm39) |
C80G |
probably damaging |
Het |
Dthd1 |
G |
A |
5: 63,039,626 (GRCm39) |
R676H |
probably benign |
Het |
Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
Fancc |
T |
C |
13: 63,550,769 (GRCm39) |
K18E |
possibly damaging |
Het |
Fbxo46 |
G |
C |
7: 18,870,791 (GRCm39) |
R470P |
probably damaging |
Het |
Fbxw20 |
A |
C |
9: 109,050,399 (GRCm39) |
W409G |
probably damaging |
Het |
Gcnt4 |
C |
T |
13: 97,083,493 (GRCm39) |
T263M |
probably benign |
Het |
Gfy |
T |
C |
7: 44,827,251 (GRCm39) |
T282A |
probably benign |
Het |
Glb1l3 |
A |
G |
9: 26,761,351 (GRCm39) |
M227T |
probably damaging |
Het |
Gm8267 |
T |
C |
14: 44,960,346 (GRCm39) |
E133G |
probably damaging |
Het |
Hmcn1 |
A |
C |
1: 150,599,248 (GRCm39) |
I1556R |
possibly damaging |
Het |
Ifnl3 |
T |
C |
7: 28,223,287 (GRCm39) |
V102A |
probably damaging |
Het |
Kifc3 |
C |
T |
8: 95,830,622 (GRCm39) |
R548Q |
possibly damaging |
Het |
Lonrf1 |
T |
A |
8: 36,690,024 (GRCm39) |
Q678L |
probably benign |
Het |
Map2 |
A |
G |
1: 66,454,497 (GRCm39) |
E1129G |
probably damaging |
Het |
Mug2 |
C |
A |
6: 122,028,690 (GRCm39) |
D561E |
probably benign |
Het |
Myo3a |
G |
T |
2: 22,232,383 (GRCm39) |
|
probably benign |
Het |
N4bp1 |
A |
G |
8: 87,587,165 (GRCm39) |
V591A |
probably damaging |
Het |
Nckap5 |
C |
T |
1: 125,952,494 (GRCm39) |
G1353R |
probably benign |
Het |
Nek10 |
T |
A |
14: 14,937,766 (GRCm38) |
H828Q |
probably benign |
Het |
Or52n3 |
T |
A |
7: 104,530,050 (GRCm39) |
C45* |
probably null |
Het |
Or5k1b |
G |
T |
16: 58,581,202 (GRCm39) |
C112* |
probably null |
Het |
Pclo |
T |
C |
5: 14,816,830 (GRCm39) |
S1297P |
|
Het |
Pkhd1l1 |
T |
C |
15: 44,343,009 (GRCm39) |
I162T |
probably damaging |
Het |
Plaat5 |
A |
G |
19: 7,591,923 (GRCm39) |
E113G |
probably damaging |
Het |
Plekhg2 |
T |
C |
7: 28,062,297 (GRCm39) |
E541G |
probably damaging |
Het |
Ppp1r15a |
T |
C |
7: 45,174,149 (GRCm39) |
N220D |
possibly damaging |
Het |
Prss3l |
A |
G |
6: 41,420,486 (GRCm39) |
V80A |
probably benign |
Het |
Psmd4 |
A |
G |
3: 94,940,735 (GRCm39) |
S343P |
probably benign |
Het |
Rnf213 |
A |
T |
11: 119,354,406 (GRCm39) |
H4063L |
|
Het |
Rnf40 |
T |
C |
7: 127,190,954 (GRCm39) |
V313A |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,752,680 (GRCm39) |
E1880D |
probably benign |
Het |
Slc30a4 |
A |
T |
2: 122,527,200 (GRCm39) |
L398I |
probably damaging |
Het |
Sp100 |
A |
T |
1: 85,624,751 (GRCm39) |
N380I |
probably damaging |
Het |
Speer4d |
T |
G |
5: 15,828,393 (GRCm39) |
L175W |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,137,273 (GRCm39) |
I985K |
possibly damaging |
Het |
Tesk2 |
T |
C |
4: 116,658,443 (GRCm39) |
|
probably null |
Het |
Tgfbrap1 |
A |
G |
1: 43,114,608 (GRCm39) |
V164A |
probably damaging |
Het |
Tlk1 |
T |
C |
2: 70,544,341 (GRCm39) |
T765A |
probably benign |
Het |
Tmem207 |
A |
T |
16: 26,345,413 (GRCm39) |
C18S |
|
Het |
Tph2 |
A |
T |
10: 114,915,992 (GRCm39) |
C394S |
probably benign |
Het |
Trrap |
C |
A |
5: 144,763,517 (GRCm39) |
H2470N |
probably damaging |
Het |
Ttc21b |
T |
C |
2: 66,053,866 (GRCm39) |
Y771C |
probably damaging |
Het |
Uchl3 |
T |
C |
14: 101,904,451 (GRCm39) |
F122L |
probably damaging |
Het |
Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
Vmn2r117 |
G |
T |
17: 23,696,578 (GRCm39) |
D276E |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,858,674 (GRCm39) |
L2708P |
probably damaging |
Het |
Vwa3a |
T |
A |
7: 120,385,682 (GRCm39) |
S675T |
possibly damaging |
Het |
Zfp473 |
A |
G |
7: 44,383,766 (GRCm39) |
L189P |
probably benign |
Het |
Zfp956 |
T |
A |
6: 47,941,041 (GRCm39) |
C467S |
probably damaging |
Het |
|
Other mutations in Zgrf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01088:Zgrf1
|
APN |
3 |
127,381,790 (GRCm39) |
splice site |
probably benign |
|
IGL01153:Zgrf1
|
APN |
3 |
127,396,055 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01330:Zgrf1
|
APN |
3 |
127,377,656 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01501:Zgrf1
|
APN |
3 |
127,396,211 (GRCm39) |
splice site |
probably null |
|
IGL01827:Zgrf1
|
APN |
3 |
127,409,930 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02600:Zgrf1
|
APN |
3 |
127,394,623 (GRCm39) |
splice site |
probably benign |
|
IGL03122:Zgrf1
|
APN |
3 |
127,381,782 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03365:Zgrf1
|
APN |
3 |
127,392,423 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0015_Zgrf1_014
|
UTSW |
3 |
127,349,046 (GRCm39) |
splice site |
probably benign |
|
R1298_Zgrf1_204
|
UTSW |
3 |
127,377,538 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7175_zgrf1_533
|
UTSW |
3 |
127,357,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Zgrf1
|
UTSW |
3 |
127,349,046 (GRCm39) |
splice site |
probably benign |
|
R0243:Zgrf1
|
UTSW |
3 |
127,409,095 (GRCm39) |
missense |
probably damaging |
0.99 |
R0468:Zgrf1
|
UTSW |
3 |
127,355,690 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0497:Zgrf1
|
UTSW |
3 |
127,378,299 (GRCm39) |
splice site |
probably benign |
|
R0505:Zgrf1
|
UTSW |
3 |
127,366,887 (GRCm39) |
missense |
probably benign |
0.30 |
R0511:Zgrf1
|
UTSW |
3 |
127,378,309 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0539:Zgrf1
|
UTSW |
3 |
127,408,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R0617:Zgrf1
|
UTSW |
3 |
127,381,687 (GRCm39) |
missense |
probably benign |
0.39 |
R1298:Zgrf1
|
UTSW |
3 |
127,377,538 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1353:Zgrf1
|
UTSW |
3 |
127,405,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R1593:Zgrf1
|
UTSW |
3 |
127,354,675 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1846:Zgrf1
|
UTSW |
3 |
127,409,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R1912:Zgrf1
|
UTSW |
3 |
127,356,786 (GRCm39) |
missense |
probably benign |
|
R2062:Zgrf1
|
UTSW |
3 |
127,406,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R2064:Zgrf1
|
UTSW |
3 |
127,406,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R2065:Zgrf1
|
UTSW |
3 |
127,406,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R2066:Zgrf1
|
UTSW |
3 |
127,406,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Zgrf1
|
UTSW |
3 |
127,406,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R2256:Zgrf1
|
UTSW |
3 |
127,355,646 (GRCm39) |
missense |
probably benign |
0.18 |
R2321:Zgrf1
|
UTSW |
3 |
127,356,056 (GRCm39) |
nonsense |
probably null |
|
R2381:Zgrf1
|
UTSW |
3 |
127,349,863 (GRCm39) |
missense |
probably benign |
0.02 |
R2913:Zgrf1
|
UTSW |
3 |
127,392,356 (GRCm39) |
missense |
possibly damaging |
0.65 |
R3147:Zgrf1
|
UTSW |
3 |
127,377,797 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3236:Zgrf1
|
UTSW |
3 |
127,407,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R3237:Zgrf1
|
UTSW |
3 |
127,407,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R4433:Zgrf1
|
UTSW |
3 |
127,355,727 (GRCm39) |
missense |
probably benign |
|
R4441:Zgrf1
|
UTSW |
3 |
127,379,786 (GRCm39) |
missense |
possibly damaging |
0.45 |
R4457:Zgrf1
|
UTSW |
3 |
127,389,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R4498:Zgrf1
|
UTSW |
3 |
127,379,749 (GRCm39) |
nonsense |
probably null |
|
R4598:Zgrf1
|
UTSW |
3 |
127,394,679 (GRCm39) |
missense |
probably benign |
0.14 |
R4701:Zgrf1
|
UTSW |
3 |
127,392,353 (GRCm39) |
missense |
probably benign |
0.03 |
R4898:Zgrf1
|
UTSW |
3 |
127,396,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R4944:Zgrf1
|
UTSW |
3 |
127,355,517 (GRCm39) |
nonsense |
probably null |
|
R5256:Zgrf1
|
UTSW |
3 |
127,396,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R5294:Zgrf1
|
UTSW |
3 |
127,394,629 (GRCm39) |
missense |
probably benign |
0.14 |
R5358:Zgrf1
|
UTSW |
3 |
127,361,352 (GRCm39) |
critical splice donor site |
probably null |
|
R5359:Zgrf1
|
UTSW |
3 |
127,394,814 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5447:Zgrf1
|
UTSW |
3 |
127,356,768 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5569:Zgrf1
|
UTSW |
3 |
127,354,674 (GRCm39) |
missense |
probably benign |
0.33 |
R5887:Zgrf1
|
UTSW |
3 |
127,378,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R5914:Zgrf1
|
UTSW |
3 |
127,354,672 (GRCm39) |
missense |
probably damaging |
0.99 |
R5925:Zgrf1
|
UTSW |
3 |
127,366,853 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5936:Zgrf1
|
UTSW |
3 |
127,355,902 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6087:Zgrf1
|
UTSW |
3 |
127,409,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R6089:Zgrf1
|
UTSW |
3 |
127,389,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R6181:Zgrf1
|
UTSW |
3 |
127,381,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R6277:Zgrf1
|
UTSW |
3 |
127,392,461 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6441:Zgrf1
|
UTSW |
3 |
127,381,683 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6659:Zgrf1
|
UTSW |
3 |
127,410,155 (GRCm39) |
missense |
probably damaging |
0.99 |
R6857:Zgrf1
|
UTSW |
3 |
127,375,096 (GRCm39) |
missense |
probably damaging |
0.99 |
R6932:Zgrf1
|
UTSW |
3 |
127,353,281 (GRCm39) |
critical splice donor site |
probably null |
|
R7008:Zgrf1
|
UTSW |
3 |
127,355,421 (GRCm39) |
missense |
probably benign |
0.18 |
R7175:Zgrf1
|
UTSW |
3 |
127,357,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R7264:Zgrf1
|
UTSW |
3 |
127,357,218 (GRCm39) |
missense |
probably benign |
0.00 |
R7272:Zgrf1
|
UTSW |
3 |
127,392,409 (GRCm39) |
missense |
probably damaging |
0.99 |
R7298:Zgrf1
|
UTSW |
3 |
127,377,299 (GRCm39) |
nonsense |
probably null |
|
R7412:Zgrf1
|
UTSW |
3 |
127,356,720 (GRCm39) |
missense |
probably benign |
0.06 |
R7836:Zgrf1
|
UTSW |
3 |
127,357,080 (GRCm39) |
missense |
probably damaging |
0.96 |
R7945:Zgrf1
|
UTSW |
3 |
127,356,409 (GRCm39) |
missense |
probably benign |
0.37 |
R7996:Zgrf1
|
UTSW |
3 |
127,389,573 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8165:Zgrf1
|
UTSW |
3 |
127,357,032 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8198:Zgrf1
|
UTSW |
3 |
127,389,673 (GRCm39) |
critical splice donor site |
probably null |
|
R8296:Zgrf1
|
UTSW |
3 |
127,377,644 (GRCm39) |
missense |
probably damaging |
0.99 |
R8298:Zgrf1
|
UTSW |
3 |
127,408,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R8341:Zgrf1
|
UTSW |
3 |
127,354,564 (GRCm39) |
nonsense |
probably null |
|
R8445:Zgrf1
|
UTSW |
3 |
127,379,854 (GRCm39) |
critical splice donor site |
probably null |
|
R9088:Zgrf1
|
UTSW |
3 |
127,377,326 (GRCm39) |
missense |
probably benign |
0.21 |
R9236:Zgrf1
|
UTSW |
3 |
127,378,312 (GRCm39) |
missense |
probably benign |
0.09 |
R9250:Zgrf1
|
UTSW |
3 |
127,379,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R9253:Zgrf1
|
UTSW |
3 |
127,392,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R9647:Zgrf1
|
UTSW |
3 |
127,355,251 (GRCm39) |
missense |
probably benign |
0.02 |
R9680:Zgrf1
|
UTSW |
3 |
127,409,216 (GRCm39) |
missense |
probably benign |
0.38 |
RF015:Zgrf1
|
UTSW |
3 |
127,356,882 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTGCAACTCAACTGCTCC -3'
(R):5'- GGTGTACGAAACAACTATCTGATC -3'
Sequencing Primer
(F):5'- TGCTCCGAACAGACTTGC -3'
(R):5'- TCTGATCAAAAAGTAAACTGTCTCC -3'
|
Posted On |
2022-06-15 |