Incidental Mutation 'R6857:Zgrf1'
| ID |
535301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zgrf1
|
| Ensembl Gene |
ENSMUSG00000051278 |
| Gene Name |
zinc finger, GRF-type containing 1 |
| Synonyms |
4930422G04Rik |
| MMRRC Submission |
044959-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6857 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
127347138-127411672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127375096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 785
(V785E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043108]
[ENSMUST00000196141]
[ENSMUST00000196341]
[ENSMUST00000199888]
[ENSMUST00000200490]
|
| AlphaFold |
Q0VGT4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043108
AA Change: V785E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044432
Gene: ENSMUSG00000051278
AA Change: V785E
| 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 damaging
Transcript: ENSMUST00000196141
AA Change: V785E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143761
Gene: ENSMUSG00000051278
AA Change: V785E
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143570
Gene: ENSMUSG00000051278
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,110,514 (GRCm39) |
L545P |
possibly damaging |
Het |
| Adam4 |
T |
C |
12: 81,466,723 (GRCm39) |
T633A |
possibly damaging |
Het |
| Ahnak |
C |
T |
19: 9,014,532 (GRCm39) |
Q119* |
probably null |
Het |
| Anxa10 |
C |
A |
8: 62,514,051 (GRCm39) |
A239S |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,729,018 (GRCm39) |
H175L |
probably benign |
Het |
| Best2 |
A |
G |
8: 85,734,452 (GRCm39) |
V422A |
probably benign |
Het |
| Cc2d2b |
T |
C |
19: 40,759,309 (GRCm39) |
F298S |
possibly damaging |
Het |
| Cd38 |
T |
A |
5: 44,063,540 (GRCm39) |
M211K |
probably damaging |
Het |
| Cd3d |
T |
G |
9: 44,896,902 (GRCm39) |
M92R |
probably damaging |
Het |
| Cdk5rap2 |
C |
A |
4: 70,163,633 (GRCm39) |
E1474* |
probably null |
Het |
| Clvs1 |
A |
G |
4: 9,449,433 (GRCm39) |
K341E |
probably benign |
Het |
| Copg2 |
G |
T |
6: 30,840,533 (GRCm39) |
D112E |
possibly damaging |
Het |
| Cspg4b |
A |
T |
13: 113,456,492 (GRCm39) |
N846I |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 49,997,902 (GRCm39) |
N697Y |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,624,981 (GRCm39) |
S3803P |
possibly damaging |
Het |
| Ecpas |
T |
A |
4: 58,814,065 (GRCm39) |
D1347V |
probably damaging |
Het |
| Epx |
T |
A |
11: 87,760,781 (GRCm39) |
K384* |
probably null |
Het |
| Fam135a |
G |
C |
1: 24,053,870 (GRCm39) |
D1222E |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,991,002 (GRCm39) |
H898L |
unknown |
Het |
| Gapvd1 |
A |
G |
2: 34,618,389 (GRCm39) |
I190T |
probably damaging |
Het |
| Hax1 |
T |
G |
3: 89,904,759 (GRCm39) |
S122R |
probably damaging |
Het |
| Hdac9 |
T |
G |
12: 34,443,362 (GRCm39) |
M272L |
probably benign |
Het |
| Itgb7 |
T |
C |
15: 102,131,900 (GRCm39) |
S228G |
probably damaging |
Het |
| Itpr2 |
C |
A |
6: 146,298,517 (GRCm39) |
E315* |
probably null |
Het |
| Kctd8 |
T |
C |
5: 69,454,045 (GRCm39) |
N331D |
probably benign |
Het |
| Ky |
G |
A |
9: 102,419,631 (GRCm39) |
G546E |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,821,023 (GRCm39) |
|
probably null |
Het |
| Mtmr12 |
T |
A |
15: 12,263,918 (GRCm39) |
W427R |
probably damaging |
Het |
| Mxra8 |
A |
G |
4: 155,927,593 (GRCm39) |
K434E |
possibly damaging |
Het |
| Myh4 |
T |
C |
11: 67,140,711 (GRCm39) |
C676R |
possibly damaging |
Het |
| Nek7 |
C |
T |
1: 138,443,420 (GRCm39) |
G178R |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,831 (GRCm39) |
C169S |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,518,307 (GRCm39) |
L182P |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,608 (GRCm39) |
L188H |
probably damaging |
Het |
| Paqr5 |
G |
T |
9: 61,883,370 (GRCm39) |
H41N |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,606,920 (GRCm39) |
L405P |
probably damaging |
Het |
| Plpbp |
A |
G |
8: 27,535,454 (GRCm39) |
N79S |
possibly damaging |
Het |
| Plxnd1 |
G |
T |
6: 115,970,724 (GRCm39) |
A348E |
probably benign |
Het |
| Prdm9 |
T |
C |
17: 15,764,518 (GRCm39) |
Q754R |
probably benign |
Het |
| Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
| Rgs12 |
A |
T |
5: 35,187,366 (GRCm39) |
K213* |
probably null |
Het |
| Serpina3m |
T |
C |
12: 104,355,585 (GRCm39) |
L84P |
probably damaging |
Het |
| Tab2 |
T |
C |
10: 7,796,177 (GRCm39) |
T102A |
possibly damaging |
Het |
| Tagln3 |
G |
T |
16: 45,544,599 (GRCm39) |
A24E |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,801,114 (GRCm39) |
E1110G |
possibly damaging |
Het |
| Tcf3 |
T |
C |
10: 80,252,733 (GRCm39) |
|
probably null |
Het |
| Tmem14a |
T |
C |
1: 21,299,769 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,748,275 (GRCm39) |
E4258V |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,213,362 (GRCm39) |
D5104N |
possibly damaging |
Het |
| Ugt2b37 |
C |
G |
5: 87,388,705 (GRCm39) |
A503P |
probably damaging |
Het |
| Unc45b |
A |
G |
11: 82,804,038 (GRCm39) |
I72V |
probably benign |
Het |
| Vmn1r88 |
A |
T |
7: 12,912,258 (GRCm39) |
M205L |
possibly damaging |
Het |
| Vmn2r109 |
C |
T |
17: 20,760,932 (GRCm39) |
M808I |
probably benign |
Het |
| Wdr72 |
G |
T |
9: 74,062,323 (GRCm39) |
V490L |
probably damaging |
Het |
| Zfp1004 |
G |
T |
2: 150,033,982 (GRCm39) |
C132F |
probably damaging |
Het |
| Zfp998 |
A |
T |
13: 66,580,161 (GRCm39) |
H107Q |
probably benign |
Het |
| Zswim7 |
A |
T |
11: 62,171,955 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R9464:Zgrf1
|
UTSW |
3 |
127,377,741 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- AATGCCACTCACTTCACTATAAGTC -3'
(R):5'- GGTGCACTTGGGAAAGCATC -3'
Sequencing Primer
(F):5'- ACTCACTTCACTATAAGTCCCAATC -3'
(R):5'- GGGTTCCCTGCCATCCATAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation