Incidental Mutation 'R7008:Zgrf1'
ID |
544815 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zgrf1
|
Ensembl Gene |
ENSMUSG00000051278 |
Gene Name |
zinc finger, GRF-type containing 1 |
Synonyms |
4930422G04Rik |
MMRRC Submission |
045110-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R7008 (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 C
at 127355421 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 216
(F216L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143585
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043108]
[ENSMUST00000195955]
[ENSMUST00000196141]
[ENSMUST00000199888]
[ENSMUST00000200490]
|
AlphaFold |
Q0VGT4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043108
AA Change: F216L
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000044432 Gene: ENSMUSG00000051278 AA Change: F216L
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: ENSMUST00000195955
AA Change: F216L
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000142886 Gene: ENSMUSG00000051278 AA Change: F216L
Domain | Start | End | E-Value | Type |
Pfam:DUF2439
|
3 |
82 |
1.6e-25 |
PFAM |
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
low complexity region
|
628 |
639 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196141
AA Change: F216L
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000143761 Gene: ENSMUSG00000051278 AA Change: F216L
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: ENSMUST00000199888
AA Change: F216L
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000142693 Gene: ENSMUSG00000051278 AA Change: F216L
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
AA Change: F216L
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000143585 Gene: ENSMUSG00000051278 AA Change: F216L
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
T |
A |
5: 90,407,955 (GRCm39) |
I1421F |
possibly damaging |
Het |
Arhgef11 |
C |
A |
3: 87,636,525 (GRCm39) |
T992K |
possibly damaging |
Het |
Arid1b |
T |
C |
17: 5,341,254 (GRCm39) |
Y853H |
probably damaging |
Het |
Bcl10 |
G |
T |
3: 145,639,054 (GRCm39) |
R232L |
probably benign |
Het |
Best2 |
T |
A |
8: 85,739,840 (GRCm39) |
I76F |
possibly damaging |
Het |
Card11 |
G |
C |
5: 140,859,148 (GRCm39) |
R1133G |
probably damaging |
Het |
Card9 |
T |
C |
2: 26,247,811 (GRCm39) |
D180G |
possibly damaging |
Het |
Ccdc162 |
T |
A |
10: 41,428,411 (GRCm39) |
E119V |
probably damaging |
Het |
Ccdc168 |
T |
C |
1: 44,098,785 (GRCm39) |
D771G |
probably benign |
Het |
Cd2bp2 |
T |
C |
7: 126,794,567 (GRCm39) |
D15G |
possibly damaging |
Het |
Cdk7 |
A |
C |
13: 100,854,129 (GRCm39) |
M120R |
probably damaging |
Het |
Cryba4 |
T |
A |
5: 112,399,648 (GRCm39) |
T2S |
probably benign |
Het |
Cyp19a1 |
A |
T |
9: 54,100,609 (GRCm39) |
M26K |
probably benign |
Het |
Dgcr2 |
A |
G |
16: 17,662,865 (GRCm39) |
S157P |
probably damaging |
Het |
Dis3l |
A |
G |
9: 64,217,735 (GRCm39) |
F782S |
possibly damaging |
Het |
Ephb4 |
T |
A |
5: 137,359,536 (GRCm39) |
S369T |
probably benign |
Het |
Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
H1f4 |
T |
C |
13: 23,806,192 (GRCm39) |
K97E |
probably damaging |
Het |
Igf2bp2 |
A |
T |
16: 21,900,582 (GRCm39) |
D118E |
probably benign |
Het |
Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
Klhl5 |
T |
C |
5: 65,300,592 (GRCm39) |
S52P |
probably benign |
Het |
Lrrc28 |
A |
T |
7: 67,245,459 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
T |
G |
1: 40,028,131 (GRCm39) |
D317E |
probably benign |
Het |
Maz |
A |
T |
7: 126,623,784 (GRCm39) |
C66S |
probably damaging |
Het |
Mbd4 |
T |
C |
6: 115,827,685 (GRCm39) |
T43A |
possibly damaging |
Het |
Milr1 |
T |
A |
11: 106,642,140 (GRCm39) |
S11T |
probably damaging |
Het |
Mthfd2l |
T |
A |
5: 91,107,587 (GRCm39) |
C150S |
probably damaging |
Het |
Nemf |
A |
T |
12: 69,388,395 (GRCm39) |
N325K |
possibly damaging |
Het |
Nemf |
C |
T |
12: 69,400,567 (GRCm39) |
|
probably null |
Het |
Nod2 |
T |
A |
8: 89,390,285 (GRCm39) |
C197* |
probably null |
Het |
Odf2l |
A |
G |
3: 144,838,495 (GRCm39) |
K241E |
probably damaging |
Het |
Or4z4 |
G |
A |
19: 12,076,214 (GRCm39) |
T263I |
possibly damaging |
Het |
Or5b124 |
A |
T |
19: 13,610,985 (GRCm39) |
N170I |
probably damaging |
Het |
Osbpl10 |
T |
G |
9: 114,890,916 (GRCm39) |
D101E |
probably damaging |
Het |
Osgin1 |
T |
C |
8: 120,168,233 (GRCm39) |
V20A |
possibly damaging |
Het |
Pan3 |
T |
A |
5: 147,482,503 (GRCm39) |
C438S |
probably damaging |
Het |
Plaa |
A |
G |
4: 94,457,586 (GRCm39) |
*795Q |
probably null |
Het |
Prss35 |
T |
C |
9: 86,638,361 (GRCm39) |
V377A |
probably benign |
Het |
Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
Rdh16f1 |
A |
G |
10: 127,626,775 (GRCm39) |
H276R |
probably benign |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Sez6l |
T |
C |
5: 112,612,561 (GRCm39) |
Y460C |
probably damaging |
Het |
Sipa1l1 |
T |
G |
12: 82,409,886 (GRCm39) |
M600R |
probably damaging |
Het |
Slc11a2 |
T |
C |
15: 100,307,205 (GRCm39) |
Y92C |
probably damaging |
Het |
Slc4a10 |
A |
G |
2: 62,117,266 (GRCm39) |
T712A |
probably benign |
Het |
Sntb1 |
A |
T |
15: 55,655,468 (GRCm39) |
Y249* |
probably null |
Het |
Spatc1 |
A |
G |
15: 76,167,923 (GRCm39) |
I127M |
probably benign |
Het |
Sting1 |
C |
A |
18: 35,868,224 (GRCm39) |
R292L |
probably damaging |
Het |
Synj1 |
A |
T |
16: 90,790,833 (GRCm39) |
N109K |
probably damaging |
Het |
Tdg |
T |
A |
10: 82,484,475 (GRCm39) |
M396K |
possibly damaging |
Het |
Tmem252 |
T |
C |
19: 24,651,656 (GRCm39) |
V75A |
probably damaging |
Het |
Trim40 |
T |
C |
17: 37,194,868 (GRCm39) |
Q142R |
probably damaging |
Het |
Trip6 |
T |
C |
5: 137,311,228 (GRCm39) |
T163A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,724,986 (GRCm39) |
|
probably benign |
Het |
Wdr95 |
T |
C |
5: 149,535,005 (GRCm39) |
L721P |
probably benign |
Het |
Zfp385c |
A |
T |
11: 100,521,513 (GRCm39) |
D182E |
probably damaging |
Het |
Zfp597 |
A |
G |
16: 3,683,631 (GRCm39) |
F375S |
probably benign |
Het |
Zfp658 |
T |
G |
7: 43,223,336 (GRCm39) |
F537C |
possibly 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 |
|
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'- TCACTTGGTGATGAGAACCC -3'
(R):5'- CACCATGCAGATCCTTCCTG -3'
Sequencing Primer
(F):5'- TTGGTGATGAGAACCCTGGCC -3'
(R):5'- CATGCAGATCCTTCCTGTTAGTTGAG -3'
|
Posted On |
2019-05-13 |