Incidental Mutation 'R8756:Zfp37'
| ID |
664158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp37
|
| Ensembl Gene |
ENSMUSG00000028389 |
| Gene Name |
zinc finger protein 37 |
| Synonyms |
Zfp-37, Tzn |
| MMRRC Submission |
068597-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.373)
|
| Stock # |
R8756 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
62107774-62127634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62110371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 272
(D272G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068822]
[ENSMUST00000129511]
[ENSMUST00000220873]
[ENSMUST00000221329]
[ENSMUST00000222050]
[ENSMUST00000222748]
|
| AlphaFold |
P17141 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068822
AA Change: D272G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000070463
Gene: ENSMUSG00000028389
AA Change: D272G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
62 |
5.89e-12 |
SMART |
|
low complexity region
|
113 |
122 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
255 |
277 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
283 |
305 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
311 |
333 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
339 |
361 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
367 |
389 |
1.13e-4 |
SMART |
|
ZnF_C2H2
|
395 |
417 |
9.88e-5 |
SMART |
|
ZnF_C2H2
|
423 |
445 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
451 |
473 |
6.08e-5 |
SMART |
|
ZnF_C2H2
|
479 |
501 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
507 |
529 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
535 |
557 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
563 |
585 |
9.88e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129511
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220873
AA Change: D231G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221329
AA Change: D269G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222050
AA Change: D268G
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222748
AA Change: D231G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that belongs to a large family of zinc finger proteins. A similar protein in mouse is thought to play a role in regulating the structures of the nucleolus and centromere in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
All alleles(4) : Gene trapped(4)
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxr1 |
A |
T |
6: 87,165,235 (GRCm39) |
S401T |
probably damaging |
Het |
| Armh1 |
T |
A |
4: 117,094,861 (GRCm39) |
I60L |
probably benign |
Het |
| Atp8b5 |
T |
C |
4: 43,342,439 (GRCm39) |
V370A |
probably damaging |
Het |
| Atraid |
T |
A |
5: 31,211,385 (GRCm39) |
Y184N |
probably damaging |
Het |
| Cp |
G |
C |
3: 20,059,736 (GRCm39) |
|
probably null |
Het |
| Crebbp |
A |
G |
16: 3,903,767 (GRCm39) |
I1824T |
probably benign |
Het |
| Cyp2c65 |
A |
T |
19: 39,049,552 (GRCm39) |
R27* |
probably null |
Het |
| Dtl |
T |
C |
1: 191,271,371 (GRCm39) |
H725R |
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,583,261 (GRCm39) |
A453S |
probably benign |
Het |
| Fat3 |
T |
A |
9: 16,287,885 (GRCm39) |
D546V |
probably damaging |
Het |
| Flt1 |
T |
C |
5: 147,576,224 (GRCm39) |
T595A |
probably benign |
Het |
| Gtf2ird2 |
C |
T |
5: 134,226,090 (GRCm39) |
P179S |
possibly damaging |
Het |
| Hoga1 |
A |
G |
19: 42,048,716 (GRCm39) |
I145V |
probably benign |
Het |
| Igfn1 |
G |
T |
1: 135,895,698 (GRCm39) |
Q1623K |
probably benign |
Het |
| Jsrp1 |
T |
A |
10: 80,647,940 (GRCm39) |
|
probably null |
Het |
| Krt90 |
A |
C |
15: 101,470,779 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
T |
A |
16: 32,808,810 (GRCm39) |
S514T |
probably benign |
Het |
| Mad2l1 |
T |
C |
6: 66,512,569 (GRCm39) |
V20A |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 15,757,706 (GRCm39) |
|
probably null |
Het |
| Matn2 |
A |
C |
15: 34,423,876 (GRCm39) |
E578A |
possibly damaging |
Het |
| Myof |
A |
T |
19: 37,928,400 (GRCm39) |
W1050R |
probably benign |
Het |
| Nemp1 |
T |
A |
10: 127,528,845 (GRCm39) |
I183N |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,683,386 (GRCm39) |
T1155A |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,461,506 (GRCm39) |
S2681P |
probably benign |
Het |
| Onecut3 |
C |
A |
10: 80,349,750 (GRCm39) |
R415S |
probably damaging |
Het |
| Or2d2 |
T |
C |
7: 106,728,019 (GRCm39) |
T194A |
probably benign |
Het |
| Or4s2 |
T |
A |
2: 88,473,183 (GRCm39) |
V24E |
possibly damaging |
Het |
| Pclo |
T |
A |
5: 14,764,398 (GRCm39) |
S1005R |
|
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,552,073 (GRCm39) |
V357M |
probably damaging |
Het |
| Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
| Serpinh1 |
A |
G |
7: 98,996,359 (GRCm39) |
Y242H |
probably damaging |
Het |
| Slit2 |
G |
T |
5: 48,459,829 (GRCm39) |
E1370* |
probably null |
Het |
| Sos2 |
C |
A |
12: 69,695,310 (GRCm39) |
L142F |
probably damaging |
Het |
| Spag4 |
T |
C |
2: 155,908,493 (GRCm39) |
L141P |
possibly damaging |
Het |
| Sun1 |
T |
C |
5: 139,222,444 (GRCm39) |
L570P |
probably damaging |
Het |
| Tars2 |
A |
G |
3: 95,648,672 (GRCm39) |
V662A |
probably benign |
Het |
| Tmem245 |
C |
A |
4: 56,899,025 (GRCm39) |
|
probably null |
Het |
| Tpp2 |
T |
A |
1: 43,999,295 (GRCm39) |
Y356* |
probably null |
Het |
| Trafd1 |
T |
C |
5: 121,513,878 (GRCm39) |
E303G |
probably damaging |
Het |
| Trim71 |
T |
C |
9: 114,342,605 (GRCm39) |
E559G |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,644,141 (GRCm39) |
V4501E |
possibly damaging |
Het |
| Vegfa |
T |
C |
17: 46,342,465 (GRCm39) |
T118A |
probably damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,294,094 (GRCm39) |
H727L |
probably benign |
Het |
| Zdhhc2 |
T |
A |
8: 40,920,551 (GRCm39) |
V270E |
probably damaging |
Het |
| Zfp112 |
T |
C |
7: 23,824,997 (GRCm39) |
S326P |
probably benign |
Het |
|
| Other mutations in Zfp37 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02742:Zfp37
|
APN |
4 |
62,110,548 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
B6584:Zfp37
|
UTSW |
4 |
62,109,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0383:Zfp37
|
UTSW |
4 |
62,110,122 (GRCm39) |
start codon destroyed |
probably null |
0.61 |
|
R0457:Zfp37
|
UTSW |
4 |
62,109,902 (GRCm39) |
nonsense |
probably null |
|
|
R1258:Zfp37
|
UTSW |
4 |
62,110,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Zfp37
|
UTSW |
4 |
62,109,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Zfp37
|
UTSW |
4 |
62,109,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2261:Zfp37
|
UTSW |
4 |
62,109,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2262:Zfp37
|
UTSW |
4 |
62,109,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2507:Zfp37
|
UTSW |
4 |
62,109,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Zfp37
|
UTSW |
4 |
62,110,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2898:Zfp37
|
UTSW |
4 |
62,110,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Zfp37
|
UTSW |
4 |
62,110,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3879:Zfp37
|
UTSW |
4 |
62,109,572 (GRCm39) |
nonsense |
probably null |
|
|
R4034:Zfp37
|
UTSW |
4 |
62,109,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Zfp37
|
UTSW |
4 |
62,110,365 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4823:Zfp37
|
UTSW |
4 |
62,109,740 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5186:Zfp37
|
UTSW |
4 |
62,109,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5650:Zfp37
|
UTSW |
4 |
62,110,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5886:Zfp37
|
UTSW |
4 |
62,109,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5925:Zfp37
|
UTSW |
4 |
62,109,450 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7050:Zfp37
|
UTSW |
4 |
62,109,908 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7553:Zfp37
|
UTSW |
4 |
62,110,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Zfp37
|
UTSW |
4 |
62,110,253 (GRCm39) |
start gained |
probably benign |
|
|
R7646:Zfp37
|
UTSW |
4 |
62,109,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8061:Zfp37
|
UTSW |
4 |
62,109,665 (GRCm39) |
nonsense |
probably null |
|
|
R8076:Zfp37
|
UTSW |
4 |
62,109,553 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8477:Zfp37
|
UTSW |
4 |
62,110,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9000:Zfp37
|
UTSW |
4 |
62,126,651 (GRCm39) |
missense |
unknown |
|
|
R9362:Zfp37
|
UTSW |
4 |
62,110,299 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9400:Zfp37
|
UTSW |
4 |
62,109,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Zfp37
|
UTSW |
4 |
62,110,644 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
X0026:Zfp37
|
UTSW |
4 |
62,123,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCACATTCATTACATTTGTAGGG -3'
(R):5'- TGTGAGAAAGTATGCCGTCATAG -3'
Sequencing Primer
(F):5'- CCAGTATGGATTCTTAGATGGTCAG -3'
(R):5'- GAAAGTATGCCGTCATAGTGCATCC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation