Incidental Mutation 'R2994:Zfp612'
| ID |
257145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp612
|
| Ensembl Gene |
ENSMUSG00000044676 |
| Gene Name |
zinc finger protein 612 |
| Synonyms |
B230354B21Rik |
| MMRRC Submission |
040529-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2994 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
110806378-110819373 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110816049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 380
(K380E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058804]
[ENSMUST00000165700]
[ENSMUST00000212754]
|
| AlphaFold |
A0A1D5RMC2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058804
AA Change: K380E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000062474
Gene: ENSMUSG00000044676
AA Change: K380E
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
11 |
71 |
2e-32 |
SMART |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
225 |
247 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
2.67e-1 |
SMART |
|
ZnF_C2H2
|
281 |
303 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
309 |
331 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
337 |
359 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
365 |
387 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
393 |
415 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
421 |
443 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
477 |
499 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
505 |
527 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
533 |
555 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
561 |
583 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
589 |
611 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
617 |
639 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
645 |
667 |
1.03e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165700
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212754
AA Change: K419E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,603,538 (GRCm39) |
S577P |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,251,785 (GRCm39) |
T1826A |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Btnl6 |
C |
A |
17: 34,734,498 (GRCm39) |
R88I |
possibly damaging |
Het |
| Cfap52 |
T |
A |
11: 67,830,617 (GRCm39) |
Y281F |
probably benign |
Het |
| CK137956 |
T |
C |
4: 127,845,300 (GRCm39) |
T148A |
probably benign |
Het |
| Fpr3 |
C |
T |
17: 18,191,130 (GRCm39) |
Q134* |
probably null |
Het |
| Gbp4 |
A |
T |
5: 105,284,886 (GRCm39) |
M1K |
probably null |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
A |
G |
9: 72,638,185 (GRCm39) |
D440G |
probably benign |
Het |
| Nlgn1 |
C |
T |
3: 25,490,162 (GRCm39) |
D522N |
probably damaging |
Het |
| Oprk1 |
T |
C |
1: 5,672,955 (GRCm39) |
V364A |
probably benign |
Het |
| Or1e35 |
T |
C |
11: 73,797,541 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or5d18 |
A |
G |
2: 87,865,301 (GRCm39) |
Y61H |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,027,473 (GRCm39) |
|
probably null |
Het |
| Psmd11 |
T |
C |
11: 80,351,493 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,885,610 (GRCm39) |
D576V |
probably damaging |
Het |
| Rundc3a |
C |
T |
11: 102,291,489 (GRCm39) |
T327I |
probably damaging |
Het |
| Sh3rf1 |
A |
G |
8: 61,825,609 (GRCm39) |
T535A |
probably benign |
Het |
| Slc13a2 |
T |
A |
11: 78,295,563 (GRCm39) |
E101V |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,553,802 (GRCm39) |
T406S |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,090,215 (GRCm39) |
E609G |
probably damaging |
Het |
| Zfp459 |
G |
A |
13: 67,556,853 (GRCm39) |
P77S |
possibly damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,228 (GRCm39) |
E527G |
probably damaging |
Het |
|
| Other mutations in Zfp612 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
H8562:Zfp612
|
UTSW |
8 |
110,816,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Zfp612
|
UTSW |
8 |
110,815,095 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4281:Zfp612
|
UTSW |
8 |
110,816,691 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4378:Zfp612
|
UTSW |
8 |
110,815,683 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4492:Zfp612
|
UTSW |
8 |
110,815,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4748:Zfp612
|
UTSW |
8 |
110,815,304 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4890:Zfp612
|
UTSW |
8 |
110,816,576 (GRCm39) |
nonsense |
probably null |
|
|
R5200:Zfp612
|
UTSW |
8 |
110,816,532 (GRCm39) |
nonsense |
probably null |
|
|
R5443:Zfp612
|
UTSW |
8 |
110,816,227 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5864:Zfp612
|
UTSW |
8 |
110,816,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6177:Zfp612
|
UTSW |
8 |
110,816,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6435:Zfp612
|
UTSW |
8 |
110,815,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6601:Zfp612
|
UTSW |
8 |
110,816,181 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7082:Zfp612
|
UTSW |
8 |
110,816,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Zfp612
|
UTSW |
8 |
110,815,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8837:Zfp612
|
UTSW |
8 |
110,815,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9323:Zfp612
|
UTSW |
8 |
110,815,372 (GRCm39) |
missense |
probably benign |
|
|
R9394:Zfp612
|
UTSW |
8 |
110,810,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF007:Zfp612
|
UTSW |
8 |
110,816,174 (GRCm39) |
nonsense |
probably null |
|
|
RF008:Zfp612
|
UTSW |
8 |
110,816,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zfp612
|
UTSW |
8 |
110,815,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTGTGGGAAAGCCTTCAAT -3'
(R):5'- TTCCCACACTCGCTACATTG -3'
Sequencing Primer
(F):5'- CTGTGGGAAAGCCTTCAATGTTAACG -3'
(R):5'- ACTCCTTGCATTCGAAGGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation