Incidental Mutation 'R4169:Zkscan14'
| ID |
320689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan14
|
| Ensembl Gene |
ENSMUSG00000029627 |
| Gene Name |
zinc finger with KRAB and SCAN domains 14 |
| Synonyms |
Zfp99, 2810437E14Rik, 2310046C23Rik |
| MMRRC Submission |
041010-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.330)
|
| Stock # |
R4169 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145131756-145138678 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 145132985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 182
(T182I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031632]
[ENSMUST00000037056]
[ENSMUST00000161741]
[ENSMUST00000162220]
[ENSMUST00000162360]
[ENSMUST00000198959]
|
| AlphaFold |
Q9Z1D9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031632
AA Change: T182I
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031632
Gene: ENSMUSG00000029627
AA Change: T182I
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
40 |
152 |
6.65e-65 |
SMART |
|
KRAB
|
135 |
196 |
2.79e-13 |
SMART |
|
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
327 |
349 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
4.01e-5 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
411 |
432 |
2.82e0 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
494 |
516 |
1.69e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037056
|
| SMART Domains |
Protein: ENSMUSP00000039726
Gene: ENSMUSG00000038690
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WRW
|
1 |
73 |
1.4e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161741
|
| SMART Domains |
Protein: ENSMUSP00000125504
Gene: ENSMUSG00000038690
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WRW
|
6 |
84 |
2.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162220
AA Change: T48I
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124196
Gene: ENSMUSG00000029627
AA Change: T48I
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
1 |
62 |
2.79e-13 |
SMART |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
193 |
215 |
1.58e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162360
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198959
|
| SMART Domains |
Protein: ENSMUSP00000143630
Gene: ENSMUSG00000029627
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
40 |
143 |
4.29e-59 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200584
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein that inhibits the transcription of mitogen-activated protein kinase signaling pathways. The encoded protein may be involved in cardiac function. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
T |
C |
4: 152,302,250 (GRCm39) |
C121R |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 103,002,157 (GRCm39) |
M546K |
probably damaging |
Het |
| Birc2 |
T |
A |
9: 7,849,684 (GRCm39) |
D535V |
possibly damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,649,325 (GRCm39) |
L9P |
probably benign |
Het |
| Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,479,391 (GRCm39) |
P758L |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,476,549 (GRCm39) |
Y241* |
probably null |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,205,872 (GRCm39) |
T1042A |
possibly damaging |
Het |
| Gm5445 |
A |
G |
13: 12,393,527 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat3 |
T |
C |
5: 18,208,862 (GRCm39) |
F189L |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,837,008 (GRCm39) |
T815A |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,471,750 (GRCm39) |
|
probably null |
Het |
| Hrc |
A |
G |
7: 44,986,181 (GRCm39) |
D444G |
probably benign |
Het |
| Ighv1-53 |
T |
A |
12: 115,122,166 (GRCm39) |
I70F |
possibly damaging |
Het |
| Kat7 |
A |
G |
11: 95,171,298 (GRCm39) |
F469L |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Krt81 |
T |
A |
15: 101,359,193 (GRCm39) |
M242L |
probably benign |
Het |
| Krtap6-1 |
A |
G |
16: 88,828,584 (GRCm39) |
|
probably null |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mthfr-ps1 |
T |
C |
5: 78,622,436 (GRCm39) |
|
noncoding transcript |
Het |
| Nop53 |
A |
T |
7: 15,676,244 (GRCm39) |
W152R |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,591 (GRCm39) |
M62K |
probably damaging |
Het |
| Or6y1 |
T |
A |
1: 174,277,162 (GRCm39) |
S324R |
unknown |
Het |
| Or8s8 |
A |
G |
15: 98,354,878 (GRCm39) |
E229G |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,331,358 (GRCm39) |
N548K |
probably damaging |
Het |
| Pcdhga12 |
A |
G |
18: 37,899,467 (GRCm39) |
I100V |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,183,675 (GRCm39) |
H1743R |
probably benign |
Het |
| Pkdrej |
A |
G |
15: 85,700,515 (GRCm39) |
V1807A |
probably benign |
Het |
| Rabl2 |
T |
C |
15: 89,474,582 (GRCm39) |
M1V |
probably null |
Het |
| Rexo5 |
A |
G |
7: 119,426,621 (GRCm39) |
|
probably benign |
Het |
| Rfng |
C |
G |
11: 120,674,772 (GRCm39) |
G73R |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,188 (GRCm39) |
L459P |
possibly damaging |
Het |
| Samd11 |
T |
A |
4: 156,332,203 (GRCm39) |
D536V |
probably damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,084,032 (GRCm39) |
T451A |
possibly damaging |
Het |
| Snapc1 |
T |
A |
12: 74,029,265 (GRCm39) |
N349K |
probably benign |
Het |
| Sox1ot |
A |
G |
8: 12,480,544 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem178 |
C |
T |
17: 81,252,232 (GRCm39) |
H39Y |
possibly damaging |
Het |
| Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,703,103 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,762,909 (GRCm39) |
D3250G |
probably damaging |
Het |
| Ube2nl |
T |
A |
7: 61,199,380 (GRCm39) |
|
noncoding transcript |
Het |
| Vps25 |
T |
C |
11: 101,144,918 (GRCm39) |
S39P |
probably damaging |
Het |
|
| Other mutations in Zkscan14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01144:Zkscan14
|
APN |
5 |
145,132,806 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02005:Zkscan14
|
APN |
5 |
145,132,419 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1672:Zkscan14
|
UTSW |
5 |
145,138,464 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2166:Zkscan14
|
UTSW |
5 |
145,132,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4789:Zkscan14
|
UTSW |
5 |
145,132,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4853:Zkscan14
|
UTSW |
5 |
145,132,001 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4959:Zkscan14
|
UTSW |
5 |
145,132,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5391:Zkscan14
|
UTSW |
5 |
145,132,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5457:Zkscan14
|
UTSW |
5 |
145,138,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6752:Zkscan14
|
UTSW |
5 |
145,132,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7619:Zkscan14
|
UTSW |
5 |
145,132,169 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7736:Zkscan14
|
UTSW |
5 |
145,132,319 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7952:Zkscan14
|
UTSW |
5 |
145,132,708 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8005:Zkscan14
|
UTSW |
5 |
145,132,568 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8828:Zkscan14
|
UTSW |
5 |
145,138,375 (GRCm39) |
nonsense |
probably null |
|
|
R8910:Zkscan14
|
UTSW |
5 |
145,132,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGACACACCGATGAGAAG -3'
(R):5'- TGACTGGACAGGCAAAGTGC -3'
Sequencing Primer
(F):5'- ATGGCAGTGCGTCCTTGC -3'
(R):5'- AAAGTGCATACCCCTGCTGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation