Incidental Mutation 'R1252:Zkscan4'
| ID |
151811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan4
|
| Ensembl Gene |
ENSMUSG00000054931 |
| Gene Name |
zinc finger with KRAB and SCAN domains 4 |
| Synonyms |
|
| MMRRC Submission |
039319-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R1252 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
21663019-21669677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21668044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 165
(E165G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062609]
[ENSMUST00000076238]
[ENSMUST00000225845]
|
| AlphaFold |
Q5SZT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062609
AA Change: E194G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000054604
Gene: ENSMUSG00000054931
AA Change: E194G
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
47 |
159 |
9.33e-69 |
SMART |
|
ZnF_C2H2
|
253 |
275 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
281 |
303 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
309 |
331 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
337 |
359 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
365 |
387 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
420 |
442 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
448 |
470 |
2.09e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076238
|
| SMART Domains |
Protein: ENSMUSP00000075589
Gene: ENSMUSG00000059459
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
94 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157938
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225845
AA Change: E165G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226034
|
| Meta Mutation Damage Score |
0.2937 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acsm2 |
C |
T |
7: 119,172,468 (GRCm39) |
H104Y |
probably benign |
Het |
| Adgrb3 |
G |
A |
1: 25,167,909 (GRCm39) |
T1009M |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,701,877 (GRCm39) |
K755E |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,367,140 (GRCm39) |
D2491E |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,964,077 (GRCm39) |
S1706P |
probably benign |
Het |
| Capn13 |
C |
T |
17: 73,674,222 (GRCm39) |
G77D |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cdhr18 |
T |
C |
14: 13,862,444 (GRCm38) |
D370G |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,741,962 (GRCm39) |
K133E |
possibly damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,614,585 (GRCm39) |
M314T |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,945,985 (GRCm39) |
D542G |
probably damaging |
Het |
| Dpys |
A |
T |
15: 39,687,636 (GRCm39) |
N387K |
probably damaging |
Het |
| Erc1 |
A |
T |
6: 119,720,353 (GRCm39) |
D749E |
possibly damaging |
Het |
| Gucy2e |
A |
T |
11: 69,126,485 (GRCm39) |
F298L |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,239,269 (GRCm39) |
V304A |
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,279,912 (GRCm39) |
C1363S |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,711 (GRCm39) |
Y295H |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,138,019 (GRCm39) |
V396A |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,345,311 (GRCm39) |
D105G |
probably benign |
Het |
| Lrrc45 |
C |
A |
11: 120,606,297 (GRCm39) |
T135N |
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,212,918 (GRCm39) |
A548T |
probably benign |
Het |
| Nectin2 |
T |
G |
7: 19,451,523 (GRCm39) |
I504L |
probably benign |
Het |
| Nmbr |
T |
C |
10: 14,636,187 (GRCm39) |
I52T |
probably benign |
Het |
| Nop14 |
A |
T |
5: 34,807,899 (GRCm39) |
N354K |
probably benign |
Het |
| Olfm1 |
A |
G |
2: 28,119,447 (GRCm39) |
I361V |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Ovol1 |
T |
C |
19: 5,603,629 (GRCm39) |
T91A |
probably benign |
Het |
| Pigz |
T |
A |
16: 31,760,808 (GRCm39) |
V3E |
possibly damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,635,420 (GRCm39) |
N4S |
probably benign |
Het |
| Slc23a2 |
A |
T |
2: 131,904,117 (GRCm39) |
|
probably null |
Het |
| Slc66a2 |
A |
G |
18: 80,334,813 (GRCm39) |
T211A |
possibly damaging |
Het |
| Speg |
A |
T |
1: 75,403,739 (GRCm39) |
D2640V |
probably damaging |
Het |
| Trip12 |
G |
A |
1: 84,754,071 (GRCm39) |
Q111* |
probably null |
Het |
| Trub2 |
A |
G |
2: 29,672,170 (GRCm39) |
F141S |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,693,729 (GRCm39) |
|
probably null |
Het |
| Zfp935 |
A |
G |
13: 62,602,355 (GRCm39) |
F282L |
probably damaging |
Het |
| Zfp946 |
G |
T |
17: 22,672,560 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Zkscan4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01353:Zkscan4
|
APN |
13 |
21,668,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01358:Zkscan4
|
APN |
13 |
21,668,475 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0107:Zkscan4
|
UTSW |
13 |
21,668,751 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0637:Zkscan4
|
UTSW |
13 |
21,665,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0791:Zkscan4
|
UTSW |
13 |
21,668,081 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1870:Zkscan4
|
UTSW |
13 |
21,668,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4771:Zkscan4
|
UTSW |
13 |
21,663,416 (GRCm39) |
nonsense |
probably null |
|
|
R5080:Zkscan4
|
UTSW |
13 |
21,665,498 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5987:Zkscan4
|
UTSW |
13 |
21,668,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6238:Zkscan4
|
UTSW |
13 |
21,668,757 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6542:Zkscan4
|
UTSW |
13 |
21,668,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6954:Zkscan4
|
UTSW |
13 |
21,668,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7227:Zkscan4
|
UTSW |
13 |
21,668,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7418:Zkscan4
|
UTSW |
13 |
21,668,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7462:Zkscan4
|
UTSW |
13 |
21,668,044 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7549:Zkscan4
|
UTSW |
13 |
21,668,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7750:Zkscan4
|
UTSW |
13 |
21,663,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8051:Zkscan4
|
UTSW |
13 |
21,668,823 (GRCm39) |
missense |
not run |
|
|
R8942:Zkscan4
|
UTSW |
13 |
21,668,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9040:Zkscan4
|
UTSW |
13 |
21,668,229 (GRCm39) |
missense |
probably benign |
|
|
R9297:Zkscan4
|
UTSW |
13 |
21,668,201 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9304:Zkscan4
|
UTSW |
13 |
21,665,570 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
RF049:Zkscan4
|
UTSW |
13 |
21,668,881 (GRCm39) |
frame shift |
probably null |
|
|
T0722:Zkscan4
|
UTSW |
13 |
21,663,370 (GRCm39) |
small deletion |
probably benign |
|
|
T0975:Zkscan4
|
UTSW |
13 |
21,663,370 (GRCm39) |
small deletion |
probably benign |
|
|
Z1088:Zkscan4
|
UTSW |
13 |
21,668,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCATGAATTTCTGCGAGTCCT -3'
(R):5'- TGGCACTCTTCTGTGCTGTCTGTAA -3'
Sequencing Primer
(F):5'- AGATGCCTGCCTAAAGTCTC -3'
(R):5'- TGTGCTGTCTGTAACTTGCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation