Incidental Mutation 'R6692:Zkscan5'
| ID |
527910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zkscan5
|
| Ensembl Gene |
ENSMUSG00000055991 |
| Gene Name |
zinc finger with KRAB and SCAN domains 5 |
| Synonyms |
hKraba1, Zfp95 |
| MMRRC Submission |
044810-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R6692 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145141372-145158560 bp(+) (GRCm39) |
| Type of Mutation |
splice site (2604 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 145157894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031601]
[ENSMUST00000085671]
[ENSMUST00000161896]
|
| AlphaFold |
Q9Z1D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031601
AA Change: M726V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000031601
Gene: ENSMUSG00000055991
AA Change: M726V
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
46 |
155 |
2.18e-69 |
SMART |
|
ZnF_C2H2
|
268 |
290 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
296 |
318 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
324 |
346 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
467 |
489 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
495 |
517 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
523 |
545 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
551 |
573 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
579 |
601 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
635 |
657 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
691 |
713 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
719 |
741 |
2.4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085671
AA Change: M799V
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000082814
Gene: ENSMUSG00000055991
AA Change: M799V
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
46 |
155 |
2.18e-69 |
SMART |
|
KRAB
|
216 |
276 |
5.35e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
540 |
562 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
568 |
590 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
596 |
618 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
624 |
646 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
652 |
674 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
708 |
730 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
764 |
786 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
792 |
814 |
2.4e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160162
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161881
|
| SMART Domains |
Protein: ENSMUSP00000124544
Gene: ENSMUSG00000055991
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
59 |
118 |
2.71e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161896
|
| SMART Domains |
Protein: ENSMUSP00000124838
Gene: ENSMUSG00000055991
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
46 |
155 |
1.59e-62 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162168
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain and may be involved in transcriptional regulation. A similar protein in mouse is differentially expressed in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahcyl1 |
C |
T |
3: 107,582,401 (GRCm39) |
G54D |
probably damaging |
Het |
| Aldh1b1 |
T |
C |
4: 45,803,427 (GRCm39) |
C322R |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,363,377 (GRCm39) |
I258V |
probably damaging |
Het |
| Cenph |
T |
C |
13: 100,909,243 (GRCm39) |
I55V |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,405,006 (GRCm39) |
|
probably null |
Het |
| Ces2b |
A |
G |
8: 105,563,919 (GRCm39) |
Y431C |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,725,950 (GRCm39) |
S28P |
possibly damaging |
Het |
| Cyp4f40 |
C |
G |
17: 32,894,716 (GRCm39) |
T427S |
possibly damaging |
Het |
| Exoc2 |
A |
G |
13: 31,119,490 (GRCm39) |
I137T |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,384,335 (GRCm39) |
D168E |
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,072,696 (GRCm39) |
L376H |
probably damaging |
Het |
| Kdm4d |
A |
T |
9: 14,374,361 (GRCm39) |
M499K |
probably benign |
Het |
| Lonp1 |
C |
T |
17: 56,926,230 (GRCm39) |
V426M |
probably damaging |
Het |
| Lypla2 |
C |
A |
4: 135,698,173 (GRCm39) |
A26S |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,723,987 (GRCm39) |
V323A |
possibly damaging |
Het |
| Mdfic2 |
T |
G |
6: 98,225,169 (GRCm39) |
H38P |
possibly damaging |
Het |
| Mov10 |
A |
G |
3: 104,725,360 (GRCm39) |
L83P |
probably damaging |
Het |
| Mphosph9 |
G |
T |
5: 124,398,179 (GRCm39) |
A1039D |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,534,199 (GRCm39) |
K317R |
possibly damaging |
Het |
| Or10ag55-ps1 |
A |
G |
2: 87,139,336 (GRCm39) |
T68A |
possibly damaging |
Het |
| Pde3a |
T |
A |
6: 141,425,072 (GRCm39) |
S623T |
probably damaging |
Het |
| Pld1 |
T |
A |
3: 28,095,348 (GRCm39) |
M227K |
probably benign |
Het |
| Rell1 |
T |
G |
5: 64,095,210 (GRCm39) |
K85N |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,165,652 (GRCm39) |
T93A |
probably damaging |
Het |
| Sccpdh |
T |
A |
1: 179,511,792 (GRCm39) |
M88K |
possibly damaging |
Het |
| Siae |
T |
G |
9: 37,554,095 (GRCm39) |
|
probably null |
Het |
| Slc22a16 |
G |
A |
10: 40,479,901 (GRCm39) |
E637K |
unknown |
Het |
| Stk19 |
C |
T |
17: 35,043,770 (GRCm39) |
G95S |
probably benign |
Het |
| Stpg2 |
G |
A |
3: 139,228,738 (GRCm39) |
|
probably null |
Het |
| Sult2a5 |
T |
A |
7: 13,358,057 (GRCm39) |
F30I |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,082,853 (GRCm39) |
E748G |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,869,126 (GRCm39) |
H306Q |
probably benign |
Het |
| Try10 |
G |
A |
6: 41,334,755 (GRCm39) |
G227D |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,726,713 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,749,436 (GRCm39) |
H3871L |
probably benign |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,745 (GRCm39) |
I57V |
possibly damaging |
Het |
| Vpreb1a |
A |
G |
16: 16,686,666 (GRCm39) |
S75P |
probably damaging |
Het |
|
| Other mutations in Zkscan5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03080:Zkscan5
|
APN |
5 |
145,155,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0401:Zkscan5
|
UTSW |
5 |
145,149,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0458:Zkscan5
|
UTSW |
5 |
145,142,281 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1456:Zkscan5
|
UTSW |
5 |
145,157,798 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1801:Zkscan5
|
UTSW |
5 |
145,157,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2269:Zkscan5
|
UTSW |
5 |
145,142,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2426:Zkscan5
|
UTSW |
5 |
145,157,750 (GRCm39) |
missense |
probably benign |
|
|
R3085:Zkscan5
|
UTSW |
5 |
145,157,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Zkscan5
|
UTSW |
5 |
145,149,437 (GRCm39) |
missense |
probably benign |
|
|
R3725:Zkscan5
|
UTSW |
5 |
145,157,723 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4479:Zkscan5
|
UTSW |
5 |
145,147,984 (GRCm39) |
intron |
probably benign |
|
|
R4647:Zkscan5
|
UTSW |
5 |
145,155,640 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5292:Zkscan5
|
UTSW |
5 |
145,155,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Zkscan5
|
UTSW |
5 |
145,156,898 (GRCm39) |
missense |
probably benign |
|
|
R5873:Zkscan5
|
UTSW |
5 |
145,157,204 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5916:Zkscan5
|
UTSW |
5 |
145,142,112 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7092:Zkscan5
|
UTSW |
5 |
145,156,899 (GRCm39) |
missense |
probably benign |
|
|
R7114:Zkscan5
|
UTSW |
5 |
145,147,988 (GRCm39) |
intron |
probably benign |
|
|
R7403:Zkscan5
|
UTSW |
5 |
145,155,403 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7719:Zkscan5
|
UTSW |
5 |
145,157,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7741:Zkscan5
|
UTSW |
5 |
145,157,847 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7751:Zkscan5
|
UTSW |
5 |
145,157,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7829:Zkscan5
|
UTSW |
5 |
145,155,513 (GRCm39) |
nonsense |
probably null |
|
|
R7874:Zkscan5
|
UTSW |
5 |
145,157,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7875:Zkscan5
|
UTSW |
5 |
145,157,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7876:Zkscan5
|
UTSW |
5 |
145,157,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Zkscan5
|
UTSW |
5 |
145,157,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7884:Zkscan5
|
UTSW |
5 |
145,157,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7899:Zkscan5
|
UTSW |
5 |
145,157,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7902:Zkscan5
|
UTSW |
5 |
145,157,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Zkscan5
|
UTSW |
5 |
145,144,502 (GRCm39) |
missense |
unknown |
|
|
R8729:Zkscan5
|
UTSW |
5 |
145,157,071 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8778:Zkscan5
|
UTSW |
5 |
145,155,142 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9569:Zkscan5
|
UTSW |
5 |
145,144,419 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9669:Zkscan5
|
UTSW |
5 |
145,142,136 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9737:Zkscan5
|
UTSW |
5 |
145,142,136 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACTCACTCTGCGGAGAAAC -3'
(R):5'- TAAGCTCTACCTGACAGGGC -3'
Sequencing Primer
(F):5'- CTGCGGAGAAACCCCAG -3'
(R):5'- TACCTGACAGGGCTTCCC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation