Incidental Mutation 'IGL03080:Zkscan5'
| ID |
417821 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zkscan5
|
| Ensembl Gene |
ENSMUSG00000055991 |
| Gene Name |
zinc finger with KRAB and SCAN domains 5 |
| Synonyms |
hKraba1, Zfp95 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
IGL03080
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
145141372-145158560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 145155460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 377
(S377I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031601]
[ENSMUST00000085671]
[ENSMUST00000161896]
|
| AlphaFold |
Q9Z1D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031601
AA Change: S304I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031601
Gene: ENSMUSG00000055991
AA Change: S304I
| 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 damaging
Transcript: ENSMUST00000085671
AA Change: S377I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000082814
Gene: ENSMUSG00000055991
AA Change: S377I
| 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 benign
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 |
|
| Validation Efficiency |
|
| 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 |
|---|
| Abce1 |
T |
C |
8: 80,429,630 (GRCm39) |
|
probably null |
Het |
| Adgrf3 |
T |
C |
5: 30,401,827 (GRCm39) |
M734V |
probably benign |
Het |
| Aqp8 |
T |
G |
7: 123,065,802 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
A |
G |
6: 106,632,500 (GRCm39) |
D508G |
probably damaging |
Het |
| Cyp11b1 |
A |
T |
15: 74,711,285 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,937,980 (GRCm39) |
D1619G |
probably benign |
Het |
| Eif1ad17 |
A |
T |
12: 87,978,615 (GRCm39) |
|
probably benign |
Het |
| Ephb4 |
T |
A |
5: 137,352,345 (GRCm39) |
|
probably benign |
Het |
| Ffar3 |
A |
T |
7: 30,554,747 (GRCm39) |
V191E |
probably damaging |
Het |
| Galnt1 |
T |
A |
18: 24,402,574 (GRCm39) |
D310E |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,945,563 (GRCm39) |
Y342C |
probably benign |
Het |
| Jade1 |
T |
A |
3: 41,554,510 (GRCm39) |
C251* |
probably null |
Het |
| Jhy |
T |
C |
9: 40,855,653 (GRCm39) |
E278G |
probably damaging |
Het |
| Kif24 |
A |
C |
4: 41,394,417 (GRCm39) |
S819A |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,712,996 (GRCm39) |
L344P |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,810,153 (GRCm39) |
T375A |
probably benign |
Het |
| Mbd3 |
C |
T |
10: 80,229,085 (GRCm39) |
R204Q |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,500,663 (GRCm39) |
N143S |
possibly damaging |
Het |
| Nkiras2 |
T |
C |
11: 100,515,105 (GRCm39) |
|
probably null |
Het |
| Or7e174 |
A |
T |
9: 20,012,705 (GRCm39) |
I217F |
probably damaging |
Het |
| Palm |
C |
A |
10: 79,654,951 (GRCm39) |
H74Q |
probably damaging |
Het |
| Pros1 |
T |
A |
16: 62,738,506 (GRCm39) |
N408K |
probably damaging |
Het |
| Psg23 |
T |
A |
7: 18,340,910 (GRCm39) |
Y448F |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,312,613 (GRCm39) |
P1111Q |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,399,299 (GRCm39) |
S1115G |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,528,160 (GRCm39) |
T777A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,816 (GRCm39) |
D428G |
probably damaging |
Het |
| Stard3nl |
A |
T |
13: 19,554,648 (GRCm39) |
|
probably null |
Het |
| Sult1d1 |
T |
C |
5: 87,704,847 (GRCm39) |
D214G |
probably benign |
Het |
| Tmprss12 |
T |
C |
15: 100,190,529 (GRCm39) |
W300R |
probably damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,398,044 (GRCm39) |
Y44C |
probably damaging |
Het |
| Ttk |
A |
G |
9: 83,725,136 (GRCm39) |
N154D |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,363,021 (GRCm39) |
S444R |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,295,896 (GRCm39) |
Y108H |
probably damaging |
Het |
| Vmn2r44 |
C |
A |
7: 8,386,244 (GRCm39) |
|
probably benign |
Het |
| Zfand1 |
A |
G |
3: 10,405,797 (GRCm39) |
*269Q |
probably null |
Het |
| Zfp142 |
A |
T |
1: 74,610,368 (GRCm39) |
D1039E |
probably benign |
Het |
|
| Other mutations in Zkscan5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6692:Zkscan5
|
UTSW |
5 |
145,157,894 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation