Incidental Mutation 'R5916:Zkscan5'
| ID |
461320 |
| 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 |
044113-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R5916 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
145141372-145158560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 145142112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 3
(M3K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031601]
[ENSMUST00000031632]
[ENSMUST00000085671]
[ENSMUST00000161896]
[ENSMUST00000198959]
[ENSMUST00000162220]
|
| AlphaFold |
Q9Z1D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031601
AA Change: M3K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000031601
Gene: ENSMUSG00000055991
AA Change: M3K
| 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: ENSMUST00000031632
|
| SMART Domains |
Protein: ENSMUSP00000031632
Gene: ENSMUSG00000029627
| 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 |
possibly damaging
Transcript: ENSMUST00000085671
AA Change: M3K
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000082814
Gene: ENSMUSG00000055991
AA Change: M3K
| 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 |
possibly damaging
Transcript: ENSMUST00000161896
AA Change: M3K
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124838
Gene: ENSMUSG00000055991
AA Change: M3K
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
46 |
155 |
1.59e-62 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162168
|
| 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 |
probably benign
Transcript: ENSMUST00000162220
|
| SMART Domains |
Protein: ENSMUSP00000124196
Gene: ENSMUSG00000029627
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.2%
- 20x: 92.4%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
T |
4: 144,349,550 (GRCm39) |
N269I |
possibly damaging |
Het |
| Abcc1 |
G |
T |
16: 14,283,006 (GRCm39) |
V1161F |
possibly damaging |
Het |
| Adam3 |
A |
T |
8: 25,174,555 (GRCm39) |
|
probably null |
Het |
| Agt |
A |
T |
8: 125,290,597 (GRCm39) |
S237T |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,512,181 (GRCm39) |
F674L |
probably benign |
Het |
| Asb2 |
G |
T |
12: 103,290,135 (GRCm39) |
A504E |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,259,748 (GRCm39) |
I1113N |
probably damaging |
Het |
| Atxn7l2 |
T |
C |
3: 108,112,978 (GRCm39) |
|
probably null |
Het |
| Bambi |
A |
G |
18: 3,511,463 (GRCm39) |
T95A |
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,619,806 (GRCm39) |
M1K |
probably null |
Het |
| Clrn1 |
T |
C |
3: 58,753,783 (GRCm39) |
T193A |
probably benign |
Het |
| Colgalt2 |
T |
A |
1: 152,379,873 (GRCm39) |
D437E |
probably damaging |
Het |
| Dchs1 |
C |
A |
7: 105,408,373 (GRCm39) |
A1820S |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,428,073 (GRCm39) |
I233N |
possibly damaging |
Het |
| Dsc3 |
T |
C |
18: 20,120,077 (GRCm39) |
N194D |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,102,309 (GRCm39) |
|
probably null |
Het |
| Erich3 |
A |
T |
3: 154,401,460 (GRCm39) |
R36S |
probably damaging |
Het |
| Fam243 |
T |
A |
16: 92,117,559 (GRCm39) |
E243V |
probably damaging |
Het |
| Fmnl3 |
A |
T |
15: 99,219,709 (GRCm39) |
C680S |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,275,778 (GRCm39) |
L1129P |
unknown |
Het |
| Fzd3 |
G |
A |
14: 65,440,178 (GRCm39) |
T664I |
probably benign |
Het |
| Glb1l3 |
T |
C |
9: 26,766,032 (GRCm39) |
I129V |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,449,352 (GRCm39) |
F1950S |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,623,188 (GRCm39) |
G597E |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,286,151 (GRCm39) |
V2101D |
probably damaging |
Het |
| Il17re |
T |
A |
6: 113,447,084 (GRCm39) |
C612S |
probably damaging |
Het |
| Il36g |
T |
G |
2: 24,082,806 (GRCm39) |
*194E |
probably null |
Het |
| Junb |
T |
C |
8: 85,704,505 (GRCm39) |
Y185C |
probably benign |
Het |
| Lrriq1 |
G |
A |
10: 103,057,243 (GRCm39) |
Q186* |
probably null |
Het |
| Lrrn2 |
T |
A |
1: 132,865,538 (GRCm39) |
V201E |
probably damaging |
Het |
| Ly6l |
A |
T |
15: 75,323,027 (GRCm39) |
T68S |
probably benign |
Het |
| Marchf1 |
G |
T |
8: 66,839,763 (GRCm39) |
R182L |
possibly damaging |
Het |
| Megf6 |
A |
G |
4: 154,333,882 (GRCm39) |
|
probably null |
Het |
| Mga |
T |
A |
2: 119,794,793 (GRCm39) |
S2708T |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,252,933 (GRCm39) |
T396A |
probably benign |
Het |
| Naip5 |
A |
C |
13: 100,359,209 (GRCm39) |
S676A |
probably benign |
Het |
| Npepl1 |
G |
T |
2: 173,963,337 (GRCm39) |
W456C |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 58,956,543 (GRCm39) |
M1V |
probably null |
Het |
| Nufip1 |
T |
C |
14: 76,372,340 (GRCm39) |
*485Q |
probably null |
Het |
| Ocln |
T |
G |
13: 100,642,687 (GRCm39) |
D216A |
possibly damaging |
Het |
| Or10x1 |
A |
T |
1: 174,196,698 (GRCm39) |
T72S |
probably damaging |
Het |
| Or1o11 |
C |
T |
17: 37,756,570 (GRCm39) |
L53F |
probably benign |
Het |
| Or4f57 |
A |
G |
2: 111,791,175 (GRCm39) |
M81T |
probably damaging |
Het |
| Or55b4 |
G |
A |
7: 102,133,586 (GRCm39) |
S247F |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,359,374 (GRCm39) |
M2243K |
probably damaging |
Het |
| Rad51b |
C |
T |
12: 79,371,856 (GRCm39) |
Q190* |
probably null |
Het |
| Resf1 |
C |
T |
6: 149,228,076 (GRCm39) |
T374I |
probably damaging |
Het |
| Rfx8 |
T |
C |
1: 39,727,779 (GRCm39) |
Y182C |
probably benign |
Het |
| Rpgrip1l |
C |
A |
8: 91,979,541 (GRCm39) |
R967L |
possibly damaging |
Het |
| Scube2 |
A |
G |
7: 109,430,931 (GRCm39) |
Y423H |
possibly damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,195,312 (GRCm39) |
Y809N |
probably damaging |
Het |
| Slc35f1 |
C |
A |
10: 52,809,317 (GRCm39) |
Y101* |
probably null |
Het |
| Tbc1d22a |
A |
G |
15: 86,098,809 (GRCm39) |
K12E |
possibly damaging |
Het |
| Tent2 |
T |
C |
13: 93,312,055 (GRCm39) |
D215G |
probably damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,285,429 (GRCm39) |
V646M |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,398,587 (GRCm39) |
M243K |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,741,513 (GRCm39) |
L732P |
probably damaging |
Het |
| U2af2 |
A |
T |
7: 5,082,179 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
A |
10: 12,540,795 (GRCm39) |
N1877Y |
probably damaging |
Het |
| Vsir |
C |
T |
10: 60,193,816 (GRCm39) |
T93I |
probably damaging |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGAGAAGTGATGACTAACTTCTC -3'
(R):5'- CTGCCTCATGGTACTGGAAG -3'
Sequencing Primer
(F):5'- AAGTGAATGACTTTGTTGAGTGG -3'
(R):5'- CATGGTACTGGAAGTGCTTGAAGC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation