Incidental Mutation 'R4479:Zkscan5'
| ID |
331391 |
| 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 |
041736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R4479 (G1)
|
| Quality Score |
161 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145141372-145158560 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 145147984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031601]
[ENSMUST00000085671]
[ENSMUST00000161896]
|
| AlphaFold |
Q9Z1D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031601
|
| SMART Domains |
Protein: ENSMUSP00000031601
Gene: ENSMUSG00000055991
| 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
|
| SMART Domains |
Protein: ENSMUSP00000082814
Gene: ENSMUSG00000055991
| 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 |
unknown
Transcript: ENSMUST00000162168
AA Change: V41A
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
95% (36/38) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,654,663 (GRCm39) |
T553A |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,301,326 (GRCm39) |
R66H |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 89,885,754 (GRCm39) |
E150G |
probably damaging |
Het |
| Chp2 |
A |
G |
7: 121,820,141 (GRCm39) |
D97G |
probably benign |
Het |
| Cnbd2 |
T |
C |
2: 156,175,573 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dusp15 |
A |
G |
2: 152,786,102 (GRCm39) |
L135P |
probably damaging |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Erlin2 |
G |
T |
8: 27,515,127 (GRCm39) |
V10L |
probably benign |
Het |
| F830104G03Rik |
A |
G |
3: 56,797,634 (GRCm39) |
S98P |
unknown |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
| Ighv1-22 |
G |
T |
12: 114,710,283 (GRCm39) |
A15E |
possibly damaging |
Het |
| Ints4 |
T |
C |
7: 97,134,178 (GRCm39) |
S37P |
probably damaging |
Het |
| Irs1 |
G |
A |
1: 82,265,015 (GRCm39) |
T1067I |
probably damaging |
Het |
| Lrrc28 |
C |
T |
7: 67,181,362 (GRCm39) |
|
probably null |
Het |
| Or10v1 |
A |
G |
19: 11,873,922 (GRCm39) |
Y179C |
probably damaging |
Het |
| Or4a71 |
A |
G |
2: 89,358,514 (GRCm39) |
I80T |
possibly damaging |
Het |
| Or5ac24 |
G |
A |
16: 59,165,230 (GRCm39) |
T278I |
probably damaging |
Het |
| Psg18 |
C |
T |
7: 18,084,787 (GRCm39) |
S103N |
probably benign |
Het |
| Psma3 |
T |
C |
12: 71,031,555 (GRCm39) |
|
probably benign |
Het |
| Slc7a11 |
T |
C |
3: 50,372,412 (GRCm39) |
|
probably benign |
Het |
| Tas2r115 |
T |
C |
6: 132,714,495 (GRCm39) |
D152G |
probably damaging |
Het |
| Tti1 |
A |
T |
2: 157,850,315 (GRCm39) |
L308Q |
possibly damaging |
Het |
| Unc93b1 |
G |
A |
19: 3,985,236 (GRCm39) |
A15T |
probably benign |
Het |
| Usp43 |
G |
A |
11: 67,747,233 (GRCm39) |
R820C |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
| Zfp286 |
C |
G |
11: 62,671,030 (GRCm39) |
G348R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTGATAAGCGTCATTCTAGTTG -3'
(R):5'- GTCAAGCTAATCCCTCCTGG -3'
Sequencing Primer
(F):5'- AAGTAGGCCTTGAACTCACTG -3'
(R):5'- CACTCAACTGTGCTTAGGGGAAAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation