Incidental Mutation 'R5292:Zkscan5'
| ID |
405193 |
| 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 |
042875-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R5292 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
145141372-145158560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 145155451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 374
(C374F)
|
| 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: C301F
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031601
Gene: ENSMUSG00000055991
AA Change: C301F
| 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: C374F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082814
Gene: ENSMUSG00000055991
AA Change: C374F
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
G |
8: 25,354,467 (GRCm39) |
V641A |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,055,912 (GRCm39) |
M1465L |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,407,933 (GRCm39) |
|
probably null |
Het |
| Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,842,185 (GRCm39) |
Y433C |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,268,358 (GRCm39) |
T154A |
possibly damaging |
Het |
| Dcc |
T |
C |
18: 71,439,159 (GRCm39) |
Y1241C |
probably damaging |
Het |
| Depdc1b |
T |
C |
13: 108,510,376 (GRCm39) |
V296A |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,873,685 (GRCm39) |
S270P |
probably damaging |
Het |
| Gcm1 |
T |
C |
9: 77,968,708 (GRCm39) |
F136S |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,053,237 (GRCm39) |
|
probably null |
Het |
| Gm5174 |
G |
T |
10: 86,492,562 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl1 |
A |
G |
12: 108,294,037 (GRCm39) |
T648A |
probably benign |
Het |
| Hr |
C |
A |
14: 70,809,432 (GRCm39) |
Q1177K |
probably damaging |
Het |
| Hrnr |
T |
C |
3: 93,239,199 (GRCm39) |
S3146P |
unknown |
Het |
| Igkv10-94 |
C |
T |
6: 68,681,582 (GRCm39) |
G86E |
probably damaging |
Het |
| Krt80 |
G |
A |
15: 101,250,066 (GRCm39) |
R222W |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,796,177 (GRCm39) |
Y354H |
probably damaging |
Het |
| Or10g1 |
A |
T |
14: 52,647,902 (GRCm39) |
N142K |
possibly damaging |
Het |
| Or3a1b |
T |
A |
11: 74,012,877 (GRCm39) |
F254Y |
probably damaging |
Het |
| Or5w1b |
T |
A |
2: 87,476,339 (GRCm39) |
N43Y |
probably damaging |
Het |
| Osbpl7 |
A |
G |
11: 96,958,779 (GRCm39) |
D932G |
probably benign |
Het |
| Pakap |
T |
G |
4: 57,855,356 (GRCm39) |
S471R |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,717,393 (GRCm39) |
E368G |
probably benign |
Het |
| Peg3 |
T |
A |
7: 6,711,259 (GRCm39) |
D1321V |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,392,962 (GRCm39) |
I1766F |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,881,745 (GRCm39) |
E1303G |
probably damaging |
Het |
| Ppie |
A |
G |
4: 123,033,701 (GRCm39) |
Y9H |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,002,581 (GRCm39) |
N1557S |
probably benign |
Het |
| Rnf40 |
T |
C |
7: 127,195,120 (GRCm39) |
V411A |
possibly damaging |
Het |
| Rtn4 |
T |
C |
11: 29,657,924 (GRCm39) |
F577L |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,449,432 (GRCm39) |
Y3826C |
probably damaging |
Het |
| Slc32a1 |
A |
G |
2: 158,453,307 (GRCm39) |
D49G |
probably damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,150,453 (GRCm39) |
C167* |
probably null |
Het |
| Slc5a1 |
G |
T |
5: 33,315,585 (GRCm39) |
V535F |
probably benign |
Het |
| Smoc2 |
A |
G |
17: 14,556,835 (GRCm39) |
K95E |
probably damaging |
Het |
| Smok3c |
A |
C |
5: 138,063,446 (GRCm39) |
Q311P |
probably damaging |
Het |
| Spink5 |
C |
A |
18: 44,139,521 (GRCm39) |
P628Q |
probably benign |
Het |
| Spint4 |
T |
C |
2: 164,542,779 (GRCm39) |
L124S |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,529,626 (GRCm39) |
K1961R |
probably benign |
Het |
| Synpo2 |
C |
A |
3: 122,907,709 (GRCm39) |
V536L |
possibly damaging |
Het |
| Trim24 |
A |
G |
6: 37,880,539 (GRCm39) |
K146E |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,275,460 (GRCm39) |
D2245G |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,971,678 (GRCm39) |
S81P |
probably damaging |
Het |
| Zfp39 |
T |
C |
11: 58,791,415 (GRCm39) |
T91A |
probably damaging |
Het |
| Zfp764l1 |
T |
C |
7: 126,991,659 (GRCm39) |
D97G |
possibly damaging |
Het |
| Zfp936 |
T |
A |
7: 42,838,759 (GRCm39) |
Y75* |
probably null |
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 |
|
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'- TGGCAGGTGAATCCCACTTC -3'
(R):5'- TGCTCGATCAGATGCGAGTG -3'
Sequencing Primer
(F):5'- ACTTCGGGGAATCCAAGGC -3'
(R):5'- AAAGCTCTTCCCGCACTCG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation