Incidental Mutation 'R4064:Zscan22'
| ID |
316011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan22
|
| Ensembl Gene |
ENSMUSG00000054715 |
| Gene Name |
zinc finger and SCAN domain containing 22 |
| Synonyms |
Hkr2, D530006B18Rik |
| MMRRC Submission |
041620-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R4064 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12631742-12643010 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 12640941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 395
(T395I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055528]
[ENSMUST00000117189]
[ENSMUST00000119989]
[ENSMUST00000120809]
|
| AlphaFold |
Q8BGS5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055528
AA Change: T395I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057651
Gene: ENSMUSG00000054715
AA Change: T395I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
40 |
N/A |
INTRINSIC |
|
SCAN
|
45 |
154 |
8.03e-50 |
SMART |
|
ZnF_C2H2
|
273 |
292 |
6.64e1 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
354 |
376 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
1.72e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117189
AA Change: T236I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112684
Gene: ENSMUSG00000054715
AA Change: T236I
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
114 |
133 |
6.64e1 |
SMART |
|
ZnF_C2H2
|
139 |
161 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
195 |
217 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
223 |
245 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
279 |
301 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
307 |
329 |
1.72e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119989
AA Change: T236I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113486
Gene: ENSMUSG00000054715
AA Change: T236I
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
114 |
133 |
6.64e1 |
SMART |
|
ZnF_C2H2
|
139 |
161 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
195 |
217 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
223 |
245 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
279 |
301 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
307 |
329 |
1.72e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120809
AA Change: T395I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113314
Gene: ENSMUSG00000054715
AA Change: T395I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
40 |
N/A |
INTRINSIC |
|
SCAN
|
45 |
154 |
8.03e-50 |
SMART |
|
ZnF_C2H2
|
273 |
292 |
6.64e1 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
354 |
376 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
1.72e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
G |
19: 43,793,432 (GRCm39) |
Y361* |
probably null |
Het |
| Afmid |
A |
G |
11: 117,727,354 (GRCm39) |
T293A |
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,409,655 (GRCm39) |
|
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Axl |
C |
A |
7: 25,463,445 (GRCm39) |
V602L |
probably benign |
Het |
| Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
| Duoxa2 |
G |
T |
2: 122,131,058 (GRCm39) |
S73I |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,513,098 (GRCm39) |
E435G |
possibly damaging |
Het |
| Fbxo15 |
C |
T |
18: 84,977,243 (GRCm39) |
R52C |
probably damaging |
Het |
| Fosb |
G |
T |
7: 19,039,117 (GRCm39) |
C186* |
probably null |
Het |
| Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,428,980 (GRCm39) |
F683I |
probably damaging |
Het |
| Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
| Nhlh2 |
A |
G |
3: 101,920,052 (GRCm39) |
D28G |
probably benign |
Het |
| Or1e16 |
A |
T |
11: 73,286,348 (GRCm39) |
S167T |
probably benign |
Het |
| Or5w17 |
A |
G |
2: 87,584,133 (GRCm39) |
F68S |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,626,510 (GRCm39) |
D1451E |
probably benign |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,861,597 (GRCm39) |
S977G |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,530,188 (GRCm39) |
T98A |
probably damaging |
Het |
| Pus10 |
A |
G |
11: 23,678,983 (GRCm39) |
K485R |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,243,368 (GRCm39) |
D588G |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,156,082 (GRCm39) |
D723E |
possibly damaging |
Het |
| Rp1 |
A |
T |
1: 4,415,623 (GRCm39) |
S1830T |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,114,293 (GRCm39) |
S551P |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,373,766 (GRCm39) |
E127D |
probably benign |
Het |
| Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,690,925 (GRCm39) |
Y568H |
probably benign |
Het |
| Tars3 |
G |
A |
7: 65,302,018 (GRCm39) |
A181T |
possibly damaging |
Het |
| Tbc1d2b |
T |
A |
9: 90,100,975 (GRCm39) |
K672* |
probably null |
Het |
| Tmem59l |
T |
C |
8: 70,938,369 (GRCm39) |
T168A |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,804,245 (GRCm39) |
|
probably benign |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,306 (GRCm39) |
F127S |
probably damaging |
Het |
| Zfp282 |
G |
A |
6: 47,857,028 (GRCm39) |
R87H |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
Het |
|
| Other mutations in Zscan22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01966:Zscan22
|
APN |
7 |
12,640,398 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02408:Zscan22
|
APN |
7 |
12,640,426 (GRCm39) |
missense |
probably benign |
0.09 |
|
PIT4378001:Zscan22
|
UTSW |
7 |
12,637,983 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0079:Zscan22
|
UTSW |
7 |
12,638,014 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1677:Zscan22
|
UTSW |
7 |
12,640,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Zscan22
|
UTSW |
7 |
12,640,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Zscan22
|
UTSW |
7 |
12,637,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2258:Zscan22
|
UTSW |
7 |
12,637,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Zscan22
|
UTSW |
7 |
12,640,750 (GRCm39) |
nonsense |
probably null |
|
|
R3115:Zscan22
|
UTSW |
7 |
12,641,217 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4274:Zscan22
|
UTSW |
7 |
12,640,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4691:Zscan22
|
UTSW |
7 |
12,640,488 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5355:Zscan22
|
UTSW |
7 |
12,640,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5607:Zscan22
|
UTSW |
7 |
12,640,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5608:Zscan22
|
UTSW |
7 |
12,640,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5789:Zscan22
|
UTSW |
7 |
12,637,853 (GRCm39) |
missense |
probably benign |
|
|
R6293:Zscan22
|
UTSW |
7 |
12,640,834 (GRCm39) |
nonsense |
probably null |
|
|
R7210:Zscan22
|
UTSW |
7 |
12,640,748 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7475:Zscan22
|
UTSW |
7 |
12,640,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7491:Zscan22
|
UTSW |
7 |
12,640,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8321:Zscan22
|
UTSW |
7 |
12,637,625 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9198:Zscan22
|
UTSW |
7 |
12,641,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9238:Zscan22
|
UTSW |
7 |
12,641,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9566:Zscan22
|
UTSW |
7 |
12,640,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCACACAGGAGCAAAGCC -3'
(R):5'- TCAATGAGGGAGGAGCTTTG -3'
Sequencing Primer
(F):5'- AAAGCCTTCAGTCGCGTTG -3'
(R):5'- GCTTTGTGCGAAGGCCTTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation