Incidental Mutation 'R7077:Zswim9'
| ID |
549276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim9
|
| Ensembl Gene |
ENSMUSG00000070814 |
| Gene Name |
zinc finger SWIM-type containing 9 |
| Synonyms |
6330408A02Rik |
| MMRRC Submission |
045172-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R7077 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12992894-13012647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12993679 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 826
(R826C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108532]
[ENSMUST00000119139]
[ENSMUST00000119558]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108532
AA Change: R826C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104172
Gene: ENSMUSG00000070814
AA Change: R826C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119139
|
| SMART Domains |
Protein: ENSMUSP00000112652
Gene: ENSMUSG00000070814
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119558
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
C |
T |
12: 81,605,893 (GRCm39) |
C623Y |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,265,325 (GRCm39) |
K322R |
probably null |
Het |
| Ankrd17 |
T |
C |
5: 90,433,723 (GRCm39) |
H682R |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,094,276 (GRCm39) |
D187G |
probably damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,879,231 (GRCm39) |
D840G |
unknown |
Het |
| AW551984 |
C |
T |
9: 39,502,723 (GRCm39) |
V650I |
probably benign |
Het |
| Bok |
T |
A |
1: 93,616,911 (GRCm39) |
Y86N |
probably damaging |
Het |
| Ccdc146 |
T |
A |
5: 21,510,272 (GRCm39) |
N580I |
possibly damaging |
Het |
| Ccng2 |
T |
C |
5: 93,417,199 (GRCm39) |
S72P |
possibly damaging |
Het |
| Cfap74 |
T |
G |
4: 155,540,134 (GRCm39) |
I977S |
unknown |
Het |
| Cobl |
T |
C |
11: 12,203,441 (GRCm39) |
N1087S |
probably benign |
Het |
| Cyp21a1 |
C |
A |
17: 35,021,333 (GRCm39) |
R346L |
probably damaging |
Het |
| Eif4a1 |
A |
C |
11: 69,561,490 (GRCm39) |
F52L |
probably damaging |
Het |
| Eif4ebp2 |
A |
C |
10: 61,269,580 (GRCm39) |
I120S |
probably damaging |
Het |
| Enpp2 |
A |
C |
15: 54,764,787 (GRCm39) |
D146E |
probably benign |
Het |
| Exosc9 |
T |
C |
3: 36,607,205 (GRCm39) |
Y30H |
probably damaging |
Het |
| Fam117a |
G |
A |
11: 95,268,498 (GRCm39) |
G300S |
probably benign |
Het |
| Focad |
C |
A |
4: 88,328,914 (GRCm39) |
A1709E |
unknown |
Het |
| Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,813,496 (GRCm39) |
F3272L |
probably benign |
Het |
| Gcnt2 |
G |
A |
13: 41,013,896 (GRCm39) |
M22I |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,928 (GRCm39) |
E50G |
probably damaging |
Het |
| Gm10375 |
G |
T |
14: 43,840,427 (GRCm39) |
T162K |
probably benign |
Het |
| Gm10837 |
C |
G |
14: 122,728,142 (GRCm39) |
A6G |
unknown |
Het |
| Gm4924 |
T |
C |
10: 82,215,057 (GRCm39) |
F952L |
unknown |
Het |
| Heatr1 |
T |
C |
13: 12,433,045 (GRCm39) |
F1132L |
possibly damaging |
Het |
| Hnrnpu |
A |
G |
1: 178,159,756 (GRCm39) |
Y442H |
unknown |
Het |
| Hp1bp3 |
C |
A |
4: 137,966,929 (GRCm39) |
T408N |
probably damaging |
Het |
| Htra3 |
A |
G |
5: 35,825,660 (GRCm39) |
V198A |
probably damaging |
Het |
| Katnal1 |
T |
C |
5: 148,828,547 (GRCm39) |
T300A |
probably benign |
Het |
| Lipo5 |
G |
T |
19: 33,445,170 (GRCm39) |
P133Q |
|
Het |
| Lrp1b |
A |
T |
2: 41,660,858 (GRCm39) |
H197Q |
|
Het |
| Mdc1 |
C |
A |
17: 36,156,839 (GRCm39) |
A82D |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,103,408 (GRCm39) |
D248V |
probably benign |
Het |
| Myo1d |
C |
T |
11: 80,565,460 (GRCm39) |
E426K |
probably damaging |
Het |
| Ola1 |
G |
A |
2: 72,972,308 (GRCm39) |
T221I |
probably damaging |
Het |
| Or52z1 |
A |
G |
7: 103,436,593 (GRCm39) |
I297T |
probably damaging |
Het |
| Or5t7 |
T |
C |
2: 86,507,236 (GRCm39) |
Y147C |
possibly damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,428 (GRCm39) |
S102T |
probably benign |
Het |
| Or8c20 |
T |
A |
9: 38,261,266 (GRCm39) |
Y290N |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,623,201 (GRCm39) |
T618A |
possibly damaging |
Het |
| Pkd1 |
T |
G |
17: 24,810,093 (GRCm39) |
W3565G |
probably damaging |
Het |
| Prl3a1 |
A |
T |
13: 27,460,086 (GRCm39) |
N190I |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Ptpn11 |
C |
T |
5: 121,281,633 (GRCm39) |
R484Q |
probably benign |
Het |
| Rapgef4 |
T |
C |
2: 72,071,820 (GRCm39) |
M900T |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,607,855 (GRCm39) |
D501V |
probably benign |
Het |
| Smarcd3 |
G |
T |
5: 24,799,960 (GRCm39) |
A270D |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,272,187 (GRCm39) |
M33T |
|
Het |
| Tle1 |
G |
C |
4: 72,076,612 (GRCm39) |
P139A |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tsbp1 |
C |
A |
17: 34,659,856 (GRCm39) |
T93N |
possibly damaging |
Het |
| Zfp658 |
T |
A |
7: 43,223,413 (GRCm39) |
S563T |
probably benign |
Het |
|
| Other mutations in Zswim9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01926:Zswim9
|
APN |
7 |
12,994,248 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02063:Zswim9
|
APN |
7 |
12,994,608 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0568:Zswim9
|
UTSW |
7 |
12,994,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0680:Zswim9
|
UTSW |
7 |
12,994,248 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1438:Zswim9
|
UTSW |
7 |
13,011,144 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1600:Zswim9
|
UTSW |
7 |
13,003,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Zswim9
|
UTSW |
7 |
13,011,337 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1745:Zswim9
|
UTSW |
7 |
13,003,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Zswim9
|
UTSW |
7 |
12,994,141 (GRCm39) |
nonsense |
probably null |
|
|
R2025:Zswim9
|
UTSW |
7 |
13,003,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3149:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3150:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3176:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3177:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3276:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3277:Zswim9
|
UTSW |
7 |
13,011,196 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3950:Zswim9
|
UTSW |
7 |
12,995,503 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4554:Zswim9
|
UTSW |
7 |
13,011,088 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4866:Zswim9
|
UTSW |
7 |
12,995,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4953:Zswim9
|
UTSW |
7 |
13,003,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Zswim9
|
UTSW |
7 |
12,993,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5394:Zswim9
|
UTSW |
7 |
12,994,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Zswim9
|
UTSW |
7 |
12,994,753 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5654:Zswim9
|
UTSW |
7 |
12,995,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5810:Zswim9
|
UTSW |
7 |
12,994,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5859:Zswim9
|
UTSW |
7 |
12,995,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6235:Zswim9
|
UTSW |
7 |
12,995,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6239:Zswim9
|
UTSW |
7 |
12,995,257 (GRCm39) |
nonsense |
probably null |
|
|
R6249:Zswim9
|
UTSW |
7 |
12,994,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6394:Zswim9
|
UTSW |
7 |
12,994,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7133:Zswim9
|
UTSW |
7 |
12,993,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7178:Zswim9
|
UTSW |
7 |
12,993,924 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7595:Zswim9
|
UTSW |
7 |
12,994,998 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8005:Zswim9
|
UTSW |
7 |
12,995,064 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8138:Zswim9
|
UTSW |
7 |
12,995,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8282:Zswim9
|
UTSW |
7 |
12,995,536 (GRCm39) |
missense |
probably benign |
|
|
R8818:Zswim9
|
UTSW |
7 |
12,994,456 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9241:Zswim9
|
UTSW |
7 |
13,003,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9277:Zswim9
|
UTSW |
7 |
12,994,983 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9787:Zswim9
|
UTSW |
7 |
12,994,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCTTTAGATGACTCAGGAGG -3'
(R):5'- TGGCAGATCTAGTGGCAGAG -3'
Sequencing Primer
(F):5'- CTCAGGAGGTGATTAGAAGTGCTC -3'
(R):5'- TCTAGTGGCAGAGGAGCTAGCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation