Incidental Mutation 'R9241:Zswim9'
| ID |
700739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim9
|
| Ensembl Gene |
ENSMUSG00000070814 |
| Gene Name |
zinc finger SWIM-type containing 9 |
| Synonyms |
6330408A02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R9241 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
12992894-13012647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13003360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 163
(D163E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112652
(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: D163E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104172
Gene: ENSMUSG00000070814
AA Change: D163E
| 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 damaging
Transcript: ENSMUST00000119139
AA Change: D163E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112652
Gene: ENSMUSG00000070814
AA Change: D163E
| 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: 99.2%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,697,937 (GRCm39) |
L390P |
probably damaging |
Het |
| AL732309.1 |
T |
A |
2: 25,135,919 (GRCm39) |
E98D |
possibly damaging |
Het |
| Aldh2 |
T |
C |
5: 121,710,220 (GRCm39) |
I372V |
probably benign |
Het |
| Amph |
G |
T |
13: 19,278,972 (GRCm39) |
R149L |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,688,887 (GRCm39) |
V8A |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,291,345 (GRCm39) |
V821E |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,743,993 (GRCm39) |
Q1504L |
probably benign |
Het |
| Cdcp1 |
C |
A |
9: 123,014,301 (GRCm39) |
G158W |
probably damaging |
Het |
| Cryge |
T |
G |
1: 65,088,018 (GRCm39) |
D97A |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Dyrk1b |
A |
G |
7: 27,886,058 (GRCm39) |
T594A |
probably benign |
Het |
| Emilin3 |
T |
C |
2: 160,750,177 (GRCm39) |
D477G |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,147,566 (GRCm39) |
H3892R |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gm9922 |
A |
T |
14: 101,967,220 (GRCm39) |
S11T |
unknown |
Het |
| Hcfc2 |
T |
C |
10: 82,568,485 (GRCm39) |
V43A |
probably benign |
Het |
| Hcn1 |
T |
C |
13: 117,793,249 (GRCm39) |
F167S |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,926,507 (GRCm39) |
I1012M |
probably damaging |
Het |
| Kash5 |
A |
G |
7: 44,833,313 (GRCm39) |
I603T |
probably benign |
Het |
| Lepr |
G |
T |
4: 101,671,788 (GRCm39) |
M937I |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,271,952 (GRCm39) |
D6532G |
probably damaging |
Het |
| Mapk13 |
A |
T |
17: 28,990,187 (GRCm39) |
D102V |
probably damaging |
Het |
| Mapt |
A |
T |
11: 104,189,797 (GRCm39) |
T272S |
probably benign |
Het |
| Mfap3 |
A |
G |
11: 57,420,672 (GRCm39) |
T218A |
probably damaging |
Het |
| Mki67 |
A |
T |
7: 135,297,653 (GRCm39) |
H2460Q |
possibly damaging |
Het |
| Nalcn |
G |
T |
14: 123,809,429 (GRCm39) |
P241Q |
probably benign |
Het |
| Nup50 |
A |
G |
15: 84,822,611 (GRCm39) |
T378A |
possibly damaging |
Het |
| Oprl1 |
C |
T |
2: 181,360,405 (GRCm39) |
R154C |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,585,781 (GRCm39) |
M40V |
probably benign |
Het |
| Pcdha8 |
C |
T |
18: 37,127,008 (GRCm39) |
R497W |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 116,017,115 (GRCm39) |
V214A |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,525,204 (GRCm39) |
|
probably null |
Het |
| Pole3 |
A |
G |
4: 62,442,845 (GRCm39) |
|
probably benign |
Het |
| Prkn |
A |
T |
17: 11,456,382 (GRCm39) |
I69L |
probably benign |
Het |
| Psd3 |
G |
T |
8: 68,415,967 (GRCm39) |
N357K |
probably benign |
Het |
| Psme4 |
A |
T |
11: 30,815,576 (GRCm39) |
D1696V |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,174,067 (GRCm39) |
R2012Q |
probably damaging |
Het |
| Saxo2 |
T |
C |
7: 82,284,250 (GRCm39) |
T203A |
probably benign |
Het |
| Scgb1a1 |
T |
C |
19: 9,065,293 (GRCm39) |
|
probably benign |
Het |
| Selplg |
T |
A |
5: 113,957,647 (GRCm39) |
N220Y |
possibly damaging |
Het |
| Septin9 |
C |
A |
11: 117,109,724 (GRCm39) |
R15S |
probably benign |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Smarca4 |
T |
G |
9: 21,550,604 (GRCm39) |
S446A |
possibly damaging |
Het |
| Smc1b |
T |
C |
15: 84,976,209 (GRCm39) |
N833D |
probably benign |
Het |
| Son |
T |
A |
16: 91,454,122 (GRCm39) |
D956E |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,885,420 (GRCm39) |
Y2060* |
probably null |
Het |
| Tesmin |
T |
C |
19: 3,439,010 (GRCm39) |
F21L |
probably benign |
Het |
| Tmem200c |
G |
T |
17: 69,144,161 (GRCm39) |
|
probably benign |
Het |
| Tnk2 |
A |
C |
16: 32,488,916 (GRCm39) |
D252A |
probably damaging |
Het |
| Tpcn1 |
C |
T |
5: 120,691,558 (GRCm39) |
V299I |
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,151,182 (GRCm39) |
N790S |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,308,697 (GRCm39) |
T641I |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,321,520 (GRCm39) |
Q45L |
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 |
|
R7077:Zswim9
|
UTSW |
7 |
12,993,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGCACCTTCAGCACCCTAGTAG -3'
(R):5'- CTGTCAAGCTGAGCCCTTTG -3'
Sequencing Primer
(F):5'- CCTAGTAGGTGCTTACTGAATAAATG -3'
(R):5'- GCCCTTTGCGAGATCGACTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation