Incidental Mutation 'R6002:Zswim2'
| ID |
478410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim2
|
| Ensembl Gene |
ENSMUSG00000034552 |
| Gene Name |
zinc finger SWIM-type containing 2 |
| Synonyms |
4933437F18Rik, MEX, 1700025P14Rik |
| MMRRC Submission |
044181-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R6002 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
83745423-83771572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 83746032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 469
(D469Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038223]
[ENSMUST00000152829]
|
| AlphaFold |
Q9D9X6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038223
AA Change: D469Y
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044913
Gene: ENSMUSG00000034552
AA Change: D469Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIM
|
54 |
87 |
1.4e-7 |
PFAM |
|
RING
|
147 |
198 |
8.3e-5 |
SMART |
|
ZnF_ZZ
|
229 |
273 |
1.8e-5 |
SMART |
|
RING
|
344 |
385 |
1.3e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152829
|
| SMART Domains |
Protein: ENSMUSP00000119439
Gene: ENSMUSG00000034552
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIM
|
54 |
87 |
1.6e-10 |
PFAM |
|
RING
|
147 |
198 |
1.69e-2 |
SMART |
|
ZnF_ZZ
|
229 |
273 |
3.65e-3 |
SMART |
|
Blast:RING
|
344 |
365 |
3e-6 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.6%
- 20x: 88.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,492,768 (GRCm39) |
|
probably null |
Het |
| Adam28 |
A |
G |
14: 68,879,511 (GRCm39) |
L179P |
probably benign |
Het |
| Amer2 |
G |
T |
14: 60,616,231 (GRCm39) |
G142V |
possibly damaging |
Het |
| Ap2a1 |
A |
G |
7: 44,553,819 (GRCm39) |
|
probably null |
Het |
| Arhgap32 |
A |
G |
9: 32,168,275 (GRCm39) |
T753A |
probably benign |
Het |
| Capsl |
A |
G |
15: 9,461,874 (GRCm39) |
D90G |
probably damaging |
Het |
| Cd96 |
A |
T |
16: 45,938,349 (GRCm39) |
S39T |
possibly damaging |
Het |
| Cdx2 |
T |
A |
5: 147,240,044 (GRCm39) |
T211S |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,705,515 (GRCm39) |
Y251C |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,896,774 (GRCm39) |
V368I |
probably benign |
Het |
| Coro1a |
G |
T |
7: 126,302,252 (GRCm39) |
Q32K |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,211,914 (GRCm39) |
V694E |
possibly damaging |
Het |
| Eif3h |
A |
G |
15: 51,662,672 (GRCm39) |
Y125H |
probably benign |
Het |
| Fbxw22 |
A |
C |
9: 109,210,750 (GRCm39) |
Y420* |
probably null |
Het |
| Fgf21 |
T |
C |
7: 45,264,651 (GRCm39) |
Y27C |
probably benign |
Het |
| Gm7356 |
A |
G |
17: 14,221,001 (GRCm39) |
S343P |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,310,321 (GRCm39) |
D3305G |
probably damaging |
Het |
| Ift70a1 |
T |
C |
2: 75,811,121 (GRCm39) |
T321A |
possibly damaging |
Het |
| Kdm4c |
T |
A |
4: 74,323,206 (GRCm39) |
F1046Y |
possibly damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,705,114 (GRCm39) |
W94R |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,962,143 (GRCm39) |
M576L |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,063 (GRCm39) |
H316R |
probably benign |
Het |
| Or4d2 |
A |
T |
11: 87,784,633 (GRCm39) |
V39E |
probably damaging |
Het |
| Or5b122 |
T |
C |
19: 13,562,781 (GRCm39) |
|
probably benign |
Het |
| Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,215,645 (GRCm39) |
V1184D |
probably damaging |
Het |
| Pcyox1 |
T |
A |
6: 86,369,164 (GRCm39) |
M152L |
probably benign |
Het |
| Pdha2 |
A |
G |
3: 140,917,457 (GRCm39) |
V17A |
probably benign |
Het |
| Pi4k2b |
A |
T |
5: 52,914,247 (GRCm39) |
I328L |
probably benign |
Het |
| Ppp1r13l |
T |
C |
7: 19,111,895 (GRCm39) |
F814L |
probably benign |
Het |
| Prag1 |
A |
T |
8: 36,571,337 (GRCm39) |
H640L |
probably benign |
Het |
| Prl5a1 |
T |
C |
13: 28,329,465 (GRCm39) |
I48T |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,363,614 (GRCm39) |
T132A |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,524,203 (GRCm39) |
I146V |
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,499,460 (GRCm39) |
Y306C |
probably damaging |
Het |
| Stat3 |
A |
G |
11: 100,794,569 (GRCm39) |
S247P |
probably benign |
Het |
| Tbc1d1 |
C |
A |
5: 64,490,776 (GRCm39) |
L747I |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,402,761 (GRCm39) |
M1K |
probably null |
Het |
| Vezt |
A |
C |
10: 93,836,336 (GRCm39) |
V104G |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,351,397 (GRCm39) |
D170G |
probably damaging |
Het |
|
| Other mutations in Zswim2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00844:Zswim2
|
APN |
2 |
83,754,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01140:Zswim2
|
APN |
2 |
83,745,672 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01362:Zswim2
|
APN |
2 |
83,745,690 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01768:Zswim2
|
APN |
2 |
83,748,301 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02166:Zswim2
|
APN |
2 |
83,745,750 (GRCm39) |
nonsense |
probably null |
|
|
IGL02187:Zswim2
|
APN |
2 |
83,753,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02239:Zswim2
|
APN |
2 |
83,769,107 (GRCm39) |
nonsense |
probably null |
|
|
IGL02629:Zswim2
|
APN |
2 |
83,755,553 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0609:Zswim2
|
UTSW |
2 |
83,754,003 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0943:Zswim2
|
UTSW |
2 |
83,748,342 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0946:Zswim2
|
UTSW |
2 |
83,754,103 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1006:Zswim2
|
UTSW |
2 |
83,745,737 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1191:Zswim2
|
UTSW |
2 |
83,754,039 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1309:Zswim2
|
UTSW |
2 |
83,769,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1549:Zswim2
|
UTSW |
2 |
83,754,092 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1563:Zswim2
|
UTSW |
2 |
83,745,626 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1739:Zswim2
|
UTSW |
2 |
83,745,684 (GRCm39) |
nonsense |
probably null |
|
|
R1994:Zswim2
|
UTSW |
2 |
83,746,007 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4039:Zswim2
|
UTSW |
2 |
83,746,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4645:Zswim2
|
UTSW |
2 |
83,745,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4738:Zswim2
|
UTSW |
2 |
83,745,739 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4855:Zswim2
|
UTSW |
2 |
83,747,187 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4933:Zswim2
|
UTSW |
2 |
83,755,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4963:Zswim2
|
UTSW |
2 |
83,755,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Zswim2
|
UTSW |
2 |
83,770,010 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5401:Zswim2
|
UTSW |
2 |
83,755,589 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5698:Zswim2
|
UTSW |
2 |
83,755,527 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6396:Zswim2
|
UTSW |
2 |
83,754,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6447:Zswim2
|
UTSW |
2 |
83,745,457 (GRCm39) |
splice site |
probably null |
|
|
R6646:Zswim2
|
UTSW |
2 |
83,746,128 (GRCm39) |
nonsense |
probably null |
|
|
R6717:Zswim2
|
UTSW |
2 |
83,745,753 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6735:Zswim2
|
UTSW |
2 |
83,754,105 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6830:Zswim2
|
UTSW |
2 |
83,770,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7056:Zswim2
|
UTSW |
2 |
83,751,092 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7088:Zswim2
|
UTSW |
2 |
83,746,071 (GRCm39) |
nonsense |
probably null |
|
|
R7383:Zswim2
|
UTSW |
2 |
83,745,672 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7440:Zswim2
|
UTSW |
2 |
83,751,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Zswim2
|
UTSW |
2 |
83,745,951 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7955:Zswim2
|
UTSW |
2 |
83,747,227 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7983:Zswim2
|
UTSW |
2 |
83,753,911 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8765:Zswim2
|
UTSW |
2 |
83,771,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9295:Zswim2
|
UTSW |
2 |
83,748,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9465:Zswim2
|
UTSW |
2 |
83,746,275 (GRCm39) |
missense |
probably benign |
0.21 |
|
X0018:Zswim2
|
UTSW |
2 |
83,771,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTTCCAGTGAGACAAATAATG -3'
(R):5'- TCTGATCTGGAAAGGCATAGC -3'
Sequencing Primer
(F):5'- ACAAATAATGTTCTTATGAGGAAGGG -3'
(R):5'- GCACATCAGTTGGCTTCAAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation