Incidental Mutation 'IGL03048:Zswim4'
| ID |
391816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim4
|
| Ensembl Gene |
ENSMUSG00000035671 |
| Gene Name |
zinc finger SWIM-type containing 4 |
| Synonyms |
E130119J17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
IGL03048 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
84937571-84963671 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84938604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1093
(M1093V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039480]
|
| AlphaFold |
Q8C7B8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039480
AA Change: M1093V
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040078
Gene: ENSMUSG00000035671
AA Change: M1093V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
531 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
917 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083677
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199621
|
| Meta Mutation Damage Score |
0.0634 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
T |
C |
2: 26,868,711 (GRCm39) |
|
probably null |
Het |
| Anapc4 |
C |
T |
5: 52,997,075 (GRCm39) |
T116I |
probably benign |
Het |
| Arhgap45 |
C |
T |
10: 79,852,851 (GRCm39) |
R14C |
probably damaging |
Het |
| Bysl |
T |
C |
17: 47,913,560 (GRCm39) |
|
probably null |
Het |
| Ccdc166 |
T |
A |
15: 75,854,050 (GRCm39) |
N10I |
possibly damaging |
Het |
| Chd1l |
T |
C |
3: 97,505,079 (GRCm39) |
S163G |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,737,970 (GRCm39) |
V576A |
possibly damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,339 (GRCm39) |
T162A |
probably benign |
Het |
| Dcbld1 |
A |
T |
10: 52,180,722 (GRCm39) |
I200F |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,720,866 (GRCm39) |
E1713G |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,198 (GRCm39) |
T220S |
probably damaging |
Het |
| Evx1 |
T |
C |
6: 52,292,739 (GRCm39) |
L130P |
probably benign |
Het |
| Fam168a |
A |
G |
7: 100,484,545 (GRCm39) |
T228A |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Firrm |
G |
A |
1: 163,792,094 (GRCm39) |
A608V |
probably benign |
Het |
| Foxp4 |
A |
T |
17: 48,191,765 (GRCm39) |
M124K |
unknown |
Het |
| Gabrr3 |
A |
G |
16: 59,250,493 (GRCm39) |
H164R |
probably benign |
Het |
| Gapdhrt |
T |
A |
14: 11,281,873 (GRCm38) |
I21F |
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,783,332 (GRCm39) |
C134Y |
probably damaging |
Het |
| Hddc2 |
G |
A |
10: 31,192,332 (GRCm39) |
V79I |
possibly damaging |
Het |
| Lbr |
T |
C |
1: 181,666,109 (GRCm39) |
|
probably benign |
Het |
| Mamdc4 |
C |
T |
2: 25,459,084 (GRCm39) |
R229K |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,630,847 (GRCm39) |
|
probably benign |
Het |
| Ncoa1 |
T |
C |
12: 4,317,922 (GRCm39) |
R1137G |
probably damaging |
Het |
| Nlrp4d |
T |
C |
7: 10,092,881 (GRCm39) |
|
noncoding transcript |
Het |
| Oasl1 |
T |
A |
5: 115,075,400 (GRCm39) |
S487T |
possibly damaging |
Het |
| Oprm1 |
T |
C |
10: 6,779,064 (GRCm39) |
I91T |
probably damaging |
Het |
| Or11j4 |
G |
T |
14: 50,630,245 (GRCm39) |
V11L |
possibly damaging |
Het |
| Or1e26 |
G |
C |
11: 73,479,831 (GRCm39) |
H244Q |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,338,065 (GRCm39) |
F101L |
probably benign |
Het |
| Pdzk1ip1 |
T |
A |
4: 114,950,181 (GRCm39) |
D147E |
probably benign |
Het |
| Per1 |
A |
G |
11: 68,995,552 (GRCm39) |
K711E |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,214 (GRCm39) |
N734S |
probably damaging |
Het |
| Rapgefl1 |
T |
C |
11: 98,727,990 (GRCm39) |
L4P |
possibly damaging |
Het |
| Sgk2 |
A |
G |
2: 162,837,680 (GRCm39) |
Y101C |
probably damaging |
Het |
| Tmem129 |
A |
G |
5: 33,812,811 (GRCm39) |
V179A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,719,259 (GRCm39) |
|
probably benign |
Het |
| Ttyh2 |
T |
A |
11: 114,587,521 (GRCm39) |
M174K |
probably benign |
Het |
| Vmn2r13 |
G |
A |
5: 109,304,151 (GRCm39) |
A760V |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,460 (GRCm39) |
I820F |
probably damaging |
Het |
|
| Other mutations in Zswim4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Zswim4
|
APN |
8 |
84,938,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0217:Zswim4
|
UTSW |
8 |
84,939,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0688:Zswim4
|
UTSW |
8 |
84,955,517 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1217:Zswim4
|
UTSW |
8 |
84,946,601 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1853:Zswim4
|
UTSW |
8 |
84,950,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Zswim4
|
UTSW |
8 |
84,939,405 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2205:Zswim4
|
UTSW |
8 |
84,952,498 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2940:Zswim4
|
UTSW |
8 |
84,950,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3747:Zswim4
|
UTSW |
8 |
84,938,676 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3748:Zswim4
|
UTSW |
8 |
84,938,676 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3750:Zswim4
|
UTSW |
8 |
84,938,676 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4777:Zswim4
|
UTSW |
8 |
84,963,586 (GRCm39) |
missense |
probably benign |
|
|
R4831:Zswim4
|
UTSW |
8 |
84,938,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4959:Zswim4
|
UTSW |
8 |
84,938,852 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4968:Zswim4
|
UTSW |
8 |
84,944,001 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4973:Zswim4
|
UTSW |
8 |
84,938,852 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4977:Zswim4
|
UTSW |
8 |
84,953,296 (GRCm39) |
splice site |
probably null |
|
|
R4978:Zswim4
|
UTSW |
8 |
84,953,296 (GRCm39) |
splice site |
probably null |
|
|
R4980:Zswim4
|
UTSW |
8 |
84,953,296 (GRCm39) |
splice site |
probably null |
|
|
R4981:Zswim4
|
UTSW |
8 |
84,953,296 (GRCm39) |
splice site |
probably null |
|
|
R4982:Zswim4
|
UTSW |
8 |
84,953,296 (GRCm39) |
splice site |
probably null |
|
|
R4983:Zswim4
|
UTSW |
8 |
84,953,296 (GRCm39) |
splice site |
probably null |
|
|
R5248:Zswim4
|
UTSW |
8 |
84,946,561 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5337:Zswim4
|
UTSW |
8 |
84,961,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5366:Zswim4
|
UTSW |
8 |
84,939,419 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5646:Zswim4
|
UTSW |
8 |
84,957,739 (GRCm39) |
splice site |
probably null |
|
|
R5845:Zswim4
|
UTSW |
8 |
84,943,871 (GRCm39) |
splice site |
probably null |
|
|
R6193:Zswim4
|
UTSW |
8 |
84,952,774 (GRCm39) |
missense |
probably benign |
|
|
R6270:Zswim4
|
UTSW |
8 |
84,957,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6648:Zswim4
|
UTSW |
8 |
84,957,543 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6920:Zswim4
|
UTSW |
8 |
84,940,714 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7117:Zswim4
|
UTSW |
8 |
84,940,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Zswim4
|
UTSW |
8 |
84,946,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Zswim4
|
UTSW |
8 |
84,950,327 (GRCm39) |
nonsense |
probably null |
|
|
R7354:Zswim4
|
UTSW |
8 |
84,955,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8036:Zswim4
|
UTSW |
8 |
84,949,918 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8408:Zswim4
|
UTSW |
8 |
84,939,014 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8518:Zswim4
|
UTSW |
8 |
84,938,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Zswim4
|
UTSW |
8 |
84,939,313 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8830:Zswim4
|
UTSW |
8 |
84,949,945 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8838:Zswim4
|
UTSW |
8 |
84,940,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8840:Zswim4
|
UTSW |
8 |
84,940,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8842:Zswim4
|
UTSW |
8 |
84,940,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9185:Zswim4
|
UTSW |
8 |
84,963,633 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R9355:Zswim4
|
UTSW |
8 |
84,955,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9432:Zswim4
|
UTSW |
8 |
84,963,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9635:Zswim4
|
UTSW |
8 |
84,939,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTAGCAGTATGGCTTCGG -3'
(R):5'- CAGTAGCCGCGTACATAACC -3'
Sequencing Primer
(F):5'- CAGTATGGCTTCGGATCCTCAG -3'
(R):5'- TAGCCGCGTACATAACCACCAG -3'
|
| Posted On |
2016-06-07 |
Incidental Mutation