Incidental Mutation 'R5337:Zswim4'
ID |
423574 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zswim4
|
Ensembl Gene |
ENSMUSG00000035671 |
Gene Name |
zinc finger SWIM-type containing 4 |
Synonyms |
E130119J17Rik |
MMRRC Submission |
042917-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
R5337 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
84937571-84963671 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 84961708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 55
(P55L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040078
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039480]
|
AlphaFold |
Q8C7B8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039480
AA Change: P55L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040078 Gene: ENSMUSG00000035671 AA Change: P55L
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 |
|
Meta Mutation Damage Score |
0.2942 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd15 |
T |
A |
11: 77,409,665 (GRCm39) |
|
probably null |
Het |
Akap8l |
A |
G |
17: 32,555,368 (GRCm39) |
M237T |
possibly damaging |
Het |
Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
Api5 |
G |
T |
2: 94,256,033 (GRCm39) |
A218E |
possibly damaging |
Het |
Bltp2 |
T |
A |
11: 78,156,034 (GRCm39) |
I182N |
possibly damaging |
Het |
Cfap68 |
C |
A |
9: 50,677,049 (GRCm39) |
C14F |
probably benign |
Het |
Cftr |
A |
G |
6: 18,319,058 (GRCm39) |
D1336G |
probably damaging |
Het |
Chd1l |
G |
A |
3: 97,469,932 (GRCm39) |
R865W |
probably damaging |
Het |
Cimip2b |
C |
T |
4: 43,427,687 (GRCm39) |
|
probably null |
Het |
Cmya5 |
T |
C |
13: 93,219,781 (GRCm39) |
K3223E |
probably benign |
Het |
Cspg4b |
T |
A |
13: 113,455,299 (GRCm39) |
H448Q |
probably damaging |
Het |
Cuzd1 |
A |
G |
7: 130,917,803 (GRCm39) |
Y266H |
probably damaging |
Het |
Dnajc5b |
A |
T |
3: 19,628,946 (GRCm39) |
Y80F |
probably damaging |
Het |
Dock6 |
A |
G |
9: 21,740,844 (GRCm39) |
S915P |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 38,945,776 (GRCm39) |
D1556E |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,064,527 (GRCm39) |
T4828A |
probably benign |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gja3 |
T |
G |
14: 57,273,289 (GRCm39) |
D361A |
probably benign |
Het |
Gpr155 |
T |
C |
2: 73,178,592 (GRCm39) |
E704G |
probably benign |
Het |
Greb1l |
A |
G |
18: 10,509,143 (GRCm39) |
E485G |
probably damaging |
Het |
Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
H6pd |
A |
G |
4: 150,066,241 (GRCm39) |
V715A |
probably benign |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kcnip1 |
T |
G |
11: 33,592,389 (GRCm39) |
|
probably benign |
Het |
Kif21b |
T |
C |
1: 136,098,881 (GRCm39) |
S1390P |
probably damaging |
Het |
Lrrc61 |
G |
A |
6: 48,545,308 (GRCm39) |
V44M |
probably damaging |
Het |
Map3k4 |
G |
T |
17: 12,490,497 (GRCm39) |
N311K |
probably damaging |
Het |
Mgat5 |
T |
C |
1: 127,387,658 (GRCm39) |
F538S |
possibly damaging |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Ndst1 |
A |
T |
18: 60,823,079 (GRCm39) |
L829Q |
probably damaging |
Het |
Neto1 |
A |
T |
18: 86,416,434 (GRCm39) |
H47L |
probably benign |
Het |
Or10ak11 |
T |
C |
4: 118,686,863 (GRCm39) |
Y258C |
probably benign |
Het |
Or10p22 |
A |
G |
10: 128,826,548 (GRCm39) |
T256A |
probably benign |
Het |
Or51r1 |
T |
C |
7: 102,228,481 (GRCm39) |
S260P |
probably damaging |
Het |
Or5p61 |
A |
T |
7: 107,758,480 (GRCm39) |
V200D |
probably benign |
Het |
Or6c214 |
A |
T |
10: 129,590,403 (GRCm39) |
C305* |
probably null |
Het |
Pds5b |
T |
C |
5: 150,717,062 (GRCm39) |
F1120L |
probably benign |
Het |
Phkb |
A |
G |
8: 86,604,874 (GRCm39) |
Y93C |
probably damaging |
Het |
Pilra |
C |
T |
5: 137,834,032 (GRCm39) |
|
probably benign |
Het |
Pmvk |
T |
C |
3: 89,375,878 (GRCm39) |
V146A |
probably benign |
Het |
Proz |
T |
A |
8: 13,116,854 (GRCm39) |
D135E |
probably benign |
Het |
Psg23 |
A |
T |
7: 18,345,997 (GRCm39) |
W233R |
probably benign |
Het |
Rgl2 |
A |
T |
17: 34,153,958 (GRCm39) |
I455F |
probably damaging |
Het |
Rhpn1 |
A |
G |
15: 75,580,054 (GRCm39) |
Q39R |
probably benign |
Het |
Rims4 |
T |
G |
2: 163,707,763 (GRCm39) |
M100L |
probably benign |
Het |
Sacs |
T |
A |
14: 61,430,963 (GRCm39) |
|
probably benign |
Het |
Slfn4 |
T |
C |
11: 83,080,055 (GRCm39) |
F189L |
probably benign |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Tmem127 |
T |
C |
2: 127,098,065 (GRCm39) |
Y129H |
probably damaging |
Het |
Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
Trpc3 |
A |
T |
3: 36,692,519 (GRCm39) |
|
probably benign |
Het |
Tsga10ip |
A |
T |
19: 5,444,363 (GRCm39) |
S23T |
probably benign |
Het |
Tut7 |
G |
A |
13: 59,939,666 (GRCm39) |
T695I |
probably damaging |
Het |
Uspl1 |
T |
C |
5: 149,151,556 (GRCm39) |
S720P |
probably damaging |
Het |
Zc3h18 |
A |
G |
8: 123,113,641 (GRCm39) |
D211G |
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 |
IGL03048:Zswim4
|
UTSW |
8 |
84,938,604 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
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'- ACTTGTAGCACTCGATCCAC -3'
(R):5'- ATGTTAACTATGAGCCAGGCAC -3'
Sequencing Primer
(F):5'- CAGCCCCACTCTGTAGCAG -3'
(R):5'- CATCCAAGCTGGTGTTGAAC -3'
|
Posted On |
2016-08-04 |