Incidental Mutation 'R8518:Zswim4'
ID |
656254 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zswim4
|
Ensembl Gene |
ENSMUSG00000035671 |
Gene Name |
zinc finger SWIM-type containing 4 |
Synonyms |
E130119J17Rik |
MMRRC Submission |
067850-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.202)
|
Stock # |
R8518 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
84937571-84963671 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 84938586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 1099
(R1099W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040078
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039480]
|
AlphaFold |
Q8C7B8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039480
AA Change: R1099W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040078 Gene: ENSMUSG00000035671 AA Change: R1099W
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
G |
16: 20,223,398 (GRCm39) |
V170A |
possibly damaging |
Het |
Adamts2 |
A |
G |
11: 50,666,957 (GRCm39) |
E418G |
probably damaging |
Het |
Adra2b |
T |
C |
2: 127,206,056 (GRCm39) |
L191P |
probably damaging |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Bag2 |
T |
C |
1: 33,787,358 (GRCm39) |
I55V |
probably benign |
Het |
Bltp2 |
T |
C |
11: 78,156,064 (GRCm39) |
L192P |
possibly damaging |
Het |
Bmpr1b |
T |
C |
3: 141,563,343 (GRCm39) |
I200M |
possibly damaging |
Het |
Cacna1i |
C |
A |
15: 80,243,095 (GRCm39) |
Y417* |
probably null |
Het |
Cdc7 |
T |
A |
5: 107,120,864 (GRCm39) |
I162N |
probably damaging |
Het |
Chchd1 |
T |
C |
14: 20,754,211 (GRCm39) |
I89T |
probably benign |
Het |
Cxcl16 |
T |
C |
11: 70,346,510 (GRCm39) |
N224S |
probably benign |
Het |
Dync1i1 |
T |
G |
6: 5,913,330 (GRCm39) |
L188V |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,051,452 (GRCm39) |
V3161A |
probably benign |
Het |
E2f3 |
T |
A |
13: 30,097,453 (GRCm39) |
K303N |
probably damaging |
Het |
Fermt1 |
T |
C |
2: 132,748,635 (GRCm39) |
T663A |
probably benign |
Het |
Fhod3 |
A |
G |
18: 25,189,390 (GRCm39) |
R611G |
probably damaging |
Het |
Frem3 |
A |
T |
8: 81,339,224 (GRCm39) |
S506C |
probably damaging |
Het |
Gm10318 |
T |
A |
10: 77,688,712 (GRCm39) |
M6K |
unknown |
Het |
Gm6563 |
T |
A |
19: 23,653,480 (GRCm39) |
V90E |
probably damaging |
Het |
Gpc6 |
T |
C |
14: 117,163,384 (GRCm39) |
S13P |
probably benign |
Het |
Gpr107 |
C |
A |
2: 31,066,939 (GRCm39) |
H196Q |
probably benign |
Het |
Heatr1 |
T |
G |
13: 12,425,415 (GRCm39) |
D618E |
probably benign |
Het |
Lrrc27 |
T |
C |
7: 138,808,690 (GRCm39) |
V391A |
probably benign |
Het |
Mindy3 |
T |
G |
2: 12,360,154 (GRCm39) |
K349N |
probably damaging |
Het |
Mllt10 |
T |
C |
2: 18,151,670 (GRCm39) |
V261A |
probably damaging |
Het |
Mrpl48 |
G |
A |
7: 100,232,269 (GRCm39) |
|
probably benign |
Het |
Msantd5f5 |
T |
A |
4: 73,542,641 (GRCm39) |
L47Q |
probably damaging |
Het |
Muc16 |
T |
C |
9: 18,430,927 (GRCm39) |
I8062V |
probably benign |
Het |
Myo7a |
T |
C |
7: 97,740,270 (GRCm39) |
N575D |
possibly damaging |
Het |
Nfrkb |
T |
C |
9: 31,311,261 (GRCm39) |
L370P |
probably damaging |
Het |
Numbl |
T |
C |
7: 26,964,361 (GRCm39) |
V57A |
probably benign |
Het |
Or51t4 |
T |
C |
7: 102,597,804 (GRCm39) |
V44A |
probably damaging |
Het |
Or5b12 |
G |
A |
19: 12,896,959 (GRCm39) |
T238I |
probably damaging |
Het |
Or6y1 |
T |
A |
1: 174,276,742 (GRCm39) |
C184* |
probably null |
Het |
Pdia2 |
A |
T |
17: 26,417,144 (GRCm39) |
L100* |
probably null |
Het |
Prpf31 |
A |
T |
7: 3,635,742 (GRCm39) |
N105I |
probably damaging |
Het |
Rbm20 |
A |
G |
19: 53,839,923 (GRCm39) |
N971D |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,353,043 (GRCm39) |
M3980K |
|
Het |
Skint6 |
A |
G |
4: 113,095,465 (GRCm39) |
F65L |
possibly damaging |
Het |
Smpd4 |
T |
A |
16: 17,458,884 (GRCm39) |
C536S |
possibly damaging |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tfpt |
A |
G |
7: 3,632,065 (GRCm39) |
F15S |
possibly damaging |
Het |
Tnp2 |
A |
G |
16: 10,606,372 (GRCm39) |
C32R |
possibly damaging |
Het |
Tns3 |
A |
T |
11: 8,442,971 (GRCm39) |
V464E |
probably damaging |
Het |
Tpp2 |
T |
A |
1: 44,019,545 (GRCm39) |
L824H |
probably damaging |
Het |
Trav15-1-dv6-1 |
A |
G |
14: 53,797,666 (GRCm39) |
D105G |
probably benign |
Het |
Ttc3 |
T |
C |
16: 94,258,238 (GRCm39) |
S1679P |
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,944,837 (GRCm39) |
Y19H |
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 |
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 |
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 |
2020-10-20 |