Incidental Mutation 'R6042:Zswim5'
| ID |
483602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim5
|
| Ensembl Gene |
ENSMUSG00000033948 |
| Gene Name |
zinc finger SWIM-type containing 5 |
| Synonyms |
4933426E21Rik |
| MMRRC Submission |
044210-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6042 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
116734573-116846461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 116819818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 408
(S408R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044823]
|
| AlphaFold |
Q80TC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044823
AA Change: S408R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000049474
Gene: ENSMUSG00000033948
AA Change: S408R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
995 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,224,023 (GRCm39) |
K478M |
probably benign |
Het |
| Ankar |
G |
T |
1: 72,713,213 (GRCm39) |
S474* |
probably null |
Het |
| Barx2 |
C |
A |
9: 31,758,199 (GRCm39) |
E246D |
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,065,997 (GRCm39) |
Q757L |
probably damaging |
Het |
| Cnr1 |
T |
C |
4: 33,944,751 (GRCm39) |
F380L |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,318,317 (GRCm39) |
A655T |
probably benign |
Het |
| Col2a1 |
T |
A |
15: 97,898,451 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
C |
T |
16: 59,370,838 (GRCm39) |
R2340Q |
possibly damaging |
Het |
| Ctsb |
G |
T |
14: 63,379,305 (GRCm39) |
D306Y |
probably damaging |
Het |
| Cyp2a22 |
A |
C |
7: 26,633,664 (GRCm39) |
Y349D |
probably damaging |
Het |
| Dcpp2 |
T |
C |
17: 24,117,886 (GRCm39) |
L22S |
probably damaging |
Het |
| Dnah8 |
G |
T |
17: 30,966,239 (GRCm39) |
M2476I |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,228,053 (GRCm39) |
E1882G |
probably damaging |
Het |
| Esrp1 |
T |
C |
4: 11,357,580 (GRCm39) |
K511E |
possibly damaging |
Het |
| Fat3 |
T |
A |
9: 16,289,113 (GRCm39) |
T137S |
probably benign |
Het |
| Fbxw24 |
T |
A |
9: 109,436,079 (GRCm39) |
M318L |
probably benign |
Het |
| Fpr-rs7 |
T |
A |
17: 20,333,477 (GRCm39) |
T338S |
probably benign |
Het |
| Gcgr |
T |
C |
11: 120,425,584 (GRCm39) |
M1T |
probably null |
Het |
| Grifin |
C |
A |
5: 140,549,311 (GRCm39) |
R135L |
possibly damaging |
Het |
| Helz |
T |
C |
11: 107,504,946 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
C |
G |
4: 119,955,061 (GRCm39) |
Q1126E |
possibly damaging |
Het |
| Htr3a |
T |
A |
9: 48,815,999 (GRCm39) |
H146L |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,707,311 (GRCm39) |
V3081E |
probably damaging |
Het |
| Mgat5 |
T |
A |
1: 127,387,636 (GRCm39) |
C531S |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,979,619 (GRCm39) |
D106G |
probably benign |
Het |
| Nectin2 |
C |
T |
7: 19,472,063 (GRCm39) |
A109T |
probably benign |
Het |
| Olig3 |
T |
C |
10: 19,232,503 (GRCm39) |
S43P |
probably damaging |
Het |
| Or5an9 |
A |
T |
19: 12,187,286 (GRCm39) |
M119L |
probably damaging |
Het |
| Or8b39 |
T |
A |
9: 37,996,390 (GRCm39) |
V86E |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,414,558 (GRCm39) |
R856G |
probably damaging |
Het |
| Phpt1 |
T |
A |
2: 25,464,851 (GRCm39) |
M1L |
probably benign |
Het |
| Polr2m |
T |
C |
9: 71,391,080 (GRCm39) |
I41V |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,692,631 (GRCm39) |
D123E |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,500,977 (GRCm39) |
V127A |
possibly damaging |
Het |
| Rgs7 |
G |
T |
1: 174,977,226 (GRCm39) |
T126K |
probably damaging |
Het |
| RP23-399J5.1 |
T |
C |
8: 71,542,571 (GRCm39) |
|
noncoding transcript |
Het |
| Rras |
A |
T |
7: 44,669,820 (GRCm39) |
D112V |
probably damaging |
Het |
| Sdcbp2 |
T |
A |
2: 151,424,646 (GRCm39) |
Y5* |
probably null |
Het |
| Slc43a2 |
T |
C |
11: 75,461,433 (GRCm39) |
F462L |
probably damaging |
Het |
| Smchd1 |
T |
A |
17: 71,684,052 (GRCm39) |
K1436* |
probably null |
Het |
| Snrnp27 |
A |
C |
6: 86,659,902 (GRCm39) |
S31A |
unknown |
Het |
| Sqstm1 |
A |
C |
11: 50,098,251 (GRCm39) |
F172V |
probably benign |
Het |
| Stk32b |
T |
A |
5: 37,806,458 (GRCm39) |
I29F |
probably damaging |
Het |
| Syt10 |
G |
A |
15: 89,725,824 (GRCm39) |
T50I |
probably benign |
Het |
| Syt16 |
T |
C |
12: 74,313,504 (GRCm39) |
Y477H |
probably damaging |
Het |
| Tacr3 |
A |
T |
3: 134,638,153 (GRCm39) |
T437S |
probably benign |
Het |
| Tg |
G |
A |
15: 66,555,842 (GRCm39) |
D845N |
probably benign |
Het |
| Uqcc1 |
G |
T |
2: 155,763,564 (GRCm39) |
S36R |
possibly damaging |
Het |
| Vmn1r20 |
T |
C |
6: 57,409,391 (GRCm39) |
V239A |
possibly damaging |
Het |
| Xpo7 |
T |
A |
14: 70,933,103 (GRCm39) |
Q263L |
possibly damaging |
Het |
| Zfp442 |
T |
C |
2: 150,250,016 (GRCm39) |
K572E |
probably damaging |
Het |
|
| Other mutations in Zswim5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00753:Zswim5
|
APN |
4 |
116,842,933 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01700:Zswim5
|
APN |
4 |
116,843,658 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01975:Zswim5
|
APN |
4 |
116,822,889 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02334:Zswim5
|
APN |
4 |
116,843,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02505:Zswim5
|
APN |
4 |
116,819,749 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02712:Zswim5
|
APN |
4 |
116,842,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4243001:Zswim5
|
UTSW |
4 |
116,841,975 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0324:Zswim5
|
UTSW |
4 |
116,844,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0611:Zswim5
|
UTSW |
4 |
116,843,874 (GRCm39) |
splice site |
probably null |
|
|
R0730:Zswim5
|
UTSW |
4 |
116,842,943 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1663:Zswim5
|
UTSW |
4 |
116,844,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Zswim5
|
UTSW |
4 |
116,734,896 (GRCm39) |
missense |
unknown |
|
|
R2070:Zswim5
|
UTSW |
4 |
116,837,109 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2176:Zswim5
|
UTSW |
4 |
116,830,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3715:Zswim5
|
UTSW |
4 |
116,819,755 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4044:Zswim5
|
UTSW |
4 |
116,843,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4063:Zswim5
|
UTSW |
4 |
116,735,177 (GRCm39) |
missense |
unknown |
|
|
R4118:Zswim5
|
UTSW |
4 |
116,844,016 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4612:Zswim5
|
UTSW |
4 |
116,843,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Zswim5
|
UTSW |
4 |
116,830,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4799:Zswim5
|
UTSW |
4 |
116,830,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4983:Zswim5
|
UTSW |
4 |
116,842,883 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5294:Zswim5
|
UTSW |
4 |
116,836,774 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5836:Zswim5
|
UTSW |
4 |
116,842,000 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6025:Zswim5
|
UTSW |
4 |
116,808,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Zswim5
|
UTSW |
4 |
116,819,818 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6043:Zswim5
|
UTSW |
4 |
116,819,818 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6159:Zswim5
|
UTSW |
4 |
116,836,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6198:Zswim5
|
UTSW |
4 |
116,735,204 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6415:Zswim5
|
UTSW |
4 |
116,838,063 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6442:Zswim5
|
UTSW |
4 |
116,808,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6547:Zswim5
|
UTSW |
4 |
116,844,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6616:Zswim5
|
UTSW |
4 |
116,843,938 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6745:Zswim5
|
UTSW |
4 |
116,832,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Zswim5
|
UTSW |
4 |
116,833,173 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7260:Zswim5
|
UTSW |
4 |
116,819,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Zswim5
|
UTSW |
4 |
116,833,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Zswim5
|
UTSW |
4 |
116,841,885 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7326:Zswim5
|
UTSW |
4 |
116,838,031 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7429:Zswim5
|
UTSW |
4 |
116,833,054 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7430:Zswim5
|
UTSW |
4 |
116,833,054 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7607:Zswim5
|
UTSW |
4 |
116,843,939 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7811:Zswim5
|
UTSW |
4 |
116,734,673 (GRCm39) |
missense |
unknown |
|
|
R7993:Zswim5
|
UTSW |
4 |
116,808,291 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8221:Zswim5
|
UTSW |
4 |
116,735,219 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8341:Zswim5
|
UTSW |
4 |
116,843,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8433:Zswim5
|
UTSW |
4 |
116,844,007 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8690:Zswim5
|
UTSW |
4 |
116,842,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8766:Zswim5
|
UTSW |
4 |
116,816,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8808:Zswim5
|
UTSW |
4 |
116,822,887 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9175:Zswim5
|
UTSW |
4 |
116,822,941 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9354:Zswim5
|
UTSW |
4 |
116,844,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9639:Zswim5
|
UTSW |
4 |
116,836,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACTATGCAAGCACATCATCTC -3'
(R):5'- AAGGCTCACTGCTGCAGAAG -3'
Sequencing Primer
(F):5'- AGCACATCATCTCCTCAATCTG -3'
(R):5'- GCAATGAAGTGAGATTAGGAAACTTC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation