Incidental Mutation 'R7811:Zswim5'
| ID |
601150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim5
|
| Ensembl Gene |
ENSMUSG00000033948 |
| Gene Name |
zinc finger SWIM-type containing 5 |
| Synonyms |
4933426E21Rik |
| MMRRC Submission |
045866-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7811 (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 G
at 116734673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 6
(E6G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044823]
|
| AlphaFold |
Q80TC6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000044823
AA Change: E6G
|
| SMART Domains |
Protein: ENSMUSP00000049474
Gene: ENSMUSG00000033948
AA Change: E6G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,527,141 (GRCm39) |
|
probably null |
Het |
| Abca3 |
A |
G |
17: 24,616,362 (GRCm39) |
T935A |
probably benign |
Het |
| Anxa7 |
A |
T |
14: 20,510,254 (GRCm39) |
Y399N |
probably benign |
Het |
| Arhgef10l |
G |
T |
4: 140,242,335 (GRCm39) |
T1030K |
possibly damaging |
Het |
| Ass1 |
G |
A |
2: 31,404,753 (GRCm39) |
V345I |
probably benign |
Het |
| Bms1 |
T |
C |
6: 118,380,099 (GRCm39) |
D736G |
probably damaging |
Het |
| Bpifb1 |
T |
A |
2: 154,048,484 (GRCm39) |
|
probably null |
Het |
| Cbx4 |
A |
C |
11: 118,972,398 (GRCm39) |
C326G |
probably benign |
Het |
| Ccdc188 |
A |
G |
16: 18,036,314 (GRCm39) |
E94G |
probably benign |
Het |
| Cdh5 |
A |
G |
8: 104,852,235 (GRCm39) |
T117A |
possibly damaging |
Het |
| Cdk11b |
A |
G |
4: 155,724,359 (GRCm39) |
T326A |
unknown |
Het |
| Clec5a |
C |
T |
6: 40,558,867 (GRCm39) |
C73Y |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,052,873 (GRCm39) |
M1126T |
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,219,060 (GRCm39) |
D455G |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,920,047 (GRCm39) |
M117K |
probably benign |
Het |
| Ern1 |
A |
T |
11: 106,325,694 (GRCm39) |
V112D |
unknown |
Het |
| Eya3 |
T |
C |
4: 132,439,272 (GRCm39) |
I466T |
possibly damaging |
Het |
| Fbxl6 |
T |
C |
15: 76,421,485 (GRCm39) |
|
probably null |
Het |
| Ffar1 |
A |
G |
7: 30,560,802 (GRCm39) |
S32P |
possibly damaging |
Het |
| Fgb |
T |
C |
3: 82,957,004 (GRCm39) |
D22G |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,828,797 (GRCm39) |
Y6865H |
possibly damaging |
Het |
| Gbx1 |
T |
C |
5: 24,710,035 (GRCm39) |
E270G |
probably damaging |
Het |
| Golga4 |
T |
C |
9: 118,361,643 (GRCm39) |
L207P |
probably damaging |
Het |
| Hnrnpa1 |
T |
C |
15: 103,149,900 (GRCm39) |
S54P |
possibly damaging |
Het |
| Htr4 |
A |
G |
18: 62,545,269 (GRCm39) |
E18G |
possibly damaging |
Het |
| Ide |
A |
C |
19: 37,307,910 (GRCm39) |
L34R |
|
Het |
| Ip6k3 |
A |
T |
17: 27,376,557 (GRCm39) |
Y51* |
probably null |
Het |
| Keap1 |
A |
G |
9: 21,148,956 (GRCm39) |
L17P |
possibly damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,866,939 (GRCm39) |
V668A |
probably benign |
Het |
| Lypd8 |
A |
T |
11: 58,281,064 (GRCm39) |
T209S |
possibly damaging |
Het |
| Myo10 |
T |
C |
15: 25,804,610 (GRCm39) |
I1635T |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,234,544 (GRCm39) |
V299E |
probably damaging |
Het |
| Nadk |
A |
T |
4: 155,661,332 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,536,357 (GRCm39) |
W1231R |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,859,148 (GRCm39) |
T602A |
probably benign |
Het |
| Or13g1 |
T |
A |
7: 85,955,554 (GRCm39) |
T256S |
probably damaging |
Het |
| Or2r3 |
T |
A |
6: 42,448,635 (GRCm39) |
E159V |
probably damaging |
Het |
| Pde6c |
T |
C |
19: 38,128,507 (GRCm39) |
V190A |
possibly damaging |
Het |
| Ppp4r3a |
C |
A |
12: 101,019,821 (GRCm39) |
R378L |
probably damaging |
Het |
| Pus7l |
A |
C |
15: 94,438,707 (GRCm39) |
V46G |
probably damaging |
Het |
| Satb2 |
G |
A |
1: 56,884,880 (GRCm39) |
S466L |
probably benign |
Het |
| Serpina6 |
A |
G |
12: 103,620,395 (GRCm39) |
M118T |
probably damaging |
Het |
| Slc29a1 |
T |
C |
17: 45,897,189 (GRCm39) |
R366G |
probably damaging |
Het |
| Slc6a1 |
T |
C |
6: 114,279,515 (GRCm39) |
F98S |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,824,164 (GRCm39) |
I738T |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,141,221 (GRCm39) |
V1667A |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,684,248 (GRCm39) |
N574S |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,030,501 (GRCm39) |
|
probably null |
Het |
| Tbc1d10a |
T |
C |
11: 4,136,948 (GRCm39) |
S54P |
possibly damaging |
Het |
| Trim12c |
T |
C |
7: 103,990,469 (GRCm39) |
N336S |
unknown |
Het |
| Ubap2 |
T |
C |
4: 41,211,710 (GRCm39) |
S351G |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,600,553 (GRCm39) |
A1397E |
possibly damaging |
Het |
| Ush1c |
G |
A |
7: 45,854,710 (GRCm39) |
R681* |
probably null |
Het |
| Vmn2r57 |
A |
T |
7: 41,074,439 (GRCm39) |
C541* |
probably null |
Het |
| Vmn2r73 |
T |
C |
7: 85,524,956 (GRCm39) |
D64G |
possibly damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,656,160 (GRCm39) |
T790S |
|
Het |
| Zfp568 |
A |
G |
7: 29,697,295 (GRCm39) |
T72A |
possibly damaging |
Het |
| Zfp950 |
A |
T |
19: 61,108,353 (GRCm39) |
Y243* |
probably null |
Het |
| Zmym5 |
A |
G |
14: 57,036,434 (GRCm39) |
S238P |
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 |
|
R6042: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 |
|
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'- CTTTTCATTTGGCCACGCGG -3'
(R):5'- AGTACATGCAGATCTCCCGCTC -3'
Sequencing Primer
(F):5'- AGCGCTCGGATTGTGTTCC -3'
(R):5'- ACCAGTAGACGATGCGGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation