Incidental Mutation 'R6159:Zswim5'
ID |
489740 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zswim5
|
Ensembl Gene |
ENSMUSG00000033948 |
Gene Name |
zinc finger SWIM-type containing 5 |
Synonyms |
4933426E21Rik |
MMRRC Submission |
044306-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6159 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
116734573-116846461 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116836876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 720
(L720P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044823]
|
AlphaFold |
Q80TC6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044823
AA Change: L720P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049474 Gene: ENSMUSG00000033948 AA Change: L720P
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: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
96% (54/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahcyl2 |
A |
C |
6: 29,908,457 (GRCm39) |
N609T |
possibly damaging |
Het |
Ankzf1 |
G |
A |
1: 75,170,888 (GRCm39) |
C98Y |
probably damaging |
Het |
Atg101 |
T |
A |
15: 101,188,519 (GRCm39) |
M208K |
possibly damaging |
Het |
Baiap2l2 |
A |
G |
15: 79,143,930 (GRCm39) |
I388T |
probably benign |
Het |
Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
Chrnd |
T |
A |
1: 87,118,812 (GRCm39) |
D56E |
probably benign |
Het |
Col28a1 |
A |
T |
6: 8,162,247 (GRCm39) |
|
probably null |
Het |
Col4a1 |
G |
T |
8: 11,270,007 (GRCm39) |
P899Q |
probably damaging |
Het |
Cts3 |
C |
A |
13: 61,714,655 (GRCm39) |
A217S |
probably damaging |
Het |
Dab2 |
A |
G |
15: 6,465,941 (GRCm39) |
N495S |
possibly damaging |
Het |
Dnah2 |
T |
A |
11: 69,349,368 (GRCm39) |
I2423F |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dock6 |
T |
C |
9: 21,733,041 (GRCm39) |
H1053R |
probably benign |
Het |
Eif1ad14 |
G |
A |
12: 87,886,521 (GRCm39) |
A36V |
probably damaging |
Het |
Fam184a |
G |
A |
10: 53,574,869 (GRCm39) |
L191F |
probably damaging |
Het |
Fbxl9 |
T |
C |
8: 106,049,925 (GRCm39) |
Y33C |
probably damaging |
Het |
Fip1l1 |
C |
T |
5: 74,752,608 (GRCm39) |
R472W |
probably damaging |
Het |
Gbp2 |
T |
C |
3: 142,338,018 (GRCm39) |
F378S |
probably damaging |
Het |
Ggt1 |
A |
T |
10: 75,420,799 (GRCm39) |
E388V |
probably damaging |
Het |
Gm14496 |
A |
G |
2: 181,638,050 (GRCm39) |
T375A |
probably benign |
Het |
Gm43302 |
A |
G |
5: 105,436,894 (GRCm39) |
S71P |
probably benign |
Het |
Gnrhr |
G |
T |
5: 86,330,216 (GRCm39) |
T268K |
probably damaging |
Het |
Htt |
T |
C |
5: 34,962,020 (GRCm39) |
V335A |
probably benign |
Het |
Klhl20 |
A |
T |
1: 160,933,037 (GRCm39) |
L257H |
probably damaging |
Het |
Med27 |
C |
A |
2: 29,414,376 (GRCm39) |
|
probably null |
Het |
Muc5ac |
T |
A |
7: 141,369,323 (GRCm39) |
C2433S |
possibly damaging |
Het |
Nasp |
A |
G |
4: 116,461,086 (GRCm39) |
|
probably null |
Het |
Nipal2 |
A |
C |
15: 34,600,172 (GRCm39) |
V215G |
probably damaging |
Het |
Or10al5 |
A |
T |
17: 38,063,038 (GRCm39) |
I98F |
probably damaging |
Het |
Or9i1b |
C |
T |
19: 13,897,104 (GRCm39) |
T240I |
probably damaging |
Het |
Oxct2b |
G |
A |
4: 123,011,244 (GRCm39) |
R388H |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,774,240 (GRCm39) |
I469V |
possibly damaging |
Het |
Phyhip |
A |
G |
14: 70,704,294 (GRCm39) |
H171R |
possibly damaging |
Het |
Pigs |
C |
T |
11: 78,219,326 (GRCm39) |
T9M |
probably benign |
Het |
Plek |
T |
C |
11: 16,935,539 (GRCm39) |
D256G |
probably damaging |
Het |
Prss50 |
T |
C |
9: 110,693,371 (GRCm39) |
V369A |
probably benign |
Het |
Psmc5 |
A |
G |
11: 106,152,088 (GRCm39) |
K82E |
possibly damaging |
Het |
Qrsl1 |
A |
T |
10: 43,758,189 (GRCm39) |
F301L |
probably benign |
Het |
Rasal1 |
T |
C |
5: 120,797,673 (GRCm39) |
L135P |
probably damaging |
Het |
Rbm47 |
A |
G |
5: 66,184,159 (GRCm39) |
V148A |
probably damaging |
Het |
Scyl1 |
T |
A |
19: 5,814,785 (GRCm39) |
D381V |
probably benign |
Het |
Selplg |
G |
T |
5: 113,957,162 (GRCm39) |
D381E |
probably benign |
Het |
Sh3rf2 |
C |
A |
18: 42,289,200 (GRCm39) |
Q674K |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,210,659 (GRCm39) |
T987A |
probably benign |
Het |
Sntb1 |
A |
G |
15: 55,539,698 (GRCm39) |
|
probably null |
Het |
Synj2 |
A |
T |
17: 6,036,327 (GRCm39) |
I14F |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,926,440 (GRCm39) |
M170K |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,607,096 (GRCm39) |
E211G |
possibly damaging |
Het |
Thnsl1 |
G |
T |
2: 21,217,016 (GRCm39) |
E257* |
probably null |
Het |
Tlr4 |
A |
G |
4: 66,758,070 (GRCm39) |
R288G |
possibly damaging |
Het |
Trbc1 |
T |
C |
6: 41,515,385 (GRCm39) |
|
probably benign |
Het |
Trim37 |
G |
A |
11: 87,107,374 (GRCm39) |
|
probably null |
Het |
Txnrd3 |
T |
C |
6: 89,640,176 (GRCm39) |
|
probably null |
Het |
Tyk2 |
C |
A |
9: 21,021,800 (GRCm39) |
Q875H |
probably damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,385,698 (GRCm39) |
Y761H |
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 |
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'- GCCCAAACAGCAATGAGTCG -3'
(R):5'- ACAGATACTTTGCAAAGGTGTGC -3'
Sequencing Primer
(F):5'- AGCAATGAGTCGTACCTGTC -3'
(R):5'- AACACTCTCCCGGTGGATGAC -3'
|
Posted On |
2017-10-10 |