Incidental Mutation 'R4118:Zswim5'
| ID |
315164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim5
|
| Ensembl Gene |
ENSMUSG00000033948 |
| Gene Name |
zinc finger SWIM-type containing 5 |
| Synonyms |
4933426E21Rik |
| MMRRC Submission |
041631-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4118 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
116734573-116846461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116844016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1018
(R1018H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030446]
[ENSMUST00000044823]
[ENSMUST00000130273]
|
| AlphaFold |
Q80TC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030446
|
| SMART Domains |
Protein: ENSMUSP00000030446
Gene: ENSMUSG00000028684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:URO-D
|
14 |
360 |
2.4e-135 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044823
AA Change: R1018H
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049474
Gene: ENSMUSG00000033948
AA Change: R1018H
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130273
|
| SMART Domains |
Protein: ENSMUSP00000116154
Gene: ENSMUSG00000028684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:URO-D
|
1 |
64 |
1.2e-18 |
PFAM |
|
Pfam:URO-D
|
60 |
120 |
4e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135164
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150370
|
| Meta Mutation Damage Score |
0.3517 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
92% (55/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,373,503 (GRCm39) |
R31G |
possibly damaging |
Het |
| 4932414N04Rik |
C |
T |
2: 68,566,857 (GRCm39) |
R419C |
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,816,418 (GRCm39) |
E232G |
possibly damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,771,428 (GRCm39) |
K1245M |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,343,858 (GRCm39) |
L83P |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,793,044 (GRCm39) |
D1000G |
possibly damaging |
Het |
| Atxn7 |
T |
C |
14: 14,100,308 (GRCm38) |
S665P |
probably benign |
Het |
| Bbs4 |
T |
C |
9: 59,237,708 (GRCm39) |
Y212C |
possibly damaging |
Het |
| Cars1 |
A |
G |
7: 143,113,384 (GRCm39) |
|
probably null |
Het |
| Cep162 |
T |
C |
9: 87,086,229 (GRCm39) |
T1032A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,865,831 (GRCm39) |
E668K |
probably damaging |
Het |
| Dek |
T |
C |
13: 47,242,076 (GRCm39) |
T201A |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 33,121,979 (GRCm39) |
S1079T |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,896,180 (GRCm39) |
S646T |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,463,474 (GRCm39) |
S1339P |
probably damaging |
Het |
| Fat1 |
C |
A |
8: 45,503,981 (GRCm39) |
D4491E |
probably damaging |
Het |
| Gmps |
T |
C |
3: 63,887,615 (GRCm39) |
V29A |
probably benign |
Het |
| Gpr18 |
T |
C |
14: 122,149,968 (GRCm39) |
E19G |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,176,073 (GRCm39) |
T633A |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,055,532 (GRCm39) |
S317R |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,583,488 (GRCm39) |
M692K |
probably benign |
Het |
| Lrp12 |
A |
T |
15: 39,741,361 (GRCm39) |
C451* |
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,260,606 (GRCm39) |
|
probably null |
Het |
| Myrfl |
T |
A |
10: 116,664,870 (GRCm39) |
I387F |
probably damaging |
Het |
| Naglu |
G |
A |
11: 100,964,908 (GRCm39) |
V332I |
probably benign |
Het |
| Nat2 |
G |
A |
8: 67,954,271 (GRCm39) |
R127H |
possibly damaging |
Het |
| Otx2 |
G |
A |
14: 48,896,611 (GRCm39) |
T141I |
probably benign |
Het |
| Paqr9 |
T |
A |
9: 95,442,952 (GRCm39) |
I314N |
probably damaging |
Het |
| Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,698,819 (GRCm39) |
|
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,202,408 (GRCm39) |
D37G |
probably benign |
Het |
| Prdm9 |
T |
G |
17: 15,764,275 (GRCm39) |
D835A |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,547,781 (GRCm39) |
S206P |
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,976,194 (GRCm39) |
|
probably null |
Het |
| Rpgrip1l |
G |
A |
8: 91,979,535 (GRCm39) |
T969I |
probably benign |
Het |
| Rpp40 |
A |
G |
13: 36,080,787 (GRCm39) |
Y316H |
probably damaging |
Het |
| Serpinb3d |
A |
T |
1: 107,006,960 (GRCm39) |
D249E |
possibly damaging |
Het |
| Slc22a29 |
A |
C |
19: 8,137,893 (GRCm39) |
|
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,965,464 (GRCm39) |
M293T |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,204,027 (GRCm39) |
L98H |
probably damaging |
Het |
| Tiam1 |
C |
T |
16: 89,673,921 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
A |
G |
14: 50,600,684 (GRCm39) |
Y890C |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,868,074 (GRCm39) |
T194A |
probably benign |
Het |
| Ubap1 |
A |
T |
4: 41,371,767 (GRCm39) |
D26V |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,330,358 (GRCm39) |
N547K |
probably damaging |
Het |
| Wiz |
C |
T |
17: 32,588,331 (GRCm39) |
|
probably benign |
Het |
| Wwp2 |
A |
G |
8: 108,272,091 (GRCm39) |
T399A |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,740,829 (GRCm39) |
F479I |
possibly 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 |
|
|
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 |
|
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'- GCTATGAAGGATCCACAGAGC -3'
(R):5'- TGACATGAGCTTTCCGGAGC -3'
Sequencing Primer
(F):5'- ACAGAGCTGTGCCTTATCAG -3'
(R):5'- TATCAGAAAGCACTGTGGCAC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation