Incidental Mutation 'R5341:Zswim8'
| ID |
422350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim8
|
| Ensembl Gene |
ENSMUSG00000021819 |
| Gene Name |
zinc finger SWIM-type containing 8 |
| Synonyms |
2310021P13Rik, 4832404P21Rik |
| MMRRC Submission |
042920-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R5341 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20757620-20773687 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20766122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 803
(D803N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153285
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022358]
[ENSMUST00000223840]
[ENSMUST00000224129]
[ENSMUST00000224751]
|
| AlphaFold |
Q3UHH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022358
AA Change: D803N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: D803N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
736 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1120 |
1135 |
N/A |
INTRINSIC |
|
low complexity region
|
1176 |
1211 |
N/A |
INTRINSIC |
|
low complexity region
|
1259 |
1270 |
N/A |
INTRINSIC |
|
low complexity region
|
1343 |
1355 |
N/A |
INTRINSIC |
|
low complexity region
|
1470 |
1487 |
N/A |
INTRINSIC |
|
low complexity region
|
1491 |
1511 |
N/A |
INTRINSIC |
|
low complexity region
|
1527 |
1542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223782
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223840
AA Change: D769N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224485
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224751
AA Change: D803N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225715
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225010
|
| Meta Mutation Damage Score |
0.0673 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
97% (64/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
G |
10: 85,223,236 (GRCm39) |
D15G |
unknown |
Het |
| Actr5 |
C |
A |
2: 158,467,144 (GRCm39) |
S28* |
probably null |
Het |
| Adcy1 |
A |
C |
11: 7,080,375 (GRCm39) |
M373L |
probably damaging |
Het |
| Adcyap1r1 |
C |
G |
6: 55,455,054 (GRCm39) |
F111L |
probably benign |
Het |
| Arid5b |
A |
T |
10: 68,113,957 (GRCm39) |
F27I |
possibly damaging |
Het |
| Art5 |
C |
A |
7: 101,747,306 (GRCm39) |
V158L |
probably benign |
Het |
| Bora |
T |
A |
14: 99,305,530 (GRCm39) |
Y300N |
probably damaging |
Het |
| Cd300a |
A |
G |
11: 114,784,288 (GRCm39) |
T99A |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,381,431 (GRCm39) |
Y607C |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,328,406 (GRCm39) |
|
probably null |
Het |
| Cpxm2 |
T |
A |
7: 131,756,342 (GRCm39) |
|
probably benign |
Het |
| Cstdc7 |
A |
G |
18: 42,306,496 (GRCm39) |
D21G |
possibly damaging |
Het |
| Dhx8 |
AGACCGGGACCGGGACCGGGACCGGGAC |
AGACCGGGACCGGGACCGGGAC |
11: 101,629,016 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,219,534 (GRCm39) |
E136G |
possibly damaging |
Het |
| Enox1 |
A |
C |
14: 77,815,096 (GRCm39) |
T85P |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,055,926 (GRCm39) |
L158P |
probably damaging |
Het |
| Gbgt1 |
C |
A |
2: 28,395,019 (GRCm39) |
T219N |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,225,707 (GRCm39) |
D373G |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,008,336 (GRCm39) |
Q1645K |
possibly damaging |
Het |
| Iqce |
A |
C |
5: 140,675,814 (GRCm39) |
M114R |
possibly damaging |
Het |
| Lmbrd1 |
A |
T |
1: 24,785,892 (GRCm39) |
K396* |
probably null |
Het |
| Lrrk2 |
A |
T |
15: 91,657,061 (GRCm39) |
D1785V |
probably damaging |
Het |
| Matcap1 |
A |
T |
8: 106,011,687 (GRCm39) |
M226K |
probably damaging |
Het |
| Mcmdc2 |
ATAAAAAAAAAGGAAAAATTACCTT |
AT |
1: 10,011,142 (GRCm39) |
|
probably null |
Het |
| Mepce |
A |
G |
5: 137,781,522 (GRCm39) |
V564A |
probably damaging |
Het |
| Mmp17 |
A |
T |
5: 129,679,193 (GRCm39) |
D364V |
possibly damaging |
Het |
| Mrgpre |
T |
C |
7: 143,335,246 (GRCm39) |
N86D |
probably benign |
Het |
| Ms4a20 |
T |
C |
19: 11,087,745 (GRCm39) |
|
probably benign |
Het |
| Or2r11 |
A |
T |
6: 42,437,098 (GRCm39) |
L285Q |
probably damaging |
Het |
| Or4f53 |
T |
A |
2: 111,087,982 (GRCm39) |
I174K |
probably damaging |
Het |
| Pate11 |
A |
T |
9: 36,388,357 (GRCm39) |
K61* |
probably null |
Het |
| Pax5 |
T |
C |
4: 44,697,630 (GRCm39) |
D35G |
probably damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,281,440 (GRCm39) |
T473S |
probably benign |
Het |
| Pkd2l2 |
A |
G |
18: 34,542,987 (GRCm39) |
|
probably null |
Het |
| Pygo2 |
C |
A |
3: 89,340,067 (GRCm39) |
P155Q |
probably damaging |
Het |
| Rb1cc1 |
G |
T |
1: 6,285,266 (GRCm39) |
|
probably benign |
Het |
| Rbpj |
A |
G |
5: 53,799,425 (GRCm39) |
E80G |
possibly damaging |
Het |
| Sbno1 |
A |
C |
5: 124,546,538 (GRCm39) |
|
probably null |
Het |
| Slc1a1 |
T |
A |
19: 28,874,968 (GRCm39) |
V182E |
probably benign |
Het |
| Slc34a3 |
A |
T |
2: 25,120,671 (GRCm39) |
F419I |
probably benign |
Het |
| Snx8 |
A |
G |
5: 140,343,886 (GRCm39) |
V62A |
probably damaging |
Het |
| Sp9 |
T |
C |
2: 73,104,858 (GRCm39) |
S471P |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,436,549 (GRCm39) |
S1270C |
probably damaging |
Het |
| Stk11 |
A |
T |
10: 79,962,094 (GRCm39) |
T83S |
probably benign |
Het |
| Syt13 |
A |
G |
2: 92,783,897 (GRCm39) |
E389G |
probably benign |
Het |
| Taf10 |
T |
C |
7: 105,390,139 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,937,705 (GRCm39) |
S801R |
possibly damaging |
Het |
| Thoc2l |
A |
T |
5: 104,665,942 (GRCm39) |
T155S |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,083,047 (GRCm39) |
F628L |
possibly damaging |
Het |
| Tmem171 |
G |
T |
13: 98,824,956 (GRCm39) |
P225T |
probably damaging |
Het |
| Tspan12 |
A |
T |
6: 21,835,458 (GRCm39) |
C72S |
possibly damaging |
Het |
| Txk |
T |
C |
5: 72,853,964 (GRCm39) |
T458A |
probably benign |
Het |
| Txndc9 |
A |
G |
1: 38,026,704 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
C |
A |
1: 169,971,000 (GRCm39) |
C464F |
probably damaging |
Het |
| Ugt2b36 |
A |
T |
5: 87,240,087 (GRCm39) |
Y99* |
probably null |
Het |
| Usp35 |
T |
C |
7: 96,975,134 (GRCm39) |
Y13C |
probably damaging |
Het |
| Vmn1r6 |
T |
G |
6: 56,979,789 (GRCm39) |
N128K |
probably damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,497,788 (GRCm39) |
I484L |
probably benign |
Het |
| Zdbf2 |
T |
A |
1: 63,347,092 (GRCm39) |
S1824T |
probably benign |
Het |
| Zdhhc4 |
A |
G |
5: 143,311,915 (GRCm39) |
V19A |
probably benign |
Het |
| Zfp955b |
C |
T |
17: 33,524,095 (GRCm39) |
|
probably benign |
Het |
| Zfp97 |
T |
A |
17: 17,365,472 (GRCm39) |
C324S |
probably damaging |
Het |
|
| Other mutations in Zswim8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Zswim8
|
APN |
14 |
20,768,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00470:Zswim8
|
APN |
14 |
20,773,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00675:Zswim8
|
APN |
14 |
20,766,969 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00896:Zswim8
|
APN |
14 |
20,766,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01343:Zswim8
|
APN |
14 |
20,763,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01736:Zswim8
|
APN |
14 |
20,764,780 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01961:Zswim8
|
APN |
14 |
20,762,402 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02331:Zswim8
|
APN |
14 |
20,773,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02485:Zswim8
|
APN |
14 |
20,761,955 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02662:Zswim8
|
APN |
14 |
20,763,142 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03001:Zswim8
|
APN |
14 |
20,764,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pool
|
UTSW |
14 |
20,764,641 (GRCm39) |
splice site |
probably null |
|
|
R0123:Zswim8
|
UTSW |
14 |
20,766,558 (GRCm39) |
splice site |
probably benign |
|
|
R0362:Zswim8
|
UTSW |
14 |
20,772,013 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0402:Zswim8
|
UTSW |
14 |
20,760,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Zswim8
|
UTSW |
14 |
20,768,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1087:Zswim8
|
UTSW |
14 |
20,767,933 (GRCm39) |
splice site |
probably null |
|
|
R1158:Zswim8
|
UTSW |
14 |
20,771,736 (GRCm39) |
splice site |
probably benign |
|
|
R1171:Zswim8
|
UTSW |
14 |
20,763,181 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1389:Zswim8
|
UTSW |
14 |
20,760,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Zswim8
|
UTSW |
14 |
20,761,598 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1780:Zswim8
|
UTSW |
14 |
20,766,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1850:Zswim8
|
UTSW |
14 |
20,760,815 (GRCm39) |
nonsense |
probably null |
|
|
R2421:Zswim8
|
UTSW |
14 |
20,769,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Zswim8
|
UTSW |
14 |
20,761,157 (GRCm39) |
nonsense |
probably null |
|
|
R3965:Zswim8
|
UTSW |
14 |
20,763,141 (GRCm39) |
missense |
probably benign |
|
|
R4301:Zswim8
|
UTSW |
14 |
20,763,977 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4499:Zswim8
|
UTSW |
14 |
20,764,365 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4633:Zswim8
|
UTSW |
14 |
20,768,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4675:Zswim8
|
UTSW |
14 |
20,764,681 (GRCm39) |
missense |
probably benign |
|
|
R4958:Zswim8
|
UTSW |
14 |
20,763,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5255:Zswim8
|
UTSW |
14 |
20,771,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5288:Zswim8
|
UTSW |
14 |
20,768,939 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5495:Zswim8
|
UTSW |
14 |
20,772,354 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5652:Zswim8
|
UTSW |
14 |
20,763,495 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6273:Zswim8
|
UTSW |
14 |
20,763,521 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6281:Zswim8
|
UTSW |
14 |
20,764,708 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6364:Zswim8
|
UTSW |
14 |
20,763,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6426:Zswim8
|
UTSW |
14 |
20,768,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6576:Zswim8
|
UTSW |
14 |
20,771,942 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6798:Zswim8
|
UTSW |
14 |
20,766,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7059:Zswim8
|
UTSW |
14 |
20,764,641 (GRCm39) |
splice site |
probably null |
|
|
R7243:Zswim8
|
UTSW |
14 |
20,764,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Zswim8
|
UTSW |
14 |
20,770,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Zswim8
|
UTSW |
14 |
20,771,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7567:Zswim8
|
UTSW |
14 |
20,770,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7635:Zswim8
|
UTSW |
14 |
20,766,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7771:Zswim8
|
UTSW |
14 |
20,763,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7874:Zswim8
|
UTSW |
14 |
20,773,217 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7994:Zswim8
|
UTSW |
14 |
20,758,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8466:Zswim8
|
UTSW |
14 |
20,760,744 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9019:Zswim8
|
UTSW |
14 |
20,761,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Zswim8
|
UTSW |
14 |
20,761,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9192:Zswim8
|
UTSW |
14 |
20,769,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Zswim8
|
UTSW |
14 |
20,766,393 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9268:Zswim8
|
UTSW |
14 |
20,761,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Zswim8
|
UTSW |
14 |
20,762,150 (GRCm39) |
nonsense |
probably null |
|
|
R9589:Zswim8
|
UTSW |
14 |
20,763,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9621:Zswim8
|
UTSW |
14 |
20,772,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Zswim8
|
UTSW |
14 |
20,760,700 (GRCm39) |
splice site |
probably null |
|
|
X0028:Zswim8
|
UTSW |
14 |
20,764,725 (GRCm39) |
missense |
probably benign |
0.19 |
|
X0058:Zswim8
|
UTSW |
14 |
20,763,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Zswim8
|
UTSW |
14 |
20,763,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCCAGTGCTTTAGGAATATTGTG -3'
(R):5'- GTCAGAGTGTTGGTAGCCAC -3'
Sequencing Primer
(F):5'- CAGTGCTTTAGGAATATTGTGCTATG -3'
(R):5'- TCTGACGGCTTGTGGACAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation