Incidental Mutation 'R9019:Zswim8'
ID |
686627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zswim8
|
Ensembl Gene |
ENSMUSG00000021819 |
Gene Name |
zinc finger SWIM-type containing 8 |
Synonyms |
2310021P13Rik, 4832404P21Rik |
MMRRC Submission |
068849-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R9019 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
20757620-20773687 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 20761119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 129
(G129D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022358
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022358]
[ENSMUST00000223840]
[ENSMUST00000224129]
[ENSMUST00000224751]
|
AlphaFold |
Q3UHH1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022358
AA Change: G129D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022358 Gene: ENSMUSG00000021819 AA Change: G129D
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 |
probably damaging
Transcript: ENSMUST00000223840
AA Change: G129D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000224129
AA Change: W46*
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224751
AA Change: G129D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.5015 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
A |
11: 110,011,522 (GRCm39) |
T1174S |
|
Het |
Aoc2 |
C |
T |
11: 101,216,262 (GRCm39) |
P115L |
possibly damaging |
Het |
Arhgef19 |
C |
T |
4: 140,973,738 (GRCm39) |
P75L |
probably benign |
Het |
Atad3a |
A |
G |
4: 155,838,052 (GRCm39) |
V240A |
possibly damaging |
Het |
AW551984 |
A |
T |
9: 39,508,973 (GRCm39) |
L317* |
probably null |
Het |
Bdkrb1 |
T |
C |
12: 105,570,700 (GRCm39) |
S89P |
probably damaging |
Het |
Bpifb4 |
T |
A |
2: 153,790,607 (GRCm39) |
L166* |
probably null |
Het |
Ccdc27 |
A |
G |
4: 154,124,014 (GRCm39) |
V173A |
unknown |
Het |
Ccl8 |
T |
C |
11: 82,006,877 (GRCm39) |
V30A |
probably benign |
Het |
Cdc16 |
C |
T |
8: 13,831,501 (GRCm39) |
A578V |
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,959,365 (GRCm39) |
Y423C |
probably damaging |
Het |
Cyp3a44 |
T |
C |
5: 145,727,519 (GRCm39) |
D270G |
probably damaging |
Het |
Ep300 |
A |
G |
15: 81,532,730 (GRCm39) |
E1656G |
unknown |
Het |
Eppk1 |
A |
G |
15: 75,992,472 (GRCm39) |
F1470L |
probably benign |
Het |
Fbxw16 |
T |
A |
9: 109,270,135 (GRCm39) |
D202V |
probably damaging |
Het |
Fndc3a |
G |
A |
14: 72,811,840 (GRCm39) |
T330I |
probably benign |
Het |
Gm36864 |
A |
T |
7: 43,887,028 (GRCm39) |
Q307L |
probably benign |
Het |
Gm37240 |
T |
C |
3: 84,426,946 (GRCm39) |
E38G |
probably damaging |
Het |
Gm6871 |
A |
T |
7: 41,195,262 (GRCm39) |
C492S |
probably damaging |
Het |
Gnaq |
T |
C |
19: 16,355,638 (GRCm39) |
Y285H |
probably benign |
Het |
Htt |
T |
A |
5: 35,023,920 (GRCm39) |
F1723I |
probably damaging |
Het |
Il21r |
G |
A |
7: 125,231,472 (GRCm39) |
S300N |
probably damaging |
Het |
Itm2b |
G |
A |
14: 73,605,856 (GRCm39) |
|
probably benign |
Het |
Kat6a |
T |
C |
8: 23,425,754 (GRCm39) |
S1100P |
probably damaging |
Het |
Kcnj2 |
T |
C |
11: 110,963,415 (GRCm39) |
I269T |
probably damaging |
Het |
Kmt2c |
G |
A |
5: 25,488,208 (GRCm39) |
A4635V |
probably damaging |
Het |
Kng2 |
A |
T |
16: 22,847,546 (GRCm39) |
D38E |
probably damaging |
Het |
Lgr5 |
A |
C |
10: 115,314,454 (GRCm39) |
L161R |
probably damaging |
Het |
Lrig2 |
A |
T |
3: 104,368,914 (GRCm39) |
I923N |
probably benign |
Het |
Mrgprh |
T |
C |
17: 13,096,200 (GRCm39) |
S147P |
probably damaging |
Het |
Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
Nsmaf |
A |
T |
4: 6,418,523 (GRCm39) |
S427R |
probably damaging |
Het |
Or8g53 |
G |
T |
9: 39,684,038 (GRCm39) |
D19E |
probably benign |
Het |
Pdcd11 |
G |
T |
19: 47,101,658 (GRCm39) |
G948C |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,375,612 (GRCm39) |
Y1508H |
probably damaging |
Het |
Prmt5 |
G |
T |
14: 54,753,564 (GRCm39) |
A105E |
probably benign |
Het |
Prr23a3 |
T |
C |
9: 98,747,213 (GRCm39) |
S56P |
probably damaging |
Het |
Slc44a2 |
A |
G |
9: 21,265,077 (GRCm39) |
E705G |
probably damaging |
Het |
Sostdc1 |
A |
T |
12: 36,364,431 (GRCm39) |
N47Y |
probably benign |
Het |
Speg |
T |
C |
1: 75,405,882 (GRCm39) |
Y3029H |
probably damaging |
Het |
Srd5a1 |
G |
A |
13: 69,748,413 (GRCm39) |
R129* |
probably null |
Het |
Srrm4 |
A |
G |
5: 116,605,586 (GRCm39) |
S224P |
unknown |
Het |
Syne2 |
A |
G |
12: 75,999,618 (GRCm39) |
E2337G |
possibly damaging |
Het |
Tmem150c |
C |
A |
5: 100,240,958 (GRCm39) |
V32L |
probably benign |
Het |
Topaz1 |
T |
C |
9: 122,619,192 (GRCm39) |
I1263T |
possibly damaging |
Het |
Ttc39d |
C |
T |
17: 80,523,349 (GRCm39) |
R3W |
probably benign |
Het |
Xylt1 |
T |
C |
7: 117,250,038 (GRCm39) |
|
probably null |
Het |
Zfp933 |
A |
T |
4: 147,911,021 (GRCm39) |
C192S |
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 |
R5341:Zswim8
|
UTSW |
14 |
20,766,122 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CTGTAGTTGGAACTGCTAAGAGG -3'
(R):5'- TAGCTGGCCAAGACCAAAGTC -3'
Sequencing Primer
(F):5'- TTGGAACTGCTAAGAGGAAGATAAG -3'
(R):5'- CCTCCTGAGTGCTAGGATTAAAGAC -3'
|
Posted On |
2021-11-19 |