Incidental Mutation 'R9635:Zswim4'
| ID |
725758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim4
|
| Ensembl Gene |
ENSMUSG00000035671 |
| Gene Name |
zinc finger SWIM-type containing 4 |
| Synonyms |
E130119J17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R9635 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
84937571-84963671 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84939354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 843
(T843A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039480]
|
| AlphaFold |
Q8C7B8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039480
AA Change: T843A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040078
Gene: ENSMUSG00000035671
AA Change: T843A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
531 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
917 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
T |
5: 4,100,545 (GRCm39) |
T2736S |
probably benign |
Het |
| AW209491 |
T |
C |
13: 14,811,957 (GRCm39) |
V270A |
probably benign |
Het |
| Best3 |
A |
T |
10: 116,838,450 (GRCm39) |
K169N |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,883,816 (GRCm39) |
K101R |
probably damaging |
Het |
| Cfhr4 |
C |
T |
1: 139,701,764 (GRCm39) |
V117I |
probably damaging |
Het |
| Chd5 |
A |
T |
4: 152,461,079 (GRCm39) |
D1223V |
possibly damaging |
Het |
| Commd2 |
T |
C |
3: 57,559,064 (GRCm39) |
D4G |
probably benign |
Het |
| Cox5b-ps |
T |
C |
13: 21,685,294 (GRCm39) |
T99A |
probably benign |
Het |
| Cyp3a41a |
A |
T |
5: 145,652,320 (GRCm39) |
F60I |
possibly damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dnmbp |
C |
A |
19: 43,855,974 (GRCm39) |
A261S |
probably benign |
Het |
| Fcgbp |
A |
C |
7: 27,800,832 (GRCm39) |
T1293P |
probably benign |
Het |
| Gal3st2b |
A |
C |
1: 93,868,777 (GRCm39) |
N336T |
probably benign |
Het |
| Gm10309 |
T |
C |
17: 86,806,494 (GRCm39) |
T7A |
unknown |
Het |
| Gm10322 |
A |
T |
10: 59,451,931 (GRCm39) |
H16L |
possibly damaging |
Het |
| Gpr17 |
A |
G |
18: 32,080,199 (GRCm39) |
L288P |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,235,899 (GRCm39) |
I142M |
|
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,696,527 (GRCm39) |
D2438E |
probably benign |
Het |
| Map3k20 |
G |
A |
2: 72,232,403 (GRCm39) |
S353N |
possibly damaging |
Het |
| Moxd2 |
T |
A |
6: 40,863,000 (GRCm39) |
D102V |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,972,686 (GRCm39) |
E2120G |
possibly damaging |
Het |
| Or4f4-ps1 |
T |
A |
2: 111,330,267 (GRCm39) |
C223* |
probably null |
Het |
| Or5p79 |
A |
G |
7: 108,221,654 (GRCm39) |
I212V |
probably benign |
Het |
| Or6c5c |
T |
C |
10: 129,299,463 (GRCm39) |
V306A |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,510 (GRCm39) |
T297S |
probably benign |
Het |
| Pdcd2l |
A |
C |
7: 33,892,356 (GRCm39) |
L171R |
possibly damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,138,113 (GRCm39) |
S154P |
probably benign |
Het |
| Prc1 |
T |
G |
7: 79,962,047 (GRCm39) |
M515R |
probably benign |
Het |
| Rbm34 |
A |
G |
8: 127,696,872 (GRCm39) |
S77P |
probably damaging |
Het |
| Samsn1 |
T |
G |
16: 75,673,457 (GRCm39) |
T140P |
probably damaging |
Het |
| Slc34a1 |
G |
A |
13: 55,556,940 (GRCm39) |
V379M |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,686,651 (GRCm39) |
R2298* |
probably null |
Het |
| Trim10 |
G |
A |
17: 37,187,890 (GRCm39) |
V369M |
probably damaging |
Het |
| Trpv6 |
T |
C |
6: 41,599,901 (GRCm39) |
N585S |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,586,617 (GRCm39) |
D21765N |
possibly damaging |
Het |
| Ubxn6 |
A |
G |
17: 56,376,189 (GRCm39) |
L349P |
probably damaging |
Het |
| Vdac3 |
A |
T |
8: 23,077,575 (GRCm39) |
S37R |
probably damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,993,720 (GRCm39) |
L275F |
probably benign |
Het |
| Wdr17 |
A |
T |
8: 55,101,375 (GRCm39) |
I964N |
probably damaging |
Het |
| Zdhhc22 |
A |
G |
12: 87,030,396 (GRCm39) |
F184S |
possibly damaging |
Het |
| Zfp512 |
A |
G |
5: 31,623,669 (GRCm39) |
H124R |
probably benign |
Het |
|
| Other mutations in Zswim4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Zswim4
|
APN |
8 |
84,938,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03048:Zswim4
|
UTSW |
8 |
84,938,604 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0217:Zswim4
|
UTSW |
8 |
84,939,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0688:Zswim4
|
UTSW |
8 |
84,955,517 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1217:Zswim4
|
UTSW |
8 |
84,946,601 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1853:Zswim4
|
UTSW |
8 |
84,950,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Zswim4
|
UTSW |
8 |
84,939,405 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2205:Zswim4
|
UTSW |
8 |
84,952,498 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2940:Zswim4
|
UTSW |
8 |
84,950,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3747:Zswim4
|
UTSW |
8 |
84,938,676 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3748:Zswim4
|
UTSW |
8 |
84,938,676 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3750:Zswim4
|
UTSW |
8 |
84,938,676 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4777:Zswim4
|
UTSW |
8 |
84,963,586 (GRCm39) |
missense |
probably benign |
|
|
R4831:Zswim4
|
UTSW |
8 |
84,938,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4959:Zswim4
|
UTSW |
8 |
84,938,852 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4968:Zswim4
|
UTSW |
8 |
84,944,001 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4973:Zswim4
|
UTSW |
8 |
84,938,852 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4977:Zswim4
|
UTSW |
8 |
84,953,296 (GRCm39) |
splice site |
probably null |
|
|
R4978:Zswim4
|
UTSW |
8 |
84,953,296 (GRCm39) |
splice site |
probably null |
|
|
R4980:Zswim4
|
UTSW |
8 |
84,953,296 (GRCm39) |
splice site |
probably null |
|
|
R4981:Zswim4
|
UTSW |
8 |
84,953,296 (GRCm39) |
splice site |
probably null |
|
|
R4982:Zswim4
|
UTSW |
8 |
84,953,296 (GRCm39) |
splice site |
probably null |
|
|
R4983:Zswim4
|
UTSW |
8 |
84,953,296 (GRCm39) |
splice site |
probably null |
|
|
R5248:Zswim4
|
UTSW |
8 |
84,946,561 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5337:Zswim4
|
UTSW |
8 |
84,961,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5366:Zswim4
|
UTSW |
8 |
84,939,419 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5646:Zswim4
|
UTSW |
8 |
84,957,739 (GRCm39) |
splice site |
probably null |
|
|
R5845:Zswim4
|
UTSW |
8 |
84,943,871 (GRCm39) |
splice site |
probably null |
|
|
R6193:Zswim4
|
UTSW |
8 |
84,952,774 (GRCm39) |
missense |
probably benign |
|
|
R6270:Zswim4
|
UTSW |
8 |
84,957,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6648:Zswim4
|
UTSW |
8 |
84,957,543 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6920:Zswim4
|
UTSW |
8 |
84,940,714 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7117:Zswim4
|
UTSW |
8 |
84,940,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Zswim4
|
UTSW |
8 |
84,946,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Zswim4
|
UTSW |
8 |
84,950,327 (GRCm39) |
nonsense |
probably null |
|
|
R7354:Zswim4
|
UTSW |
8 |
84,955,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8036:Zswim4
|
UTSW |
8 |
84,949,918 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8408:Zswim4
|
UTSW |
8 |
84,939,014 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8518:Zswim4
|
UTSW |
8 |
84,938,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Zswim4
|
UTSW |
8 |
84,939,313 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8830:Zswim4
|
UTSW |
8 |
84,949,945 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8838:Zswim4
|
UTSW |
8 |
84,940,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8840:Zswim4
|
UTSW |
8 |
84,940,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8842:Zswim4
|
UTSW |
8 |
84,940,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9185:Zswim4
|
UTSW |
8 |
84,963,633 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R9355:Zswim4
|
UTSW |
8 |
84,955,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9432:Zswim4
|
UTSW |
8 |
84,963,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATACCGTGCAACCGTGAAG -3'
(R):5'- AGGATTCAGAGCCAATGGTTG -3'
Sequencing Primer
(F):5'- ACAATCTGGTAGGCAGCCTC -3'
(R):5'- ATTCAGAGCCAATGGTTGTAGGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation