Incidental Mutation 'R5845:Zswim4'
| ID |
501962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zswim4
|
| Ensembl Gene |
ENSMUSG00000035671 |
| Gene Name |
zinc finger SWIM-type containing 4 |
| Synonyms |
E130119J17Rik |
| MMRRC Submission |
044063-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R5845 (G1)
|
| Quality Score |
35 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
84937571-84963671 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 84943871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039480]
|
| AlphaFold |
Q8C7B8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039480
|
| SMART Domains |
Protein: ENSMUSP00000040078
Gene: ENSMUSG00000035671
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.3%
|
| Validation Efficiency |
97% (59/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
T |
5: 121,764,146 (GRCm39) |
Y928N |
probably benign |
Het |
| Amz2 |
T |
C |
11: 109,324,755 (GRCm39) |
F213S |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,199,682 (GRCm39) |
S732C |
probably damaging |
Het |
| Ccnf |
C |
A |
17: 24,459,767 (GRCm39) |
D229Y |
possibly damaging |
Het |
| Cdon |
G |
T |
9: 35,368,762 (GRCm39) |
C332F |
probably damaging |
Het |
| Clca3b |
G |
A |
3: 144,531,077 (GRCm39) |
R758C |
possibly damaging |
Het |
| Cyp2ab1 |
C |
T |
16: 20,131,082 (GRCm39) |
R349H |
probably benign |
Het |
| Dock10 |
C |
T |
1: 80,483,459 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,078,550 (GRCm39) |
Y225N |
possibly damaging |
Het |
| Ear2 |
G |
A |
14: 44,340,618 (GRCm39) |
R92K |
probably benign |
Het |
| Eif3c |
T |
C |
7: 126,163,927 (GRCm39) |
S39G |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,916,582 (GRCm39) |
D701G |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 16,288,506 (GRCm39) |
T339I |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,186,840 (GRCm39) |
D1687G |
possibly damaging |
Het |
| Fcnb |
C |
T |
2: 27,969,633 (GRCm39) |
|
probably null |
Het |
| Flacc1 |
T |
A |
1: 58,706,937 (GRCm39) |
E243D |
possibly damaging |
Het |
| Fscb |
A |
G |
12: 64,519,558 (GRCm39) |
V636A |
unknown |
Het |
| Gm6124 |
A |
G |
7: 38,869,299 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
T |
A |
5: 121,445,587 (GRCm39) |
|
probably null |
Het |
| Hrnr |
A |
T |
3: 93,239,944 (GRCm39) |
H3394L |
unknown |
Het |
| Hs1bp3 |
A |
G |
12: 8,386,275 (GRCm39) |
R226G |
probably benign |
Het |
| Ifngr2 |
T |
C |
16: 91,351,947 (GRCm39) |
V61A |
probably benign |
Het |
| Irag2 |
G |
A |
6: 145,117,392 (GRCm39) |
M376I |
probably benign |
Het |
| Kcnk2 |
T |
C |
1: 189,009,918 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Mgam |
T |
A |
6: 40,652,257 (GRCm39) |
N810K |
possibly damaging |
Het |
| Mis18a |
A |
G |
16: 90,518,522 (GRCm39) |
|
probably null |
Het |
| Nsmce3 |
A |
G |
7: 64,521,936 (GRCm39) |
V244A |
possibly damaging |
Het |
| Or10ag59 |
T |
C |
2: 87,406,367 (GRCm39) |
I313T |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,214,711 (GRCm39) |
V590D |
probably damaging |
Het |
| Prkab1 |
A |
T |
5: 116,162,219 (GRCm39) |
D30E |
probably benign |
Het |
| Rasgrp3 |
A |
T |
17: 75,810,142 (GRCm39) |
N281Y |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,426,757 (GRCm39) |
|
probably null |
Het |
| Slc26a6 |
T |
G |
9: 108,739,282 (GRCm39) |
V609G |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,068,662 (GRCm39) |
M2154K |
probably damaging |
Het |
| Stoml2 |
T |
G |
4: 43,030,008 (GRCm39) |
|
probably benign |
Het |
| Sult6b1 |
A |
C |
17: 79,202,059 (GRCm39) |
S148A |
probably damaging |
Het |
| Tmem131l |
A |
G |
3: 83,847,860 (GRCm39) |
V335A |
probably damaging |
Het |
| Tmem221 |
T |
A |
8: 72,007,788 (GRCm39) |
|
probably null |
Het |
| Tmem88 |
C |
G |
11: 69,288,504 (GRCm39) |
Q138H |
probably benign |
Het |
| Trpm8 |
T |
C |
1: 88,255,902 (GRCm39) |
Y186H |
probably benign |
Het |
| Trpv1 |
T |
C |
11: 73,131,407 (GRCm39) |
I7T |
probably damaging |
Het |
| Ttc34 |
T |
C |
4: 154,949,929 (GRCm39) |
S961P |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,734,486 (GRCm39) |
D1138G |
probably benign |
Het |
| Ubr7 |
C |
T |
12: 102,732,571 (GRCm39) |
R188C |
probably damaging |
Het |
| Uspl1 |
C |
T |
5: 149,130,770 (GRCm39) |
P118S |
probably benign |
Het |
| Vdr |
C |
A |
15: 97,767,647 (GRCm39) |
E114D |
possibly damaging |
Het |
| Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
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 |
|
|
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 |
|
R9635:Zswim4
|
UTSW |
8 |
84,939,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCACACCTGGCATCTGAG -3'
(R):5'- CAGGAGATACCAAGTGGCTG -3'
Sequencing Primer
(F):5'- CCAAGTCTCTATGTAGCCAAGGTTG -3'
(R):5'- ATACCAAGTGGCTGCATGC -3'
|
| Posted On |
2018-01-31 |
Incidental Mutation