Incidental Mutation 'R4164:Snx21'
| ID |
321646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx21
|
| Ensembl Gene |
ENSMUSG00000050373 |
| Gene Name |
sorting nexin family member 21 |
| Synonyms |
5730407K14Rik |
| MMRRC Submission |
041638-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4164 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164627743-164635736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164628770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 138
(Y138H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056181]
[ENSMUST00000152471]
[ENSMUST00000172577]
[ENSMUST00000172577]
[ENSMUST00000174070]
|
| AlphaFold |
Q3UR97 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056181
AA Change: Y138H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054137
Gene: ENSMUSG00000050373
AA Change: Y138H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
|
PX
|
124 |
232 |
4.19e-10 |
SMART |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
343 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140519
AA Change: Y19H
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152471
AA Change: Y138H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133914
Gene: ENSMUSG00000050373
AA Change: Y138H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172577
|
| SMART Domains |
Protein: ENSMUSP00000134133
Gene: ENSMUSG00000050373
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172577
|
| SMART Domains |
Protein: ENSMUSP00000134133
Gene: ENSMUSG00000050373
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173945
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174070
AA Change: Y138H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133344
Gene: ENSMUSG00000050373
AA Change: Y138H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
17 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174342
|
| Meta Mutation Damage Score |
0.8842 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
89% (40/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. The specific function of this protein has not been determined. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
C |
T |
11: 69,780,863 (GRCm39) |
A164T |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,889,273 (GRCm39) |
D384G |
probably damaging |
Het |
| Cntn5 |
A |
G |
9: 9,781,681 (GRCm39) |
V666A |
probably damaging |
Het |
| Defb41 |
C |
T |
1: 18,330,821 (GRCm39) |
C42Y |
probably damaging |
Het |
| Dennd4c |
C |
A |
4: 86,725,764 (GRCm39) |
N739K |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,066,575 (GRCm39) |
W2598* |
probably null |
Het |
| Ell |
G |
T |
8: 71,034,223 (GRCm39) |
R30L |
probably damaging |
Het |
| Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
| Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
| Fer1l6 |
A |
C |
15: 58,431,087 (GRCm39) |
R247S |
possibly damaging |
Het |
| Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm2223 |
C |
T |
X: 32,943,247 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi203 |
A |
T |
1: 173,756,029 (GRCm39) |
|
probably benign |
Het |
| Ighm |
T |
A |
12: 113,385,915 (GRCm39) |
E108V |
unknown |
Het |
| Il23r |
T |
A |
6: 67,400,647 (GRCm39) |
Q561L |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,388,436 (GRCm39) |
D703G |
probably benign |
Het |
| Kcnt2 |
A |
T |
1: 140,537,368 (GRCm39) |
Y1109F |
probably damaging |
Het |
| Lamb2 |
T |
A |
9: 108,367,497 (GRCm39) |
Y1760N |
probably damaging |
Het |
| Lrpprc |
T |
C |
17: 85,038,617 (GRCm39) |
E950G |
possibly damaging |
Het |
| Lrrc66 |
T |
A |
5: 73,787,119 (GRCm39) |
|
probably null |
Het |
| Mtbp |
T |
C |
15: 55,472,917 (GRCm39) |
V627A |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nipbl |
T |
C |
15: 8,368,418 (GRCm39) |
N1142S |
probably benign |
Het |
| Nrxn2 |
G |
A |
19: 6,582,173 (GRCm39) |
V660I |
probably damaging |
Het |
| Oas1c |
T |
C |
5: 120,946,204 (GRCm39) |
E98G |
probably damaging |
Het |
| Or8a1b |
T |
G |
9: 37,622,994 (GRCm39) |
I194L |
probably benign |
Het |
| Otx1 |
A |
G |
11: 21,946,638 (GRCm39) |
|
probably benign |
Het |
| Prkcd |
A |
G |
14: 30,323,154 (GRCm39) |
F461L |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,981,098 (GRCm39) |
F85S |
possibly damaging |
Het |
| Rnf214 |
G |
A |
9: 45,783,210 (GRCm39) |
R184W |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,324,844 (GRCm39) |
N1328S |
probably damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,593,803 (GRCm39) |
|
probably benign |
Het |
| Smarcal1 |
A |
G |
1: 72,665,848 (GRCm39) |
|
probably benign |
Het |
| Sox5 |
T |
A |
6: 144,062,206 (GRCm39) |
R149W |
probably damaging |
Het |
| Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,084,545 (GRCm39) |
C11R |
possibly damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,706,697 (GRCm39) |
H509L |
probably benign |
Het |
|
| Other mutations in Snx21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Snx21
|
APN |
2 |
164,628,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02329:Snx21
|
APN |
2 |
164,634,310 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4162:Snx21
|
UTSW |
2 |
164,628,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Snx21
|
UTSW |
2 |
164,628,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5262:Snx21
|
UTSW |
2 |
164,633,741 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6875:Snx21
|
UTSW |
2 |
164,633,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Snx21
|
UTSW |
2 |
164,628,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7757:Snx21
|
UTSW |
2 |
164,628,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8001:Snx21
|
UTSW |
2 |
164,628,657 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8341:Snx21
|
UTSW |
2 |
164,633,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8796:Snx21
|
UTSW |
2 |
164,628,749 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9340:Snx21
|
UTSW |
2 |
164,633,849 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9741:Snx21
|
UTSW |
2 |
164,634,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTTAACTCTGGAGCTAGCC -3'
(R):5'- GTCATTTGCCTGAGGACGTG -3'
Sequencing Primer
(F):5'- ACCCCCATAATGACGGGTC -3'
(R):5'- AGGACGTGTTCAGTTGACACC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation