Incidental Mutation 'R5957:Cyp21a1'
| ID |
471253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp21a1
|
| Ensembl Gene |
ENSMUSG00000024365 |
| Gene Name |
cytochrome P450, family 21, subfamily a, polypeptide 1 |
| Synonyms |
Cyp21, 21OHA, Oh21-1, 21-OH, 21-hydroxylase, 21OH, Oh21-1 |
| MMRRC Submission |
043246-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R5957 (G1)
|
| Quality Score |
139 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35020322-35023400 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35022150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 206
(I206T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025223
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025223]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025223
AA Change: I206T
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000025223
Gene: ENSMUSG00000024365
AA Change: I206T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:p450
|
29 |
473 |
3.9e-98 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173277
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173970
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.0%
|
| Validation Efficiency |
|
| 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 cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: An 80kb deletion including Cyp21a1 is found in mice with the H2 haplotype aw18. Homozygotes are lethal, but can be rescued with a Cyp21a1 transgene. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,775,922 (GRCm39) |
T1704A |
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,593,790 (GRCm39) |
N142I |
probably damaging |
Het |
| Aldh18a1 |
A |
T |
19: 40,558,981 (GRCm39) |
Y286* |
probably null |
Het |
| Arpp21 |
T |
C |
9: 112,014,754 (GRCm39) |
T17A |
probably benign |
Het |
| Bnip2 |
T |
C |
9: 69,906,520 (GRCm39) |
I147T |
probably damaging |
Het |
| Ccr8 |
T |
C |
9: 119,922,893 (GRCm39) |
Y3H |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
G |
A |
17: 46,968,683 (GRCm39) |
G553S |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,178,272 (GRCm39) |
D488G |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,107,575 (GRCm39) |
L1195P |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,790,558 (GRCm39) |
V185A |
probably benign |
Het |
| Dock5 |
T |
A |
14: 68,095,443 (GRCm39) |
H77L |
probably benign |
Het |
| Fbxw13 |
C |
T |
9: 109,021,734 (GRCm39) |
|
probably null |
Het |
| Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
| Gbf1 |
G |
T |
19: 46,234,660 (GRCm39) |
|
probably null |
Het |
| Gm4846 |
T |
C |
1: 166,314,522 (GRCm39) |
I374V |
probably benign |
Het |
| Gsk3b |
C |
A |
16: 38,014,315 (GRCm39) |
P258T |
probably damaging |
Het |
| Igsf5 |
T |
C |
16: 96,165,249 (GRCm39) |
V8A |
probably benign |
Het |
| Il22 |
T |
A |
10: 118,041,071 (GRCm39) |
L59Q |
probably damaging |
Het |
| Ildr1 |
T |
C |
16: 36,545,896 (GRCm39) |
*517Q |
probably null |
Het |
| Iqca1 |
T |
A |
1: 90,008,670 (GRCm39) |
D450V |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,259,856 (GRCm39) |
D647G |
probably benign |
Het |
| Myh7 |
T |
G |
14: 55,226,535 (GRCm39) |
N408T |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,055,266 (GRCm39) |
M564V |
probably damaging |
Het |
| Nsd2 |
T |
A |
5: 34,012,947 (GRCm39) |
M407K |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,285,706 (GRCm39) |
E219G |
probably benign |
Het |
| Oprd1 |
C |
T |
4: 131,871,474 (GRCm39) |
V75I |
probably benign |
Het |
| Poli |
G |
A |
18: 70,650,511 (GRCm39) |
H310Y |
probably benign |
Het |
| Pramel19 |
T |
C |
4: 101,798,898 (GRCm39) |
F290L |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,672,929 (GRCm39) |
R755H |
probably damaging |
Het |
| Pygl |
A |
T |
12: 70,246,494 (GRCm39) |
M351K |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,831 (GRCm39) |
L341P |
possibly damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,235,168 (GRCm39) |
V555A |
probably benign |
Het |
| Slc8a2 |
C |
A |
7: 15,879,209 (GRCm39) |
T565K |
possibly damaging |
Het |
| Snx14 |
T |
C |
9: 88,285,327 (GRCm39) |
I446V |
possibly damaging |
Het |
| Syde1 |
T |
C |
10: 78,425,951 (GRCm39) |
Y72C |
probably damaging |
Het |
| Trim37 |
C |
T |
11: 87,036,377 (GRCm39) |
R138C |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,464,710 (GRCm39) |
S530R |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,862,253 (GRCm39) |
S2957P |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,133,695 (GRCm39) |
|
probably null |
Het |
| Zyg11b |
T |
C |
4: 108,102,210 (GRCm39) |
K504E |
probably damaging |
Het |
|
| Other mutations in Cyp21a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Cyp21a1
|
APN |
17 |
35,023,108 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01688:Cyp21a1
|
APN |
17 |
35,021,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02352:Cyp21a1
|
APN |
17 |
35,023,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02359:Cyp21a1
|
APN |
17 |
35,023,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02418:Cyp21a1
|
APN |
17 |
35,023,162 (GRCm39) |
splice site |
probably benign |
|
|
IGL03089:Cyp21a1
|
APN |
17 |
35,022,420 (GRCm39) |
splice site |
probably null |
|
|
R0480:Cyp21a1
|
UTSW |
17 |
35,020,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Cyp21a1
|
UTSW |
17 |
35,021,184 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1831:Cyp21a1
|
UTSW |
17 |
35,023,009 (GRCm39) |
splice site |
probably benign |
|
|
R2159:Cyp21a1
|
UTSW |
17 |
35,021,378 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2209:Cyp21a1
|
UTSW |
17 |
35,021,701 (GRCm39) |
nonsense |
probably null |
|
|
R4968:Cyp21a1
|
UTSW |
17 |
35,022,383 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6374:Cyp21a1
|
UTSW |
17 |
35,023,110 (GRCm39) |
splice site |
probably null |
|
|
R7077:Cyp21a1
|
UTSW |
17 |
35,021,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7143:Cyp21a1
|
UTSW |
17 |
35,021,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7798:Cyp21a1
|
UTSW |
17 |
35,023,295 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8192:Cyp21a1
|
UTSW |
17 |
35,022,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8359:Cyp21a1
|
UTSW |
17 |
35,021,105 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8460:Cyp21a1
|
UTSW |
17 |
35,021,844 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8933:Cyp21a1
|
UTSW |
17 |
35,023,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9133:Cyp21a1
|
UTSW |
17 |
35,023,419 (GRCm39) |
start gained |
probably benign |
|
|
R9408:Cyp21a1
|
UTSW |
17 |
35,020,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9561:Cyp21a1
|
UTSW |
17 |
35,021,652 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9583:Cyp21a1
|
UTSW |
17 |
35,022,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTGTGTGTCCAGCAGTGG -3'
(R):5'- AAGGTCCATGTTACCCTCTTGC -3'
Sequencing Primer
(F):5'- AGGCACATCACTGGCTGAG -3'
(R):5'- ATGTTACCCTCTTGCCCACC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation