Incidental Mutation 'R6443:Nr5a1'
| ID |
519074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr5a1
|
| Ensembl Gene |
ENSMUSG00000026751 |
| Gene Name |
nuclear receptor subfamily 5, group A, member 1 |
| Synonyms |
SF-1, ELP, Ftzf1, SF1, Ad4BP, steroidogenic factor 1, Ftz-F1, adrenal 4-binding protein |
| MMRRC Submission |
044581-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6443 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
38582668-38604554 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38600442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 75
(T75M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028084]
[ENSMUST00000112883]
|
| AlphaFold |
P33242 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028084
AA Change: T75M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028084
Gene: ENSMUSG00000026751
AA Change: T75M
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
10 |
81 |
2.41e-38 |
SMART |
|
low complexity region
|
124 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
238 |
N/A |
INTRINSIC |
|
HOLI
|
268 |
431 |
3.54e-36 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112883
AA Change: T75M
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108504
Gene: ENSMUSG00000026751
AA Change: T75M
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
10 |
81 |
2.41e-38 |
SMART |
|
low complexity region
|
124 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
238 |
N/A |
INTRINSIC |
|
HOLI
|
268 |
431 |
3.54e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149690
|
| Meta Mutation Damage Score |
0.0894 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.9%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit agenesis of the adrenal glands and gonads, defects of the ventromedial hypothalamic nucleus, impaired pituitary gonadotroph function, and neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
G |
9: 4,309,357 (GRCm39) |
L27P |
probably damaging |
Het |
| Actr6 |
T |
C |
10: 89,550,733 (GRCm39) |
N354D |
probably damaging |
Het |
| Apbb1 |
T |
A |
7: 105,222,970 (GRCm39) |
N214Y |
probably damaging |
Het |
| Bcar1 |
A |
T |
8: 112,441,970 (GRCm39) |
V290E |
probably damaging |
Het |
| Ces1f |
T |
A |
8: 94,001,993 (GRCm39) |
Q45L |
probably benign |
Het |
| Ctss |
A |
C |
3: 95,454,114 (GRCm39) |
K221T |
probably benign |
Het |
| Dclre1b |
T |
A |
3: 103,710,504 (GRCm39) |
N469I |
possibly damaging |
Het |
| Dnah12 |
C |
A |
14: 26,600,008 (GRCm39) |
Q3683K |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,990,859 (GRCm39) |
I3301V |
probably benign |
Het |
| Ephb4 |
G |
A |
5: 137,358,711 (GRCm39) |
G298E |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,439,238 (GRCm39) |
F455L |
probably damaging |
Het |
| Fkbp5 |
G |
T |
17: 28,648,253 (GRCm39) |
A112D |
probably damaging |
Het |
| Glud1 |
T |
C |
14: 34,061,884 (GRCm39) |
M468T |
probably benign |
Het |
| Gm5114 |
C |
A |
7: 39,057,141 (GRCm39) |
R826L |
possibly damaging |
Het |
| Gramd2b |
G |
A |
18: 56,618,457 (GRCm39) |
V222I |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,548,663 (GRCm39) |
S576P |
probably benign |
Het |
| Lrrc1 |
A |
G |
9: 77,341,314 (GRCm39) |
F415L |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,437,358 (GRCm39) |
I1032K |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,388,994 (GRCm39) |
V141I |
possibly damaging |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,918 (GRCm39) |
Q134L |
probably benign |
Het |
| Or5ar1 |
T |
G |
2: 85,671,979 (GRCm39) |
D52A |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Pla1a |
T |
C |
16: 38,229,949 (GRCm39) |
|
probably null |
Het |
| Ppp1r36 |
A |
G |
12: 76,464,413 (GRCm39) |
S4G |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Ryr1 |
A |
T |
7: 28,776,503 (GRCm39) |
M2204K |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,506,278 (GRCm39) |
N3428S |
possibly damaging |
Het |
| Slc6a4 |
A |
G |
11: 76,914,027 (GRCm39) |
K526E |
probably benign |
Het |
| Slc9a8 |
G |
A |
2: 167,276,741 (GRCm39) |
R78H |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,089,429 (GRCm39) |
D611G |
possibly damaging |
Het |
| Sstr2 |
G |
A |
11: 113,516,080 (GRCm39) |
|
probably null |
Het |
| Tcf7 |
G |
T |
11: 52,144,765 (GRCm39) |
T286N |
probably benign |
Het |
| Txndc5 |
A |
G |
13: 38,712,179 (GRCm39) |
M69T |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,341,074 (GRCm39) |
V358E |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,374 (GRCm39) |
I745K |
possibly damaging |
Het |
| Zfp354b |
A |
G |
11: 50,813,581 (GRCm39) |
I448T |
possibly damaging |
Het |
| Zfp523 |
A |
T |
17: 28,420,381 (GRCm39) |
T189S |
probably damaging |
Het |
|
| Other mutations in Nr5a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Nr5a1
|
APN |
2 |
38,598,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02869:Nr5a1
|
APN |
2 |
38,598,141 (GRCm39) |
missense |
probably benign |
|
|
IGL03081:Nr5a1
|
APN |
2 |
38,600,544 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0053:Nr5a1
|
UTSW |
2 |
38,584,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1437:Nr5a1
|
UTSW |
2 |
38,600,685 (GRCm39) |
missense |
probably benign |
|
|
R1753:Nr5a1
|
UTSW |
2 |
38,598,431 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1921:Nr5a1
|
UTSW |
2 |
38,584,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3500:Nr5a1
|
UTSW |
2 |
38,597,952 (GRCm39) |
nonsense |
probably null |
|
|
R4393:Nr5a1
|
UTSW |
2 |
38,584,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5417:Nr5a1
|
UTSW |
2 |
38,598,098 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5821:Nr5a1
|
UTSW |
2 |
38,598,511 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5936:Nr5a1
|
UTSW |
2 |
38,591,790 (GRCm39) |
intron |
probably benign |
|
|
R6088:Nr5a1
|
UTSW |
2 |
38,592,007 (GRCm39) |
missense |
probably benign |
|
|
R7099:Nr5a1
|
UTSW |
2 |
38,584,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8125:Nr5a1
|
UTSW |
2 |
38,591,993 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9058:Nr5a1
|
UTSW |
2 |
38,584,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nr5a1
|
UTSW |
2 |
38,600,685 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTAGACTCCCTAATTGCC -3'
(R):5'- GGCATGGACTATTCGTACGACG -3'
Sequencing Primer
(F):5'- AGACTCCCTAATTGCCTCTGC -3'
(R):5'- AAGGTGTCGGGCTACCACTAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation