Incidental Mutation 'R5417:Nr5a1'
ID |
427775 |
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 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5417 (G1)
|
Quality Score |
202 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
38582668-38604554 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 38598098 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 233
(Q233L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108504
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028084]
[ENSMUST00000112883]
|
AlphaFold |
P33242 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028084
AA Change: Q233L
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000028084 Gene: ENSMUSG00000026751 AA Change: Q233L
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 |
possibly damaging
Transcript: ENSMUST00000112883
AA Change: Q233L
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108504 Gene: ENSMUSG00000026751 AA Change: Q233L
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap39 |
A |
G |
15: 76,619,301 (GRCm39) |
V761A |
possibly damaging |
Het |
Ccdc47 |
C |
T |
11: 106,101,176 (GRCm39) |
R162Q |
probably benign |
Het |
Cfap65 |
T |
C |
1: 74,964,259 (GRCm39) |
E563G |
probably damaging |
Het |
Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
Col17a1 |
C |
A |
19: 47,650,829 (GRCm39) |
G732C |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,233,579 (GRCm39) |
I812V |
probably null |
Het |
Dennd1c |
CCGCCCCTCGCTGACAGC |
CC |
17: 57,373,755 (GRCm39) |
|
probably null |
Het |
Dgkg |
A |
T |
16: 22,407,081 (GRCm39) |
M168K |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dolpp1 |
T |
C |
2: 30,286,249 (GRCm39) |
L18P |
probably damaging |
Het |
Eif3e |
A |
T |
15: 43,128,917 (GRCm39) |
D234E |
probably benign |
Het |
Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
Fbxw10 |
G |
A |
11: 62,767,990 (GRCm39) |
R942Q |
possibly damaging |
Het |
Flvcr2 |
T |
G |
12: 85,793,965 (GRCm39) |
F114V |
probably damaging |
Het |
Gm14443 |
A |
T |
2: 175,011,796 (GRCm39) |
C217S |
probably damaging |
Het |
Gphb5 |
A |
T |
12: 75,459,746 (GRCm39) |
V83E |
possibly damaging |
Het |
Gpsm1 |
T |
C |
2: 26,214,045 (GRCm39) |
|
probably null |
Het |
Grik4 |
A |
G |
9: 42,582,544 (GRCm39) |
F134S |
probably benign |
Het |
Ibsp |
G |
A |
5: 104,458,335 (GRCm39) |
E291K |
possibly damaging |
Het |
Igfals |
T |
G |
17: 25,099,290 (GRCm39) |
L127R |
probably damaging |
Het |
Igsf9b |
CGGCCCCGGCCCAG |
CGGCCCCGGCCCAGGCCCCGGCCCAG |
9: 27,245,572 (GRCm39) |
|
probably benign |
Het |
Iqcf3 |
T |
A |
9: 106,431,413 (GRCm39) |
D63V |
probably damaging |
Het |
Klc4 |
A |
G |
17: 46,942,957 (GRCm39) |
|
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Mapk8ip2 |
C |
A |
15: 89,341,642 (GRCm39) |
D284E |
probably benign |
Het |
Muc5b |
A |
T |
7: 141,411,781 (GRCm39) |
T1576S |
unknown |
Het |
Nlrp3 |
G |
A |
11: 59,439,889 (GRCm39) |
G489S |
probably damaging |
Het |
Nusap1 |
G |
A |
2: 119,477,624 (GRCm39) |
V345I |
probably damaging |
Het |
Or10q1 |
A |
G |
19: 13,727,217 (GRCm39) |
H249R |
probably benign |
Het |
Or4k51 |
A |
G |
2: 111,585,265 (GRCm39) |
T224A |
possibly damaging |
Het |
Or51aa2 |
A |
T |
7: 103,187,970 (GRCm39) |
V157E |
possibly damaging |
Het |
Oxr1 |
A |
G |
15: 41,683,767 (GRCm39) |
T378A |
probably benign |
Het |
Pcdhb12 |
T |
C |
18: 37,569,087 (GRCm39) |
F78L |
probably benign |
Het |
Pgm2l1 |
A |
T |
7: 99,921,583 (GRCm39) |
I605L |
probably benign |
Het |
Pik3c2g |
A |
G |
6: 139,682,669 (GRCm39) |
I17V |
probably benign |
Het |
Prss39 |
A |
G |
1: 34,539,209 (GRCm39) |
S150G |
probably benign |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Scg3 |
T |
A |
9: 75,576,538 (GRCm39) |
Y279F |
probably benign |
Het |
Skic2 |
C |
T |
17: 35,065,574 (GRCm39) |
V327I |
probably damaging |
Het |
Srfbp1 |
T |
C |
18: 52,621,697 (GRCm39) |
C253R |
probably benign |
Het |
Tcirg1 |
C |
T |
19: 3,953,509 (GRCm39) |
|
probably null |
Het |
Trim37 |
A |
G |
11: 87,057,505 (GRCm39) |
Y313C |
probably damaging |
Het |
Ttll9 |
A |
T |
2: 152,844,912 (GRCm39) |
M427L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,475,409 (GRCm39) |
R932G |
possibly 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 |
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 |
|
R6443:Nr5a1
|
UTSW |
2 |
38,600,442 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- TTAGTAGCTAGAGCCAGGGAC -3'
(R):5'- ATCTCTACCCATGGCTGTGC -3'
Sequencing Primer
(F):5'- GGTACCCACCTCCAGCTC -3'
(R):5'- CTGTGCCTGGTCCCCAC -3'
|
Posted On |
2016-09-01 |