Incidental Mutation 'R6311:Nr6a1'
| ID |
509758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nr6a1
|
| Ensembl Gene |
ENSMUSG00000063972 |
| Gene Name |
nuclear receptor subfamily 6, group A, member 1 |
| Synonyms |
1700113M01Rik, NCNF, Gcnf |
| MMRRC Submission |
044469-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6311 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
38613381-38816473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38629083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 257
(I257V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076275]
[ENSMUST00000112877]
[ENSMUST00000142113]
[ENSMUST00000142130]
[ENSMUST00000168098]
|
| AlphaFold |
Q64249 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076275
AA Change: I314V
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000075624
Gene: ENSMUSG00000063972
AA Change: I314V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
|
ZnF_C4
|
72 |
143 |
9.35e-36 |
SMART |
|
low complexity region
|
202 |
216 |
N/A |
INTRINSIC |
|
HOLI
|
304 |
466 |
3.19e-29 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112877
AA Change: I314V
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108498
Gene: ENSMUSG00000063972
AA Change: I314V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
|
ZnF_C4
|
72 |
143 |
9.35e-36 |
SMART |
|
low complexity region
|
202 |
216 |
N/A |
INTRINSIC |
|
HOLI
|
304 |
466 |
3.19e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132636
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142113
|
| SMART Domains |
Protein: ENSMUSP00000121234
Gene: ENSMUSG00000063972
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
15 |
86 |
9.35e-36 |
SMART |
|
Blast:HOLI
|
105 |
235 |
6e-67 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142130
|
| SMART Domains |
Protein: ENSMUSP00000115164
Gene: ENSMUSG00000063972
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
|
ZnF_C4
|
57 |
128 |
9.35e-36 |
SMART |
|
low complexity region
|
187 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168098
AA Change: I257V
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126009
Gene: ENSMUSG00000063972
AA Change: I257V
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
15 |
86 |
9.35e-36 |
SMART |
|
low complexity region
|
145 |
159 |
N/A |
INTRINSIC |
|
HOLI
|
247 |
409 |
3.19e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203202
|
| Meta Mutation Damage Score |
0.0696 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygotes for targeted null mutations have cardiovascular abnormalities, defective trunk development, impaired somite formation, failure to turn, open neural tube and hindgut, protrusion of the tailbud outside the yolk sac and die by embryonic day 10.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
G |
13: 68,773,911 (GRCm39) |
I1044T |
probably damaging |
Het |
| Arhgef4 |
T |
G |
1: 34,763,062 (GRCm39) |
F773V |
unknown |
Het |
| B4galnt4 |
A |
G |
7: 140,648,572 (GRCm39) |
N696S |
probably damaging |
Het |
| Cdh16 |
T |
A |
8: 105,341,065 (GRCm39) |
D786V |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 100,127,527 (GRCm39) |
Y28C |
probably damaging |
Het |
| Cgn |
C |
T |
3: 94,685,486 (GRCm39) |
|
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chst10 |
A |
G |
1: 38,907,128 (GRCm39) |
V174A |
probably damaging |
Het |
| Clca4a |
T |
A |
3: 144,672,174 (GRCm39) |
N256I |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,339,836 (GRCm39) |
W698* |
probably null |
Het |
| Ddx24 |
C |
A |
12: 103,390,166 (GRCm39) |
R275L |
probably damaging |
Het |
| Dnmt3b |
G |
T |
2: 153,515,925 (GRCm39) |
G444V |
probably damaging |
Het |
| Ermn |
A |
G |
2: 57,941,771 (GRCm39) |
F109S |
probably damaging |
Het |
| Fam227a |
C |
T |
15: 79,524,895 (GRCm39) |
A190T |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 53,067,804 (GRCm39) |
W556R |
probably damaging |
Het |
| Fut2 |
T |
A |
7: 45,299,804 (GRCm39) |
I323F |
possibly damaging |
Het |
| Grik2 |
T |
G |
10: 49,454,234 (GRCm39) |
K94Q |
probably damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,537,406 (GRCm39) |
R37G |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,648,816 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
A |
T |
10: 103,009,254 (GRCm39) |
D1076E |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,922,765 (GRCm39) |
I590N |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,500,176 (GRCm39) |
L940P |
possibly damaging |
Het |
| Or5b100-ps1 |
T |
A |
19: 12,993,935 (GRCm39) |
M116K |
probably damaging |
Het |
| Or6c216 |
A |
G |
10: 129,678,776 (GRCm39) |
L45P |
possibly damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,316 (GRCm39) |
|
probably null |
Het |
| Pdcl3 |
A |
G |
1: 39,026,925 (GRCm39) |
M1V |
probably null |
Het |
| Pdzd2 |
T |
A |
15: 12,458,274 (GRCm39) |
E196D |
probably damaging |
Het |
| Pgm1 |
T |
C |
4: 99,827,237 (GRCm39) |
F379S |
possibly damaging |
Het |
| Pgm2 |
G |
A |
5: 64,273,758 (GRCm39) |
C581Y |
probably benign |
Het |
| Plbd1 |
T |
A |
6: 136,590,945 (GRCm39) |
H407L |
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,544,321 (GRCm39) |
Y308C |
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,600,255 (GRCm39) |
E893G |
probably null |
Het |
| Slc34a1 |
A |
G |
13: 23,999,005 (GRCm39) |
T133A |
probably benign |
Het |
| Slc9a8 |
T |
A |
2: 167,293,140 (GRCm39) |
S163T |
probably damaging |
Het |
| Sult2a3 |
T |
C |
7: 13,845,482 (GRCm39) |
I126V |
probably benign |
Het |
| Tlr1 |
C |
T |
5: 65,084,188 (GRCm39) |
D130N |
probably damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,361,604 (GRCm39) |
K127* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
|
| Other mutations in Nr6a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01566:Nr6a1
|
APN |
2 |
38,617,901 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02245:Nr6a1
|
APN |
2 |
38,630,565 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03195:Nr6a1
|
APN |
2 |
38,632,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Nr6a1
|
UTSW |
2 |
38,629,032 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0909:Nr6a1
|
UTSW |
2 |
38,775,218 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1737:Nr6a1
|
UTSW |
2 |
38,628,955 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5918:Nr6a1
|
UTSW |
2 |
38,629,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Nr6a1
|
UTSW |
2 |
38,619,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6861:Nr6a1
|
UTSW |
2 |
38,630,597 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6978:Nr6a1
|
UTSW |
2 |
38,762,631 (GRCm39) |
missense |
probably benign |
|
|
R7566:Nr6a1
|
UTSW |
2 |
38,621,085 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8177:Nr6a1
|
UTSW |
2 |
38,619,510 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8441:Nr6a1
|
UTSW |
2 |
38,632,888 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8548:Nr6a1
|
UTSW |
2 |
38,619,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8548:Nr6a1
|
UTSW |
2 |
38,619,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776:Nr6a1
|
UTSW |
2 |
38,650,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776-TAIL:Nr6a1
|
UTSW |
2 |
38,650,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Nr6a1
|
UTSW |
2 |
38,650,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8982:Nr6a1
|
UTSW |
2 |
38,762,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9189:Nr6a1
|
UTSW |
2 |
38,816,129 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9284:Nr6a1
|
UTSW |
2 |
38,638,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9505:Nr6a1
|
UTSW |
2 |
38,630,485 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGCTTAGTCCAGATCGC -3'
(R):5'- TCTGTGGTCAAGGGCAAGAG -3'
Sequencing Primer
(F):5'- CACCTGTGGAGTTCTTCATCAGAG -3'
(R):5'- GGCCTACTACCAAGGAATCCTTCTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation