Incidental Mutation 'R5082:Rai1'
| ID |
387207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rai1
|
| Ensembl Gene |
ENSMUSG00000062115 |
| Gene Name |
retinoic acid induced 1 |
| Synonyms |
Gt1 |
| MMRRC Submission |
042671-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5082 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
59995839-60090023 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 60076745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 270
(E270K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064190]
[ENSMUST00000090806]
[ENSMUST00000102688]
[ENSMUST00000132012]
[ENSMUST00000171108]
|
| AlphaFold |
Q61818 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064190
AA Change: E270K
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070896
Gene: ENSMUSG00000062115
AA Change: E270K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
842 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1064 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1102 |
N/A |
INTRINSIC |
|
low complexity region
|
1262 |
1272 |
N/A |
INTRINSIC |
|
low complexity region
|
1375 |
1388 |
N/A |
INTRINSIC |
|
low complexity region
|
1455 |
1465 |
N/A |
INTRINSIC |
|
low complexity region
|
1499 |
1515 |
N/A |
INTRINSIC |
|
low complexity region
|
1597 |
1609 |
N/A |
INTRINSIC |
|
low complexity region
|
1680 |
1690 |
N/A |
INTRINSIC |
|
low complexity region
|
1714 |
1732 |
N/A |
INTRINSIC |
|
PHD
|
1838 |
1885 |
3.59e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090806
AA Change: E270K
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000088315
Gene: ENSMUSG00000062115
AA Change: E270K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
842 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1064 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1102 |
N/A |
INTRINSIC |
|
low complexity region
|
1262 |
1272 |
N/A |
INTRINSIC |
|
low complexity region
|
1375 |
1388 |
N/A |
INTRINSIC |
|
low complexity region
|
1455 |
1465 |
N/A |
INTRINSIC |
|
low complexity region
|
1499 |
1515 |
N/A |
INTRINSIC |
|
low complexity region
|
1597 |
1609 |
N/A |
INTRINSIC |
|
low complexity region
|
1680 |
1690 |
N/A |
INTRINSIC |
|
low complexity region
|
1714 |
1732 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102688
AA Change: E270K
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099749
Gene: ENSMUSG00000062115
AA Change: E270K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
842 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1064 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1102 |
N/A |
INTRINSIC |
|
low complexity region
|
1262 |
1272 |
N/A |
INTRINSIC |
|
low complexity region
|
1375 |
1388 |
N/A |
INTRINSIC |
|
low complexity region
|
1455 |
1465 |
N/A |
INTRINSIC |
|
low complexity region
|
1499 |
1515 |
N/A |
INTRINSIC |
|
low complexity region
|
1597 |
1609 |
N/A |
INTRINSIC |
|
low complexity region
|
1680 |
1690 |
N/A |
INTRINSIC |
|
low complexity region
|
1714 |
1732 |
N/A |
INTRINSIC |
|
PHD
|
1838 |
1885 |
3.59e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132012
|
| SMART Domains |
Protein: ENSMUSP00000118543
Gene: ENSMUSG00000062115
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149770
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171108
AA Change: E270K
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126183
Gene: ENSMUSG00000062115
AA Change: E270K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
836 |
842 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1064 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1102 |
N/A |
INTRINSIC |
|
low complexity region
|
1262 |
1272 |
N/A |
INTRINSIC |
|
low complexity region
|
1375 |
1388 |
N/A |
INTRINSIC |
|
low complexity region
|
1455 |
1465 |
N/A |
INTRINSIC |
|
low complexity region
|
1499 |
1515 |
N/A |
INTRINSIC |
|
low complexity region
|
1597 |
1609 |
N/A |
INTRINSIC |
|
low complexity region
|
1680 |
1690 |
N/A |
INTRINSIC |
|
low complexity region
|
1714 |
1732 |
N/A |
INTRINSIC |
|
PHD
|
1838 |
1885 |
3.59e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene usually die as embryos. Survivors have shortened life spans and show severe craniofacial and axial skeleton defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,022,694 (GRCm39) |
M1015L |
probably benign |
Het |
| Aftph |
T |
C |
11: 20,677,100 (GRCm39) |
S170G |
probably damaging |
Het |
| Aox4 |
C |
T |
1: 58,270,642 (GRCm39) |
P274S |
possibly damaging |
Het |
| Ash1l |
G |
A |
3: 88,873,541 (GRCm39) |
R108Q |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,406,414 (GRCm39) |
L1767* |
probably null |
Het |
| Baz2b |
T |
A |
2: 59,731,835 (GRCm39) |
K2068* |
probably null |
Het |
| Bcl9 |
A |
T |
3: 97,117,218 (GRCm39) |
V492D |
probably damaging |
Het |
| Bicc1 |
G |
T |
10: 70,776,352 (GRCm39) |
H782Q |
probably benign |
Het |
| Cabin1 |
T |
A |
10: 75,574,164 (GRCm39) |
I640F |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,643,015 (GRCm39) |
V144A |
possibly damaging |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Ddx1 |
G |
T |
12: 13,270,436 (GRCm39) |
C668* |
probably null |
Het |
| Dhx58 |
G |
A |
11: 100,587,802 (GRCm39) |
S585L |
probably benign |
Het |
| Dnttip2 |
A |
T |
3: 122,069,590 (GRCm39) |
K268N |
probably damaging |
Het |
| Ecd |
C |
T |
14: 20,374,436 (GRCm39) |
|
probably null |
Het |
| Entpd1 |
A |
G |
19: 40,713,473 (GRCm39) |
|
probably null |
Het |
| Erlin2 |
T |
C |
8: 27,523,435 (GRCm39) |
V224A |
probably damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,394,424 (GRCm39) |
S515G |
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,169,829 (GRCm39) |
D98G |
possibly damaging |
Het |
| Fhod1 |
T |
A |
8: 106,057,145 (GRCm39) |
D943V |
probably damaging |
Het |
| Gm10322 |
A |
T |
10: 59,452,090 (GRCm39) |
E69V |
possibly damaging |
Het |
| Gm14295 |
T |
A |
2: 176,499,210 (GRCm39) |
L19* |
probably null |
Het |
| Gm7347 |
T |
A |
5: 26,262,372 (GRCm39) |
R50* |
probably null |
Het |
| Hesx1 |
T |
C |
14: 26,722,731 (GRCm39) |
C19R |
probably benign |
Het |
| Hgh1 |
T |
A |
15: 76,253,752 (GRCm39) |
F199L |
probably benign |
Het |
| Irak2 |
T |
C |
6: 113,649,805 (GRCm39) |
F147L |
probably damaging |
Het |
| Kif22 |
G |
A |
7: 126,632,549 (GRCm39) |
R254C |
possibly damaging |
Het |
| Klhl9 |
A |
T |
4: 88,639,622 (GRCm39) |
S206R |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,451,010 (GRCm39) |
|
probably null |
Het |
| Mcm9 |
T |
A |
10: 53,414,156 (GRCm39) |
E308V |
possibly damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,598,201 (GRCm39) |
N369I |
possibly damaging |
Het |
| Mga |
T |
A |
2: 119,733,825 (GRCm39) |
H224Q |
probably damaging |
Het |
| Mtss1 |
A |
T |
15: 58,842,868 (GRCm39) |
W115R |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,088,374 (GRCm39) |
V851A |
probably benign |
Het |
| Nectin2 |
A |
T |
7: 19,472,049 (GRCm39) |
D113E |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 98,007,690 (GRCm39) |
C480Y |
probably damaging |
Het |
| Or6b6 |
G |
A |
7: 106,570,871 (GRCm39) |
R227C |
probably benign |
Het |
| Or8b55 |
T |
C |
9: 38,727,441 (GRCm39) |
I214T |
possibly damaging |
Het |
| Pfdn1 |
G |
T |
18: 36,537,466 (GRCm39) |
N111K |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,832,242 (GRCm39) |
V283E |
probably damaging |
Het |
| Plbd2 |
G |
T |
5: 120,629,249 (GRCm39) |
S305* |
probably null |
Het |
| Prom1 |
T |
C |
5: 44,158,174 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
T |
A |
3: 119,546,613 (GRCm39) |
M90L |
probably benign |
Het |
| Rbbp6 |
G |
A |
7: 122,599,925 (GRCm39) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 22,101,075 (GRCm39) |
M3399V |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Sh2d2a |
A |
G |
3: 87,759,091 (GRCm39) |
D231G |
probably benign |
Het |
| Smn1 |
T |
C |
13: 100,273,890 (GRCm39) |
|
probably benign |
Het |
| Snrnp200 |
C |
T |
2: 127,068,290 (GRCm39) |
Q877* |
probably null |
Het |
| Taf2 |
G |
T |
15: 54,923,441 (GRCm39) |
H279N |
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,881,032 (GRCm39) |
Y345C |
probably damaging |
Het |
| Vmn2r68 |
C |
T |
7: 84,883,076 (GRCm39) |
M225I |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,722,257 (GRCm39) |
W352R |
probably damaging |
Het |
|
| Other mutations in Rai1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Rai1
|
APN |
11 |
60,076,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00952:Rai1
|
APN |
11 |
60,078,818 (GRCm39) |
nonsense |
probably null |
|
|
IGL01118:Rai1
|
APN |
11 |
60,078,264 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02540:Rai1
|
APN |
11 |
60,077,750 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02624:Rai1
|
APN |
11 |
60,079,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02696:Rai1
|
APN |
11 |
60,084,782 (GRCm39) |
missense |
probably benign |
|
|
IGL02940:Rai1
|
APN |
11 |
60,077,844 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02970:Rai1
|
APN |
11 |
60,076,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03006:Rai1
|
APN |
11 |
60,079,031 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0557:Rai1
|
UTSW |
11 |
60,081,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1438:Rai1
|
UTSW |
11 |
60,076,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1712:Rai1
|
UTSW |
11 |
60,078,428 (GRCm39) |
missense |
probably benign |
|
|
R1837:Rai1
|
UTSW |
11 |
60,080,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Rai1
|
UTSW |
11 |
60,076,746 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2024:Rai1
|
UTSW |
11 |
60,076,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2141:Rai1
|
UTSW |
11 |
60,080,293 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2168:Rai1
|
UTSW |
11 |
60,078,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2404:Rai1
|
UTSW |
11 |
60,080,750 (GRCm39) |
missense |
probably benign |
|
|
R4869:Rai1
|
UTSW |
11 |
60,077,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Rai1
|
UTSW |
11 |
60,077,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Rai1
|
UTSW |
11 |
60,079,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5221:Rai1
|
UTSW |
11 |
60,081,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Rai1
|
UTSW |
11 |
60,077,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5587:Rai1
|
UTSW |
11 |
60,080,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5849:Rai1
|
UTSW |
11 |
60,081,347 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5914:Rai1
|
UTSW |
11 |
60,078,630 (GRCm39) |
missense |
probably benign |
|
|
R5950:Rai1
|
UTSW |
11 |
60,078,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6111:Rai1
|
UTSW |
11 |
60,078,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6450:Rai1
|
UTSW |
11 |
60,077,429 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6785:Rai1
|
UTSW |
11 |
60,079,620 (GRCm39) |
missense |
probably benign |
|
|
R6889:Rai1
|
UTSW |
11 |
60,076,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7296:Rai1
|
UTSW |
11 |
60,079,499 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7388:Rai1
|
UTSW |
11 |
60,080,201 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8196:Rai1
|
UTSW |
11 |
60,076,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:Rai1
|
UTSW |
11 |
60,077,393 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9161:Rai1
|
UTSW |
11 |
60,076,682 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9210:Rai1
|
UTSW |
11 |
60,080,217 (GRCm39) |
missense |
probably benign |
|
|
R9570:Rai1
|
UTSW |
11 |
60,076,568 (GRCm39) |
missense |
probably benign |
|
|
R9653:Rai1
|
UTSW |
11 |
60,080,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9718:Rai1
|
UTSW |
11 |
60,080,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9788:Rai1
|
UTSW |
11 |
60,078,080 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
X0018:Rai1
|
UTSW |
11 |
60,077,262 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0019:Rai1
|
UTSW |
11 |
60,080,766 (GRCm39) |
missense |
probably benign |
0.14 |
|
X0024:Rai1
|
UTSW |
11 |
60,078,221 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1186:Rai1
|
UTSW |
11 |
60,078,389 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Rai1
|
UTSW |
11 |
60,078,389 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Rai1
|
UTSW |
11 |
60,078,389 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Rai1
|
UTSW |
11 |
60,078,389 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Rai1
|
UTSW |
11 |
60,078,389 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Rai1
|
UTSW |
11 |
60,078,389 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Rai1
|
UTSW |
11 |
60,078,389 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTATGCCCCAACAGTGCAG -3'
(R):5'- ATTGGGCATCAGTGGTGACG -3'
Sequencing Primer
(F):5'- CCAACAGTGCAGGGTGGTG -3'
(R):5'- GACCCACAGACCGTGCAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation