Incidental Mutation 'R2497:Sdad1'
| ID |
251046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdad1
|
| Ensembl Gene |
ENSMUSG00000029415 |
| Gene Name |
SDA1 domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
040411-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R2497 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92431869-92457883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92447958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 259
(N259S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031364]
[ENSMUST00000201143]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031364
AA Change: N259S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: N259S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUC130_3NT
|
62 |
113 |
3.3e-28 |
PFAM |
|
low complexity region
|
116 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
278 |
N/A |
INTRINSIC |
|
Pfam:SDA1
|
409 |
532 |
2.4e-41 |
PFAM |
|
Pfam:SDA1
|
519 |
685 |
2.8e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201084
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201143
AA Change: N259S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: N259S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUC130_3NT
|
62 |
113 |
5.3e-24 |
PFAM |
|
low complexity region
|
116 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
277 |
N/A |
INTRINSIC |
|
Pfam:SDA1
|
408 |
531 |
3.9e-37 |
PFAM |
|
Pfam:SDA1
|
518 |
684 |
4.6e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202680
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202903
|
| Meta Mutation Damage Score |
0.0643 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
A |
G |
14: 8,251,612 (GRCm38) |
V295A |
probably benign |
Het |
| Agrn |
T |
C |
4: 156,258,268 (GRCm39) |
E959G |
probably benign |
Het |
| Aqp5 |
T |
C |
15: 99,489,180 (GRCm39) |
F10L |
possibly damaging |
Het |
| Arhgap39 |
C |
A |
15: 76,609,585 (GRCm39) |
V1025L |
probably damaging |
Het |
| Atg4d |
C |
T |
9: 21,184,682 (GRCm39) |
R459* |
probably null |
Het |
| Atp11b |
A |
G |
3: 35,909,294 (GRCm39) |
S1163G |
probably damaging |
Het |
| Atp13a5 |
G |
T |
16: 29,157,889 (GRCm39) |
S173* |
probably null |
Het |
| Atp6v1g2 |
T |
A |
17: 35,455,762 (GRCm39) |
I8N |
probably damaging |
Het |
| Ccdc77 |
C |
T |
6: 120,302,433 (GRCm39) |
G430R |
possibly damaging |
Het |
| Cdc34b |
A |
G |
11: 94,633,207 (GRCm39) |
T136A |
probably benign |
Het |
| Cdkal1 |
A |
G |
13: 29,658,524 (GRCm39) |
S23P |
unknown |
Het |
| Cdkl2 |
T |
A |
5: 92,156,857 (GRCm39) |
H566L |
probably benign |
Het |
| Cers6 |
T |
C |
2: 68,901,790 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,421,432 (GRCm39) |
V98A |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,466,140 (GRCm39) |
T557A |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,234,513 (GRCm39) |
T192A |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
G |
11: 117,977,850 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
C |
T |
17: 30,960,339 (GRCm39) |
Q2239* |
probably null |
Het |
| Dscaml1 |
T |
C |
9: 45,656,376 (GRCm39) |
V1572A |
probably benign |
Het |
| Elfn2 |
C |
G |
15: 78,558,464 (GRCm39) |
E28Q |
probably damaging |
Het |
| Enam |
T |
A |
5: 88,650,553 (GRCm39) |
N687K |
probably benign |
Het |
| Flywch1 |
G |
A |
17: 23,974,685 (GRCm39) |
R652W |
probably benign |
Het |
| Gm5612 |
T |
C |
9: 18,338,975 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
C |
T |
8: 26,435,280 (GRCm39) |
W618* |
probably null |
Het |
| Mmp3 |
A |
G |
9: 7,450,131 (GRCm39) |
T288A |
probably benign |
Het |
| Mtmr4 |
T |
A |
11: 87,491,649 (GRCm39) |
F168L |
probably damaging |
Het |
| Mtres1 |
T |
C |
10: 43,401,263 (GRCm39) |
|
probably benign |
Het |
| Myo1d |
T |
A |
11: 80,565,647 (GRCm39) |
N393Y |
probably damaging |
Het |
| Nacc2 |
A |
T |
2: 25,979,580 (GRCm39) |
Y285* |
probably null |
Het |
| Nf1 |
G |
T |
11: 79,334,710 (GRCm39) |
G844V |
probably damaging |
Het |
| Nox4 |
T |
A |
7: 86,945,084 (GRCm39) |
Y113* |
probably null |
Het |
| Pcdha3 |
T |
C |
18: 37,080,556 (GRCm39) |
C433R |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,142,142 (GRCm39) |
I358V |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,211,700 (GRCm39) |
D819V |
possibly damaging |
Het |
| Phf3 |
C |
A |
1: 30,869,095 (GRCm39) |
R651L |
probably damaging |
Het |
| Prrx1 |
A |
G |
1: 163,075,834 (GRCm39) |
V244A |
possibly damaging |
Het |
| Ptges |
C |
T |
2: 30,782,722 (GRCm39) |
G110D |
possibly damaging |
Het |
| Rab27a |
T |
C |
9: 72,992,263 (GRCm39) |
L97P |
probably damaging |
Het |
| Rnf20 |
G |
A |
4: 49,652,676 (GRCm39) |
|
probably null |
Het |
| Serpinb9d |
T |
C |
13: 33,380,500 (GRCm39) |
S129P |
probably damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,282,620 (GRCm39) |
|
probably benign |
Het |
| Smyd2 |
T |
A |
1: 189,617,534 (GRCm39) |
N300I |
possibly damaging |
Het |
| Snd1 |
A |
G |
6: 28,888,078 (GRCm39) |
I875V |
probably benign |
Het |
| Ssh1 |
T |
C |
5: 114,096,919 (GRCm39) |
N174S |
probably damaging |
Het |
| Stimate |
C |
T |
14: 30,594,537 (GRCm39) |
L217F |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,564,319 (GRCm39) |
|
probably null |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tpcn1 |
C |
T |
5: 120,677,063 (GRCm39) |
|
probably null |
Het |
| Unc45b |
A |
T |
11: 82,827,269 (GRCm39) |
I699F |
probably damaging |
Het |
| Uspl1 |
C |
T |
5: 149,124,664 (GRCm39) |
P27L |
probably damaging |
Het |
| Ylpm1 |
C |
G |
12: 85,043,535 (GRCm39) |
P91R |
probably damaging |
Het |
| Zdhhc23 |
G |
A |
16: 43,794,278 (GRCm39) |
T132M |
probably damaging |
Het |
| Zfp148 |
T |
C |
16: 33,316,755 (GRCm39) |
Y434H |
probably damaging |
Het |
| Zhx2 |
T |
C |
15: 57,686,551 (GRCm39) |
V640A |
possibly damaging |
Het |
|
| Other mutations in Sdad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00786:Sdad1
|
APN |
5 |
92,451,632 (GRCm39) |
splice site |
probably null |
|
|
IGL01355:Sdad1
|
APN |
5 |
92,450,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01635:Sdad1
|
APN |
5 |
92,445,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02166:Sdad1
|
APN |
5 |
92,439,621 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02503:Sdad1
|
APN |
5 |
92,449,661 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02739:Sdad1
|
APN |
5 |
92,437,931 (GRCm39) |
missense |
probably benign |
0.43 |
|
PIT4468001:Sdad1
|
UTSW |
5 |
92,439,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0583:Sdad1
|
UTSW |
5 |
92,452,923 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1169:Sdad1
|
UTSW |
5 |
92,446,092 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1496:Sdad1
|
UTSW |
5 |
92,457,682 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1844:Sdad1
|
UTSW |
5 |
92,453,155 (GRCm39) |
nonsense |
probably null |
|
|
R1848:Sdad1
|
UTSW |
5 |
92,440,510 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2419:Sdad1
|
UTSW |
5 |
92,453,677 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2509:Sdad1
|
UTSW |
5 |
92,453,684 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4043:Sdad1
|
UTSW |
5 |
92,450,553 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4384:Sdad1
|
UTSW |
5 |
92,446,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4477:Sdad1
|
UTSW |
5 |
92,445,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4478:Sdad1
|
UTSW |
5 |
92,445,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4734:Sdad1
|
UTSW |
5 |
92,452,836 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4749:Sdad1
|
UTSW |
5 |
92,452,836 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5135:Sdad1
|
UTSW |
5 |
92,451,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5288:Sdad1
|
UTSW |
5 |
92,434,684 (GRCm39) |
makesense |
probably null |
|
|
R6331:Sdad1
|
UTSW |
5 |
92,451,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Sdad1
|
UTSW |
5 |
92,446,049 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7099:Sdad1
|
UTSW |
5 |
92,441,832 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7420:Sdad1
|
UTSW |
5 |
92,453,596 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7425:Sdad1
|
UTSW |
5 |
92,447,980 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7714:Sdad1
|
UTSW |
5 |
92,450,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8048:Sdad1
|
UTSW |
5 |
92,447,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8198:Sdad1
|
UTSW |
5 |
92,439,811 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8347:Sdad1
|
UTSW |
5 |
92,446,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8693:Sdad1
|
UTSW |
5 |
92,452,857 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8696:Sdad1
|
UTSW |
5 |
92,437,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Sdad1
|
UTSW |
5 |
92,437,784 (GRCm39) |
missense |
probably benign |
|
|
R9004:Sdad1
|
UTSW |
5 |
92,439,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9166:Sdad1
|
UTSW |
5 |
92,446,080 (GRCm39) |
nonsense |
probably null |
|
|
R9732:Sdad1
|
UTSW |
5 |
92,438,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTGTCATAGCTGAACGTAGC -3'
(R):5'- TGCTGACATGGAAGCCAAAG -3'
Sequencing Primer
(F):5'- GTCATAGCTGAACGTAGCCTATTCAC -3'
(R):5'- CATGGAAGCCAAAGTAAATAAATGTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation