Incidental Mutation 'R0583:Sdad1'
| ID |
56501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdad1
|
| Ensembl Gene |
ENSMUSG00000029415 |
| Gene Name |
SDA1 domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
038773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R0583 (G1)
|
| Quality Score |
192 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
92431869-92457883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92452923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 105
(I105T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031364]
[ENSMUST00000201143]
[ENSMUST00000202870]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031364
AA Change: I105T
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: I105T
| 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 damaging
Transcript: ENSMUST00000201143
AA Change: I105T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: I105T
| 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 |
probably benign
Transcript: ENSMUST00000202870
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.1%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
G |
9: 57,164,926 (GRCm39) |
S483P |
probably benign |
Het |
| 5730480H06Rik |
A |
G |
5: 48,537,470 (GRCm39) |
H169R |
probably damaging |
Het |
| Actn1 |
T |
A |
12: 80,245,803 (GRCm39) |
I127F |
probably damaging |
Het |
| Cadm3 |
T |
G |
1: 173,168,738 (GRCm39) |
T277P |
probably benign |
Het |
| Cast |
T |
C |
13: 74,861,797 (GRCm39) |
T629A |
probably damaging |
Het |
| Cblc |
C |
A |
7: 19,526,486 (GRCm39) |
C201F |
probably benign |
Het |
| Ccdc154 |
T |
A |
17: 25,387,398 (GRCm39) |
D375E |
possibly damaging |
Het |
| Cdk6 |
A |
G |
5: 3,523,183 (GRCm39) |
D201G |
probably damaging |
Het |
| Cep95 |
T |
C |
11: 106,705,449 (GRCm39) |
V478A |
probably benign |
Het |
| Ciita |
T |
C |
16: 10,341,668 (GRCm39) |
|
probably null |
Het |
| Clec4e |
A |
G |
6: 123,260,653 (GRCm39) |
F135S |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,753,275 (GRCm39) |
D337G |
possibly damaging |
Het |
| Crlf3 |
A |
T |
11: 79,950,107 (GRCm39) |
H174Q |
probably damaging |
Het |
| Cyb5r1 |
T |
A |
1: 134,335,339 (GRCm39) |
F93I |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,552,374 (GRCm39) |
I271T |
probably benign |
Het |
| Duxf1 |
G |
A |
10: 58,059,210 (GRCm39) |
L515F |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
| Fhad1 |
C |
T |
4: 141,631,301 (GRCm39) |
M1297I |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,029,095 (GRCm39) |
V244A |
possibly damaging |
Het |
| Ikzf5 |
A |
G |
7: 130,993,514 (GRCm39) |
|
probably null |
Het |
| Ilvbl |
T |
A |
10: 78,419,101 (GRCm39) |
V450E |
probably damaging |
Het |
| Kcns3 |
T |
G |
12: 11,141,479 (GRCm39) |
N407H |
probably damaging |
Het |
| Klhl11 |
T |
C |
11: 100,355,150 (GRCm39) |
K224E |
possibly damaging |
Het |
| Klra17 |
T |
A |
6: 129,845,656 (GRCm39) |
D186V |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,389,263 (GRCm39) |
D2054G |
probably benign |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Mrgbp |
A |
G |
2: 180,226,239 (GRCm39) |
N104S |
probably benign |
Het |
| Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
C |
A |
7: 141,361,345 (GRCm39) |
T1552N |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,410,435 (GRCm39) |
Y1269* |
probably null |
Het |
| Myef2 |
T |
C |
2: 124,939,901 (GRCm39) |
|
probably null |
Het |
| Myg1 |
C |
T |
15: 102,246,225 (GRCm39) |
Q367* |
probably null |
Het |
| Nalcn |
T |
C |
14: 123,531,755 (GRCm39) |
N1365S |
possibly damaging |
Het |
| Nfu1 |
T |
C |
6: 86,986,934 (GRCm39) |
C18R |
probably benign |
Het |
| Nkx2-6 |
A |
T |
14: 69,412,228 (GRCm39) |
Q132L |
probably damaging |
Het |
| Or10a3b |
C |
T |
7: 108,444,621 (GRCm39) |
A199T |
possibly damaging |
Het |
| Or8k38 |
T |
A |
2: 86,488,704 (GRCm39) |
I33F |
probably benign |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Prh1 |
A |
T |
6: 132,548,796 (GRCm39) |
Q101L |
unknown |
Het |
| Ribc2 |
A |
T |
15: 85,017,115 (GRCm39) |
|
probably null |
Het |
| Rnf19a |
C |
A |
15: 36,253,151 (GRCm39) |
R396L |
probably damaging |
Het |
| Sec24b |
G |
T |
3: 129,834,960 (GRCm39) |
Y79* |
probably null |
Het |
| Tatdn2 |
A |
G |
6: 113,679,486 (GRCm39) |
E277G |
possibly damaging |
Het |
| Tex10 |
A |
C |
4: 48,451,952 (GRCm39) |
F725V |
probably damaging |
Het |
| Themis3 |
T |
C |
17: 66,866,748 (GRCm39) |
D164G |
probably benign |
Het |
| Ubxn7 |
T |
C |
16: 32,194,732 (GRCm39) |
W220R |
probably damaging |
Het |
| Usp33 |
C |
A |
3: 152,073,891 (GRCm39) |
R246S |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,897,043 (GRCm39) |
V130E |
probably benign |
Het |
| Vmn2r112 |
C |
T |
17: 22,837,930 (GRCm39) |
P797L |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Yme1l1 |
T |
C |
2: 23,076,262 (GRCm39) |
V340A |
probably damaging |
Het |
| Zfta |
A |
G |
19: 7,397,639 (GRCm39) |
D62G |
probably 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 |
|
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 |
|
R2497:Sdad1
|
UTSW |
5 |
92,447,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGGCATTCGGCCTATTTCCTGGAC -3'
(R):5'- GAGCATCTCAGTAACTTCCCGCAG -3'
Sequencing Primer
(F):5'- CTGGACTAGGGTCTCTAAGCATAAC -3'
(R):5'- AGCTGAAGGACCTGCTCTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation