Incidental Mutation 'R4384:Sdad1'
| ID |
326103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdad1
|
| Ensembl Gene |
ENSMUSG00000029415 |
| Gene Name |
SDA1 domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
042002-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R4384 (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 92446116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 273
(Q273R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031364
(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: Q273R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000031364
Gene: ENSMUSG00000029415
AA Change: Q273R
| 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: Q272R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000144446
Gene: ENSMUSG00000029415
AA Change: Q272R
| 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: ENSMUST00000202604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202680
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202903
|
| Meta Mutation Damage Score |
0.0603 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
97% (56/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer2 |
T |
A |
4: 86,792,805 (GRCm39) |
V27E |
possibly damaging |
Het |
| Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 14,980,157 (GRCm39) |
C132* |
probably null |
Het |
| Boc |
A |
T |
16: 44,311,545 (GRCm39) |
L726H |
probably damaging |
Het |
| Brip1 |
A |
T |
11: 86,039,255 (GRCm39) |
D426E |
possibly damaging |
Het |
| Cadps2 |
T |
A |
6: 23,412,987 (GRCm39) |
Q654L |
probably benign |
Het |
| Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
| Cntnap3 |
A |
G |
13: 64,896,274 (GRCm39) |
Y1067H |
probably damaging |
Het |
| Csnk1g1 |
T |
C |
9: 65,927,190 (GRCm39) |
V119A |
probably damaging |
Het |
| Ddias |
G |
A |
7: 92,507,431 (GRCm39) |
T828I |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,729,687 (GRCm39) |
Y763C |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,510,416 (GRCm39) |
I948F |
probably damaging |
Het |
| E030018B13Rik |
A |
G |
7: 63,569,141 (GRCm39) |
|
probably benign |
Het |
| E2f8 |
G |
A |
7: 48,516,847 (GRCm39) |
T844I |
possibly damaging |
Het |
| Eps8 |
T |
A |
6: 137,476,590 (GRCm39) |
H603L |
probably benign |
Het |
| Esrrg |
G |
A |
1: 187,775,908 (GRCm39) |
C122Y |
probably damaging |
Het |
| Frmd4a |
C |
T |
2: 4,599,374 (GRCm39) |
R467* |
probably null |
Het |
| Gad2 |
G |
A |
2: 22,575,422 (GRCm39) |
V509I |
probably benign |
Het |
| Gpat4 |
A |
G |
8: 23,664,602 (GRCm39) |
I446T |
probably benign |
Het |
| Klhl12 |
T |
G |
1: 134,415,392 (GRCm39) |
D435E |
probably damaging |
Het |
| Luc7l |
T |
C |
17: 26,498,936 (GRCm39) |
|
probably benign |
Het |
| Marchf2 |
C |
A |
17: 33,915,167 (GRCm39) |
M142I |
probably benign |
Het |
| Marf1 |
T |
A |
16: 13,960,505 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Mdm2 |
T |
C |
10: 117,532,344 (GRCm39) |
D114G |
possibly damaging |
Het |
| Med1 |
G |
A |
11: 98,043,688 (GRCm39) |
|
probably benign |
Het |
| Meikin |
C |
T |
11: 54,308,613 (GRCm39) |
Q404* |
probably null |
Het |
| Myh9 |
A |
T |
15: 77,675,912 (GRCm39) |
|
probably benign |
Het |
| Mylip |
T |
C |
13: 45,543,434 (GRCm39) |
M1T |
probably null |
Het |
| Ncapg2 |
T |
C |
12: 116,403,497 (GRCm39) |
|
probably null |
Het |
| Nmd3 |
T |
C |
3: 69,631,731 (GRCm39) |
|
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,963,914 (GRCm39) |
L1166H |
probably damaging |
Het |
| Or1j13 |
A |
G |
2: 36,370,010 (GRCm39) |
L44P |
probably damaging |
Het |
| Or8b48 |
T |
C |
9: 38,493,349 (GRCm39) |
Y259H |
probably damaging |
Het |
| Rubcn |
A |
G |
16: 32,677,272 (GRCm39) |
I71T |
probably damaging |
Het |
| Rwdd3 |
T |
C |
3: 120,952,406 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,620,119 (GRCm39) |
E3826G |
probably damaging |
Het |
| Sdha |
A |
T |
13: 74,475,104 (GRCm39) |
I579K |
possibly damaging |
Het |
| Sema4d |
A |
G |
13: 51,856,919 (GRCm39) |
L771P |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc6a11 |
A |
G |
6: 114,224,688 (GRCm39) |
E624G |
possibly damaging |
Het |
| Tada3 |
G |
T |
6: 113,347,340 (GRCm39) |
R117S |
probably damaging |
Het |
| Tm9sf3 |
T |
C |
19: 41,236,372 (GRCm39) |
M130V |
probably damaging |
Het |
| Trpc1 |
C |
A |
9: 95,614,161 (GRCm39) |
M34I |
probably benign |
Het |
| Trpc4ap |
A |
G |
2: 155,482,427 (GRCm39) |
V521A |
possibly damaging |
Het |
| Trpm2 |
A |
G |
10: 77,753,559 (GRCm39) |
V1315A |
probably benign |
Het |
| Tvp23a |
A |
G |
16: 10,246,546 (GRCm39) |
S80P |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,600,153 (GRCm39) |
|
probably null |
Het |
| Vmn2r27 |
A |
G |
6: 124,201,115 (GRCm39) |
Y281H |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,632,079 (GRCm39) |
I37N |
unknown |
Het |
| Zfp329 |
G |
A |
7: 12,545,584 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
G |
T |
11: 73,974,005 (GRCm39) |
L91F |
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 |
|
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 |
|
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'- GGAATGCAGACTCTGAAGCC -3'
(R):5'- AACAAGCTCCAGGTTCGGT -3'
Sequencing Primer
(F):5'- TCTGAAGCCACAGCCTGATG -3'
(R):5'- TTCGAAGGTCCGGAGTTCAAATCC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation