Incidental Mutation 'R6470:Sardh'
| ID |
516458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sardh
|
| Ensembl Gene |
ENSMUSG00000009614 |
| Gene Name |
sarcosine dehydrogenase |
| Synonyms |
|
| MMRRC Submission |
044603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R6470 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 27134384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 44
(R44Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102886]
[ENSMUST00000129975]
[ENSMUST00000139312]
[ENSMUST00000149733]
|
| AlphaFold |
Q99LB7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102886
AA Change: R44Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: R44Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
69 |
428 |
1.7e-63 |
PFAM |
|
Pfam:FAO_M
|
431 |
486 |
9.2e-22 |
PFAM |
|
Pfam:GCV_T
|
489 |
799 |
3.1e-64 |
PFAM |
|
Pfam:GCV_T_C
|
807 |
904 |
4.7e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129975
AA Change: R44Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139312
AA Change: R44Q
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000119866
Gene: ENSMUSG00000009614
AA Change: R44Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
69 |
197 |
9.3e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149733
AA Change: R44Q
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000120478
Gene: ENSMUSG00000009614
AA Change: R44Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
69 |
203 |
9.7e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.0619 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
G |
T |
8: 88,290,656 (GRCm39) |
V5L |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,963,593 (GRCm39) |
V1804A |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,777,644 (GRCm39) |
D697G |
probably damaging |
Het |
| Carns1 |
T |
C |
19: 4,221,782 (GRCm39) |
T158A |
possibly damaging |
Het |
| Cd300lg |
A |
G |
11: 101,941,331 (GRCm39) |
N244S |
possibly damaging |
Het |
| Ces3b |
A |
T |
8: 105,815,285 (GRCm39) |
Q12L |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,659,426 (GRCm39) |
T129A |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,510,024 (GRCm39) |
|
probably null |
Het |
| Cubn |
G |
T |
2: 13,327,804 (GRCm39) |
R2674S |
possibly damaging |
Het |
| Cyp2b10 |
T |
C |
7: 25,611,081 (GRCm39) |
I146T |
possibly damaging |
Het |
| Cyp4v3 |
C |
T |
8: 45,770,773 (GRCm39) |
W244* |
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,051,569 (GRCm39) |
D3075V |
probably damaging |
Het |
| Dpy19l2 |
A |
T |
9: 24,572,039 (GRCm39) |
I327N |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,334,318 (GRCm39) |
F4849I |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,043,926 (GRCm39) |
I256V |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,760,850 (GRCm39) |
T621A |
probably benign |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Gm9936 |
T |
C |
5: 114,995,482 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,503,680 (GRCm39) |
F312S |
probably damaging |
Het |
| Ifna2 |
T |
C |
4: 88,601,751 (GRCm39) |
N89S |
probably benign |
Het |
| Il17rb |
A |
G |
14: 29,724,866 (GRCm39) |
S207P |
probably benign |
Het |
| Itga9 |
A |
T |
9: 118,726,335 (GRCm39) |
I430F |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Ltk |
A |
T |
2: 119,583,516 (GRCm39) |
|
probably null |
Het |
| Nat8l |
C |
T |
5: 34,155,836 (GRCm39) |
T164M |
probably damaging |
Het |
| Nrf1 |
A |
G |
6: 30,102,199 (GRCm39) |
D166G |
probably damaging |
Het |
| Nxph3 |
A |
G |
11: 95,401,919 (GRCm39) |
I165T |
possibly damaging |
Het |
| Or10a4 |
T |
C |
7: 106,696,951 (GRCm39) |
I93T |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,663,826 (GRCm39) |
D955G |
probably benign |
Het |
| Pianp |
T |
A |
6: 124,976,232 (GRCm39) |
|
probably benign |
Het |
| Plin2 |
G |
T |
4: 86,586,607 (GRCm39) |
Q75K |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,411,717 (GRCm39) |
V414A |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,042,140 (GRCm39) |
|
probably null |
Het |
| Scaf4 |
C |
T |
16: 90,026,526 (GRCm39) |
W1072* |
probably null |
Het |
| Sh3rf3 |
A |
G |
10: 58,819,791 (GRCm39) |
K201E |
probably damaging |
Het |
| Shprh |
G |
T |
10: 11,047,681 (GRCm39) |
A1010S |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,047,019 (GRCm39) |
S260P |
probably damaging |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,659,603 (GRCm39) |
L1099P |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,300,918 (GRCm39) |
D90G |
probably damaging |
Het |
| Syt10 |
T |
C |
15: 89,676,804 (GRCm39) |
D394G |
probably damaging |
Het |
| Tlr3 |
T |
C |
8: 45,850,422 (GRCm39) |
D301G |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,795,804 (GRCm39) |
M916K |
probably benign |
Het |
|
| Other mutations in Sardh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01110:Sardh
|
APN |
2 |
27,105,125 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01686:Sardh
|
APN |
2 |
27,079,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01868:Sardh
|
APN |
2 |
27,117,159 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02167:Sardh
|
APN |
2 |
27,081,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02272:Sardh
|
APN |
2 |
27,115,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02870:Sardh
|
APN |
2 |
27,125,503 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03117:Sardh
|
APN |
2 |
27,129,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Sardh
|
UTSW |
2 |
27,118,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4791001:Sardh
|
UTSW |
2 |
27,087,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0265:Sardh
|
UTSW |
2 |
27,117,078 (GRCm39) |
splice site |
probably benign |
|
|
R0781:Sardh
|
UTSW |
2 |
27,081,931 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1110:Sardh
|
UTSW |
2 |
27,081,931 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1242:Sardh
|
UTSW |
2 |
27,125,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Sardh
|
UTSW |
2 |
27,129,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Sardh
|
UTSW |
2 |
27,129,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Sardh
|
UTSW |
2 |
27,087,702 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1565:Sardh
|
UTSW |
2 |
27,132,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1832:Sardh
|
UTSW |
2 |
27,125,581 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1836:Sardh
|
UTSW |
2 |
27,105,194 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1997:Sardh
|
UTSW |
2 |
27,134,409 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2006:Sardh
|
UTSW |
2 |
27,118,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2046:Sardh
|
UTSW |
2 |
27,105,094 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2242:Sardh
|
UTSW |
2 |
27,125,527 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2897:Sardh
|
UTSW |
2 |
27,079,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4332:Sardh
|
UTSW |
2 |
27,105,126 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4807:Sardh
|
UTSW |
2 |
27,079,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4841:Sardh
|
UTSW |
2 |
27,081,967 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4842:Sardh
|
UTSW |
2 |
27,081,967 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4856:Sardh
|
UTSW |
2 |
27,134,489 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4936:Sardh
|
UTSW |
2 |
27,118,253 (GRCm39) |
splice site |
probably null |
|
|
R5089:Sardh
|
UTSW |
2 |
27,129,625 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5110:Sardh
|
UTSW |
2 |
27,079,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5257:Sardh
|
UTSW |
2 |
27,134,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5406:Sardh
|
UTSW |
2 |
27,101,096 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5450:Sardh
|
UTSW |
2 |
27,129,710 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5594:Sardh
|
UTSW |
2 |
27,110,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5870:Sardh
|
UTSW |
2 |
27,110,653 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6014:Sardh
|
UTSW |
2 |
27,087,540 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6021:Sardh
|
UTSW |
2 |
27,079,655 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6577:Sardh
|
UTSW |
2 |
27,108,867 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6750:Sardh
|
UTSW |
2 |
27,118,269 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7035:Sardh
|
UTSW |
2 |
27,120,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7162:Sardh
|
UTSW |
2 |
27,087,702 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7256:Sardh
|
UTSW |
2 |
27,108,824 (GRCm39) |
missense |
probably benign |
|
|
R7692:Sardh
|
UTSW |
2 |
27,087,651 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7709:Sardh
|
UTSW |
2 |
27,131,529 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7884:Sardh
|
UTSW |
2 |
27,129,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8028:Sardh
|
UTSW |
2 |
27,120,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8095:Sardh
|
UTSW |
2 |
27,132,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8120:Sardh
|
UTSW |
2 |
27,108,863 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8302:Sardh
|
UTSW |
2 |
27,105,122 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8323:Sardh
|
UTSW |
2 |
27,125,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8535:Sardh
|
UTSW |
2 |
27,129,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8704:Sardh
|
UTSW |
2 |
27,120,477 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8781:Sardh
|
UTSW |
2 |
27,086,715 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8858:Sardh
|
UTSW |
2 |
27,118,302 (GRCm39) |
missense |
probably null |
1.00 |
|
R9265:Sardh
|
UTSW |
2 |
27,105,065 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9337:Sardh
|
UTSW |
2 |
27,086,678 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9342:Sardh
|
UTSW |
2 |
27,120,869 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9539:Sardh
|
UTSW |
2 |
27,134,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9600:Sardh
|
UTSW |
2 |
27,120,513 (GRCm39) |
missense |
probably benign |
|
|
R9714:Sardh
|
UTSW |
2 |
27,079,641 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
X0011:Sardh
|
UTSW |
2 |
27,132,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Sardh
|
UTSW |
2 |
27,108,902 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1176:Sardh
|
UTSW |
2 |
27,108,846 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1176:Sardh
|
UTSW |
2 |
27,086,685 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1177:Sardh
|
UTSW |
2 |
27,125,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATGAAGTCTGGCTGGCC -3'
(R):5'- TGTTGCTTCCCCAAGGTAC -3'
Sequencing Primer
(F):5'- AGAGGTCAGTCGCTCTCTC -3'
(R):5'- TTGCTTCCCCAAGGTACAGGAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation