Incidental Mutation 'R8781:Sardh'
| ID |
670235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sardh
|
| Ensembl Gene |
ENSMUSG00000009614 |
| Gene Name |
sarcosine dehydrogenase |
| Synonyms |
|
| MMRRC Submission |
068605-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R8781 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27086715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 815
(E815V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102886]
|
| AlphaFold |
Q99LB7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102886
AA Change: E815V
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: E815V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (59/59) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
A |
G |
19: 3,767,538 (GRCm39) |
D375G |
possibly damaging |
Het |
| Abi3bp |
C |
T |
16: 56,426,512 (GRCm39) |
T509I |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,723,691 (GRCm39) |
C257S |
probably benign |
Het |
| Ccdc183 |
T |
A |
2: 25,502,208 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
C |
T |
9: 78,543,929 (GRCm39) |
P158S |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,167,567 (GRCm39) |
E1810K |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,883,249 (GRCm39) |
W393R |
probably damaging |
Het |
| Cyth1 |
C |
T |
11: 118,073,069 (GRCm39) |
R277Q |
probably damaging |
Het |
| Ddx54 |
G |
T |
5: 120,751,217 (GRCm39) |
R6L |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,944,078 (GRCm39) |
I1765N |
probably damaging |
Het |
| Erp27 |
G |
A |
6: 136,886,458 (GRCm39) |
Q192* |
probably null |
Het |
| Fam81a |
T |
A |
9: 70,032,381 (GRCm39) |
H37L |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,194,719 (GRCm39) |
S1481P |
possibly damaging |
Het |
| Fbp1 |
T |
G |
13: 63,016,831 (GRCm39) |
I224L |
probably benign |
Het |
| Fhit |
A |
G |
14: 10,421,503 (GRCm38) |
V32A |
probably damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,610,698 (GRCm39) |
H495L |
probably benign |
Het |
| Gas2l3 |
T |
C |
10: 89,266,841 (GRCm39) |
D33G |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,102,738 (GRCm39) |
D1213E |
probably benign |
Het |
| Hsf2bp |
C |
G |
17: 32,252,241 (GRCm39) |
E65Q |
possibly damaging |
Het |
| Kif28 |
G |
T |
1: 179,525,481 (GRCm39) |
T937K |
probably benign |
Het |
| Klf6 |
T |
A |
13: 5,915,071 (GRCm39) |
V170D |
probably benign |
Het |
| Kri1 |
A |
T |
9: 21,191,748 (GRCm39) |
S283T |
|
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Lct |
A |
G |
1: 128,215,261 (GRCm39) |
Y1772H |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,508,958 (GRCm39) |
E1003D |
unknown |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Or2b2b |
A |
G |
13: 21,859,013 (GRCm39) |
S34P |
probably damaging |
Het |
| Or52j3 |
T |
A |
7: 102,836,082 (GRCm39) |
D91E |
probably benign |
Het |
| Or8c14-ps1 |
T |
G |
9: 38,101,385 (GRCm39) |
D121E |
probably damaging |
Het |
| Parg |
T |
A |
14: 31,936,400 (GRCm39) |
D518E |
probably benign |
Het |
| Pcx |
G |
A |
19: 4,670,980 (GRCm39) |
A1095T |
probably damaging |
Het |
| Pde1b |
G |
A |
15: 103,433,727 (GRCm39) |
V342M |
probably damaging |
Het |
| Pik3r2 |
C |
T |
8: 71,222,046 (GRCm39) |
G579D |
possibly damaging |
Het |
| Pknox1 |
G |
A |
17: 31,821,837 (GRCm39) |
|
probably benign |
Het |
| Pla2g3 |
C |
A |
11: 3,438,530 (GRCm39) |
T60K |
probably benign |
Het |
| Ppfia3 |
C |
T |
7: 44,997,953 (GRCm39) |
E725K |
possibly damaging |
Het |
| Ppl |
C |
T |
16: 4,915,800 (GRCm39) |
V588I |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,567,775 (GRCm39) |
E273G |
probably benign |
Het |
| Slc7a8 |
A |
T |
14: 54,996,996 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
G |
A |
11: 86,971,147 (GRCm39) |
P875S |
possibly damaging |
Het |
| Sncaip |
T |
C |
18: 53,039,614 (GRCm39) |
S603P |
probably benign |
Het |
| Speg |
G |
A |
1: 75,383,665 (GRCm39) |
G1218S |
probably damaging |
Het |
| Stk31 |
A |
T |
6: 49,383,709 (GRCm39) |
D92V |
probably damaging |
Het |
| Suco |
A |
G |
1: 161,645,951 (GRCm39) |
V1250A |
probably damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,589,850 (GRCm39) |
V132A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,143,263 (GRCm39) |
I524T |
probably damaging |
Het |
| Tenm3 |
CTGCTGTGAAATG |
C |
8: 48,795,484 (GRCm39) |
|
probably null |
Het |
| Tln2 |
C |
A |
9: 67,163,233 (GRCm39) |
V1105L |
probably damaging |
Het |
| Tmem19 |
T |
C |
10: 115,195,563 (GRCm39) |
|
probably benign |
Het |
| Tmprss4 |
T |
C |
9: 45,087,740 (GRCm39) |
Y283C |
possibly damaging |
Het |
| Trim29 |
T |
A |
9: 43,222,615 (GRCm39) |
V148D |
probably benign |
Het |
| Trip10 |
C |
T |
17: 57,562,313 (GRCm39) |
A277V |
probably benign |
Het |
| Usp12 |
C |
A |
5: 146,700,172 (GRCm39) |
R61L |
probably benign |
Het |
| Vmn1r58 |
T |
G |
7: 5,413,482 (GRCm39) |
L249F |
probably benign |
Het |
| Vmn2r31 |
C |
T |
7: 7,387,400 (GRCm39) |
V724I |
possibly damaging |
Het |
| Vmn2r66 |
C |
T |
7: 84,644,355 (GRCm39) |
W685* |
probably null |
Het |
| Vmn2r8 |
A |
G |
5: 108,945,597 (GRCm39) |
I670T |
possibly damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,305,323 (GRCm39) |
M2K |
possibly damaging |
Het |
| Wdr12 |
A |
G |
1: 60,126,300 (GRCm39) |
W172R |
probably damaging |
Het |
| Yipf5 |
A |
T |
18: 40,340,752 (GRCm39) |
V200E |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,031,801 (GRCm39) |
K713R |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,942,476 (GRCm39) |
S554P |
probably damaging |
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 |
|
R6470:Sardh
|
UTSW |
2 |
27,134,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGTAGATAGAGCTCCTGGGC -3'
(R):5'- TATGGGTATGGACAGCACCCAC -3'
Sequencing Primer
(F):5'- TAGATAGAGCTCCTGGGCCTCAC -3'
(R):5'- ACCCACATATATCTTCTAAGGGCTTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation