Incidental Mutation 'R5406:Sardh'
ID |
426263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sardh
|
Ensembl Gene |
ENSMUSG00000009614 |
Gene Name |
sarcosine dehydrogenase |
Synonyms |
|
MMRRC Submission |
042976-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R5406 (G1)
|
Quality Score |
206 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27101096 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 698
(V698A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099950
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102886]
|
AlphaFold |
Q99LB7 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000091224
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102886
AA Change: V698A
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099950 Gene: ENSMUSG00000009614 AA Change: V698A
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 |
noncoding transcript
Transcript: ENSMUST00000127805
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144448
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147089
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156434
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170435
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
|
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 |
Aasdhppt |
A |
T |
9: 4,309,387 (GRCm39) |
V17D |
probably damaging |
Het |
Abcb1a |
C |
A |
5: 8,752,946 (GRCm39) |
Q566K |
probably damaging |
Het |
Adam26a |
A |
T |
8: 44,022,141 (GRCm39) |
C450S |
probably damaging |
Het |
Adar |
C |
T |
3: 89,643,418 (GRCm39) |
P433L |
probably damaging |
Het |
Aldh1a2 |
G |
T |
9: 71,162,403 (GRCm39) |
A151S |
possibly damaging |
Het |
Arsk |
T |
A |
13: 76,242,066 (GRCm39) |
H69L |
probably benign |
Het |
Atf6b |
T |
A |
17: 34,872,771 (GRCm39) |
Y600* |
probably null |
Het |
Blk |
C |
A |
14: 63,618,180 (GRCm39) |
G242V |
probably damaging |
Het |
Bmt2 |
A |
T |
6: 13,677,831 (GRCm39) |
M1K |
probably null |
Het |
Catsperg1 |
G |
A |
7: 28,884,948 (GRCm39) |
T891M |
probably damaging |
Het |
Ccdc32 |
A |
C |
2: 118,852,560 (GRCm39) |
S131A |
possibly damaging |
Het |
Cdh8 |
A |
G |
8: 99,923,002 (GRCm39) |
V298A |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,837,720 (GRCm39) |
Q1060L |
probably benign |
Het |
Cfap58 |
G |
A |
19: 48,017,541 (GRCm39) |
M800I |
possibly damaging |
Het |
Cntn5 |
A |
T |
9: 9,833,465 (GRCm39) |
V362D |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
G2e3 |
T |
C |
12: 51,419,449 (GRCm39) |
S699P |
probably damaging |
Het |
Gbp4 |
G |
T |
5: 105,267,387 (GRCm39) |
Q511K |
possibly damaging |
Het |
Gdap2 |
T |
A |
3: 100,098,991 (GRCm39) |
I361N |
probably damaging |
Het |
Ino80c |
T |
A |
18: 24,245,819 (GRCm39) |
H92L |
probably benign |
Het |
Lipo4 |
A |
G |
19: 33,480,618 (GRCm39) |
V250A |
probably benign |
Het |
Llgl1 |
C |
T |
11: 60,604,010 (GRCm39) |
R1055W |
probably damaging |
Het |
Lrriq3 |
T |
C |
3: 154,835,138 (GRCm39) |
|
probably null |
Het |
Mmp1a |
A |
G |
9: 7,467,294 (GRCm39) |
E290G |
probably damaging |
Het |
Ncstn |
A |
G |
1: 171,899,731 (GRCm39) |
V317A |
probably benign |
Het |
Nfxl1 |
G |
A |
5: 72,713,541 (GRCm39) |
T134I |
possibly damaging |
Het |
Nup155 |
A |
T |
15: 8,183,122 (GRCm39) |
|
probably null |
Het |
Nup214 |
C |
A |
2: 31,892,619 (GRCm39) |
P680T |
probably damaging |
Het |
Or6c212 |
G |
A |
10: 129,558,799 (GRCm39) |
L205F |
probably damaging |
Het |
Or7h8 |
A |
G |
9: 20,124,454 (GRCm39) |
K270E |
probably benign |
Het |
Or8b12 |
A |
G |
9: 37,657,943 (GRCm39) |
N171S |
probably benign |
Het |
Or8b9 |
G |
A |
9: 37,766,515 (GRCm39) |
V134I |
probably benign |
Het |
Pkd2 |
T |
C |
5: 104,628,198 (GRCm39) |
F424S |
probably damaging |
Het |
Plb1 |
A |
G |
5: 32,499,259 (GRCm39) |
D1074G |
probably damaging |
Het |
Ppm1l |
T |
C |
3: 69,224,927 (GRCm39) |
S10P |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,331,634 (GRCm39) |
H2281R |
probably damaging |
Het |
Rpa2 |
G |
T |
4: 132,503,559 (GRCm39) |
A3S |
probably benign |
Het |
Saxo2 |
A |
T |
7: 82,284,586 (GRCm39) |
C91S |
probably benign |
Het |
Slc3a2 |
T |
C |
19: 8,685,406 (GRCm39) |
D198G |
probably damaging |
Het |
Spata31d1d |
T |
A |
13: 59,876,592 (GRCm39) |
E314D |
probably benign |
Het |
Sptlc3 |
T |
C |
2: 139,388,398 (GRCm39) |
V130A |
probably benign |
Het |
Stpg3 |
C |
A |
2: 25,103,580 (GRCm39) |
E115* |
probably null |
Het |
Tbcd |
T |
A |
11: 121,342,927 (GRCm39) |
D19E |
probably benign |
Het |
Xrcc3 |
T |
C |
12: 111,778,545 (GRCm39) |
D2G |
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 |
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 |
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'- TGCCAGCATCTCTGACAGAC -3'
(R):5'- AACTCACCTATAGCCCGGCTTC -3'
Sequencing Primer
(F):5'- AGCATCTCTGACAGACCTTGG -3'
(R):5'- ATAGCCCGGCTTCCCTGAC -3'
|
Posted On |
2016-09-01 |