Incidental Mutation 'R2046:Sardh'
ID |
221919 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sardh
|
Ensembl Gene |
ENSMUSG00000009614 |
Gene Name |
sarcosine dehydrogenase |
Synonyms |
|
MMRRC Submission |
040053-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R2046 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 27105094 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 676
(D676E)
|
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: D676E
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099950 Gene: ENSMUSG00000009614 AA Change: D676E
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: ENSMUST00000170435
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
97% (71/73) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
T |
A |
18: 70,600,553 (GRCm39) |
D84V |
probably damaging |
Het |
Abcc5 |
A |
T |
16: 20,218,567 (GRCm39) |
S272T |
possibly damaging |
Het |
Adgre4 |
A |
G |
17: 56,085,847 (GRCm39) |
N49D |
possibly damaging |
Het |
Ap2b1 |
A |
T |
11: 83,227,212 (GRCm39) |
Y328F |
probably benign |
Het |
Arhgef33 |
G |
C |
17: 80,680,895 (GRCm39) |
E678D |
probably benign |
Het |
Arid2 |
G |
A |
15: 96,267,268 (GRCm39) |
V583I |
probably damaging |
Het |
Bdkrb1 |
T |
A |
12: 105,570,985 (GRCm39) |
S184T |
probably benign |
Het |
Bend3 |
T |
C |
10: 43,387,842 (GRCm39) |
F745S |
probably damaging |
Het |
Card10 |
A |
T |
15: 78,671,673 (GRCm39) |
V597E |
possibly damaging |
Het |
Casp3 |
T |
A |
8: 47,082,761 (GRCm39) |
|
probably benign |
Het |
Ccnb2 |
A |
G |
9: 70,316,629 (GRCm39) |
V340A |
probably benign |
Het |
Cdkl3 |
G |
T |
11: 51,917,677 (GRCm39) |
V325L |
probably benign |
Het |
Clec4n |
T |
A |
6: 123,223,463 (GRCm39) |
N153K |
probably benign |
Het |
Crtac1 |
C |
T |
19: 42,322,492 (GRCm39) |
V83I |
probably damaging |
Het |
Cul9 |
C |
A |
17: 46,854,659 (GRCm39) |
L14F |
probably damaging |
Het |
Dgka |
T |
C |
10: 128,559,404 (GRCm39) |
Y519C |
probably damaging |
Het |
Dhrs7 |
T |
G |
12: 72,699,040 (GRCm39) |
K314T |
possibly damaging |
Het |
Dnaaf9 |
T |
A |
2: 130,652,837 (GRCm39) |
I42L |
possibly damaging |
Het |
Dnah10 |
G |
T |
5: 124,873,405 (GRCm39) |
K2542N |
probably benign |
Het |
Dock5 |
A |
T |
14: 68,049,591 (GRCm39) |
V731E |
probably benign |
Het |
Dpy19l1 |
T |
A |
9: 24,334,455 (GRCm39) |
H571L |
probably damaging |
Het |
Dzip1 |
A |
T |
14: 119,159,890 (GRCm39) |
I106N |
probably damaging |
Het |
Eif2ak4 |
A |
T |
2: 118,281,889 (GRCm39) |
|
probably benign |
Het |
Epha4 |
T |
C |
1: 77,483,799 (GRCm39) |
Y70C |
probably damaging |
Het |
Eps15 |
T |
C |
4: 109,227,793 (GRCm39) |
F344S |
probably damaging |
Het |
Erbb4 |
C |
T |
1: 68,337,482 (GRCm39) |
R612Q |
probably benign |
Het |
Fam83h |
T |
C |
15: 75,874,787 (GRCm39) |
H850R |
probably benign |
Het |
Fancg |
A |
G |
4: 43,004,604 (GRCm39) |
C484R |
probably damaging |
Het |
Fzd9 |
A |
G |
5: 135,278,538 (GRCm39) |
I449T |
probably damaging |
Het |
Gm10647 |
A |
G |
9: 66,705,519 (GRCm39) |
|
probably benign |
Het |
Iigp1c |
T |
A |
18: 60,378,571 (GRCm39) |
H35Q |
probably benign |
Het |
Itga11 |
C |
T |
9: 62,634,979 (GRCm39) |
L86F |
probably damaging |
Het |
Lamc2 |
C |
T |
1: 153,017,511 (GRCm39) |
R492H |
probably benign |
Het |
Marchf6 |
A |
G |
15: 31,486,580 (GRCm39) |
V325A |
probably benign |
Het |
Myo5b |
A |
T |
18: 74,710,526 (GRCm39) |
I47F |
probably benign |
Het |
Nek9 |
T |
A |
12: 85,367,481 (GRCm39) |
|
probably benign |
Het |
Nelfb |
T |
A |
2: 25,096,323 (GRCm39) |
N262I |
probably damaging |
Het |
Neurl4 |
A |
G |
11: 69,799,523 (GRCm39) |
D942G |
probably damaging |
Het |
Nipbl |
G |
A |
15: 8,353,951 (GRCm39) |
P1729S |
probably benign |
Het |
Nr4a3 |
A |
G |
4: 48,067,807 (GRCm39) |
T468A |
possibly damaging |
Het |
Nrm |
G |
A |
17: 36,175,109 (GRCm39) |
V146I |
probably benign |
Het |
Or8h9 |
C |
A |
2: 86,789,077 (GRCm39) |
A242S |
possibly damaging |
Het |
Pitx3 |
T |
C |
19: 46,125,618 (GRCm39) |
E42G |
possibly damaging |
Het |
Pkd1l2 |
C |
T |
8: 117,726,694 (GRCm39) |
A2271T |
probably damaging |
Het |
Pofut2 |
A |
G |
10: 77,096,428 (GRCm39) |
N51S |
probably damaging |
Het |
Ppp1r3a |
T |
C |
6: 14,722,103 (GRCm39) |
E273G |
probably benign |
Het |
Psme4 |
A |
G |
11: 30,767,723 (GRCm39) |
|
probably benign |
Het |
Pus7l |
T |
C |
15: 94,438,666 (GRCm39) |
I60V |
probably benign |
Het |
Pygo2 |
T |
A |
3: 89,340,455 (GRCm39) |
N284K |
possibly damaging |
Het |
Ralgapa1 |
C |
T |
12: 55,741,945 (GRCm39) |
C1368Y |
probably damaging |
Het |
Rbm45 |
G |
A |
2: 76,205,742 (GRCm39) |
G198E |
probably benign |
Het |
Reln |
T |
C |
5: 22,147,625 (GRCm39) |
I2442V |
probably benign |
Het |
Rmi1 |
T |
C |
13: 58,555,772 (GRCm39) |
V7A |
probably benign |
Het |
Rsf1 |
T |
C |
7: 97,310,884 (GRCm39) |
L538P |
probably benign |
Het |
Rsph4a |
T |
G |
10: 33,790,539 (GRCm39) |
|
probably benign |
Het |
Sh3tc2 |
A |
G |
18: 62,123,914 (GRCm39) |
M892V |
probably benign |
Het |
Slc38a11 |
A |
G |
2: 65,188,529 (GRCm39) |
F80S |
probably damaging |
Het |
Slc6a2 |
C |
A |
8: 93,699,554 (GRCm39) |
S194* |
probably null |
Het |
Slco2b1 |
A |
G |
7: 99,339,686 (GRCm39) |
F86L |
probably damaging |
Het |
Smc3 |
G |
A |
19: 53,627,845 (GRCm39) |
D875N |
probably benign |
Het |
Sp100 |
G |
A |
1: 85,636,786 (GRCm39) |
E575K |
possibly damaging |
Het |
Spns2 |
A |
G |
11: 72,349,866 (GRCm39) |
L196P |
possibly damaging |
Het |
Taf8 |
A |
G |
17: 47,801,201 (GRCm39) |
S261P |
probably benign |
Het |
Trim2 |
A |
G |
3: 84,115,596 (GRCm39) |
L86P |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,738,138 (GRCm39) |
V4134F |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,089,124 (GRCm39) |
T360A |
probably benign |
Het |
Usp28 |
T |
A |
9: 48,950,375 (GRCm39) |
C935S |
probably damaging |
Het |
Vps37d |
T |
A |
5: 135,102,831 (GRCm39) |
M134L |
probably benign |
Het |
Vwa2 |
T |
G |
19: 56,894,010 (GRCm39) |
V329G |
probably benign |
Het |
Zfp110 |
A |
G |
7: 12,583,349 (GRCm39) |
R666G |
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 |
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 |
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'- TGTTCAGTCCCAATTAGGCAG -3'
(R):5'- CAGGAAGAGGCCCTTGATATTG -3'
Sequencing Primer
(F):5'- TCAGTCCCAATTAGGCAGAGTGTC -3'
(R):5'- GCAAGCTATACACTTTCCTCAGTGAG -3'
|
Posted On |
2014-08-25 |