Incidental Mutation 'R7256:Sardh'
| ID |
564242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sardh
|
| Ensembl Gene |
ENSMUSG00000009614 |
| Gene Name |
sarcosine dehydrogenase |
| Synonyms |
|
| MMRRC Submission |
045317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R7256 (G1)
|
| Quality Score |
189.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27108824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 637
(V637D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102886]
|
| AlphaFold |
Q99LB7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102886
AA Change: V637D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: V637D
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (70/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
A |
G |
16: 85,659,923 (GRCm39) |
Y790H |
probably damaging |
Het |
| Bend3 |
A |
C |
10: 43,369,667 (GRCm39) |
S7R |
probably benign |
Het |
| Ccdc106 |
A |
G |
7: 5,063,325 (GRCm39) |
T277A |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,431,997 (GRCm39) |
A1832V |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,288,851 (GRCm39) |
E338G |
probably benign |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cecr2 |
T |
C |
6: 120,739,490 (GRCm39) |
S1406P |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,382,360 (GRCm39) |
T208A |
probably damaging |
Het |
| Cep85l |
A |
C |
10: 53,172,351 (GRCm39) |
C569W |
probably damaging |
Het |
| Ces5a |
G |
A |
8: 94,226,154 (GRCm39) |
T527I |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,796,608 (GRCm39) |
I200F |
probably damaging |
Het |
| Cmas |
G |
A |
6: 142,716,312 (GRCm39) |
D251N |
probably damaging |
Het |
| Ctcfl |
G |
T |
2: 172,960,268 (GRCm39) |
A105E |
probably benign |
Het |
| Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
| Dctn6 |
A |
T |
8: 34,557,962 (GRCm39) |
I170N |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,321,920 (GRCm39) |
Y3800C |
probably damaging |
Het |
| Dsg2 |
G |
A |
18: 20,724,988 (GRCm39) |
V465I |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,123,058 (GRCm39) |
T646A |
probably benign |
Het |
| Etv4 |
T |
A |
11: 101,675,151 (GRCm39) |
|
probably null |
Het |
| Exoc3l2 |
T |
C |
7: 19,218,628 (GRCm39) |
V549A |
unknown |
Het |
| Ficd |
G |
T |
5: 113,876,880 (GRCm39) |
A352S |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,390,251 (GRCm39) |
I179S |
|
Het |
| Galntl5 |
A |
G |
5: 25,400,298 (GRCm39) |
H109R |
probably benign |
Het |
| Garem1 |
C |
A |
18: 21,281,811 (GRCm39) |
G182W |
probably damaging |
Het |
| Gm5916 |
A |
T |
9: 36,032,285 (GRCm39) |
Y50N |
possibly damaging |
Het |
| Gtf2h2 |
A |
T |
13: 100,615,709 (GRCm39) |
F271I |
probably benign |
Het |
| Hivep2 |
G |
T |
10: 14,004,845 (GRCm39) |
S481I |
probably benign |
Het |
| Homez |
T |
A |
14: 55,094,877 (GRCm39) |
Q277L |
probably damaging |
Het |
| Hoxb4 |
C |
A |
11: 96,210,722 (GRCm39) |
|
probably null |
Het |
| Igll1 |
A |
G |
16: 16,678,957 (GRCm39) |
S118P |
probably damaging |
Het |
| Ikzf2 |
A |
C |
1: 69,617,212 (GRCm39) |
|
probably null |
Het |
| Kif5b |
A |
G |
18: 6,225,340 (GRCm39) |
V230A |
probably damaging |
Het |
| Ldlr |
T |
A |
9: 21,657,040 (GRCm39) |
V719E |
probably benign |
Het |
| Lsm7 |
G |
A |
10: 80,689,565 (GRCm39) |
R66W |
possibly damaging |
Het |
| Map3k13 |
T |
A |
16: 21,710,988 (GRCm39) |
D90E |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,953,098 (GRCm39) |
K460E |
probably damaging |
Het |
| Myh10 |
A |
C |
11: 68,681,515 (GRCm39) |
N1061H |
probably damaging |
Het |
| Nepn |
A |
G |
10: 52,277,089 (GRCm39) |
Q275R |
probably benign |
Het |
| Noc3l |
A |
T |
19: 38,800,800 (GRCm39) |
D227E |
probably benign |
Het |
| Nploc4 |
G |
T |
11: 120,319,376 (GRCm39) |
S61R |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,002,381 (GRCm39) |
Y24C |
probably damaging |
Het |
| Nup160 |
T |
A |
2: 90,553,699 (GRCm39) |
I1143N |
probably damaging |
Het |
| Or14a256 |
G |
T |
7: 86,264,873 (GRCm39) |
H327N |
probably benign |
Het |
| Or4a15 |
A |
T |
2: 89,192,838 (GRCm39) |
Y312N |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,180,004 (GRCm39) |
M57K |
probably damaging |
Het |
| Or8h7 |
A |
G |
2: 86,720,956 (GRCm39) |
S188P |
probably damaging |
Het |
| Papola |
T |
A |
12: 105,775,604 (GRCm39) |
C204S |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,532,366 (GRCm39) |
|
probably null |
Het |
| Pitrm1 |
A |
G |
13: 6,606,633 (GRCm39) |
H229R |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,737,377 (GRCm39) |
Q906R |
probably benign |
Het |
| Ppfia3 |
T |
C |
7: 44,991,167 (GRCm39) |
N1018S |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,452,849 (GRCm39) |
D93E |
probably benign |
Het |
| Prkd1 |
A |
G |
12: 50,435,125 (GRCm39) |
V534A |
possibly damaging |
Het |
| Pygm |
A |
T |
19: 6,435,926 (GRCm39) |
I126F |
probably benign |
Het |
| Rag1 |
T |
C |
2: 101,472,415 (GRCm39) |
Y909C |
probably damaging |
Het |
| Rasgrf2 |
G |
A |
13: 92,032,637 (GRCm39) |
Q560* |
probably null |
Het |
| Rbp3 |
A |
T |
14: 33,684,540 (GRCm39) |
I1190F |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,183,921 (GRCm39) |
K1693E |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rsph3a |
A |
G |
17: 8,165,002 (GRCm39) |
T121A |
probably benign |
Het |
| Rufy3 |
A |
G |
5: 88,762,806 (GRCm39) |
N112S |
possibly damaging |
Het |
| Ryr3 |
G |
A |
2: 112,502,591 (GRCm39) |
Q3548* |
probably null |
Het |
| Spata16 |
T |
C |
3: 26,722,016 (GRCm39) |
V179A |
probably benign |
Het |
| Spopfm2 |
T |
C |
3: 94,083,667 (GRCm39) |
E48G |
probably benign |
Het |
| Tbc1d30 |
G |
A |
10: 121,124,870 (GRCm39) |
T319I |
probably damaging |
Het |
| Tlr2 |
T |
A |
3: 83,744,913 (GRCm39) |
Q390L |
possibly damaging |
Het |
| Tmem53 |
C |
T |
4: 117,109,237 (GRCm39) |
|
probably null |
Het |
| Vmn1r113 |
T |
A |
7: 20,521,370 (GRCm39) |
I54N |
probably damaging |
Het |
| Vmn1r223 |
A |
C |
13: 23,434,036 (GRCm39) |
Y210S |
probably damaging |
Het |
| Zbbx |
A |
T |
3: 74,947,205 (GRCm39) |
H670Q |
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 |
|
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 |
|
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'- ACAGAGCCTGCATTTAGCCTG -3'
(R):5'- TCATAGGGTAGGAGGCCTTATGAG -3'
Sequencing Primer
(F):5'- CTGCATTTAGCCTGAAATGAGACCG -3'
(R):5'- TAGGAGGCCTTATGAGGGAGACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation