Incidental Mutation 'R6750:Sardh'
| ID |
530677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sardh
|
| Ensembl Gene |
ENSMUSG00000009614 |
| Gene Name |
sarcosine dehydrogenase |
| Synonyms |
|
| MMRRC Submission |
044867-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R6750 (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 C
at 27118269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 487
(D487G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102886]
|
| AlphaFold |
Q99LB7 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000091224
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102886
AA Change: D487G
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: D487G
| 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: ENSMUST00000144448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170435
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
100% (75/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
A |
T |
2: 120,973,130 (GRCm39) |
L62F |
probably damaging |
Het |
| Akap13 |
C |
T |
7: 75,389,206 (GRCm39) |
P2375S |
probably benign |
Het |
| Apob |
T |
A |
12: 8,047,853 (GRCm39) |
L931Q |
probably damaging |
Het |
| Arcn1 |
A |
G |
9: 44,661,691 (GRCm39) |
V391A |
possibly damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,437,222 (GRCm39) |
I1729N |
possibly damaging |
Het |
| Cd24a |
T |
C |
10: 43,458,721 (GRCm39) |
L86P |
unknown |
Het |
| Cdcp3 |
T |
A |
7: 130,889,974 (GRCm39) |
|
probably benign |
Het |
| Churc1 |
C |
A |
12: 76,822,405 (GRCm39) |
H71Q |
probably damaging |
Het |
| Clcn3 |
A |
G |
8: 61,367,809 (GRCm39) |
L780P |
possibly damaging |
Het |
| Cldn17 |
C |
T |
16: 88,303,195 (GRCm39) |
G178E |
possibly damaging |
Het |
| Cmah |
A |
G |
13: 24,648,235 (GRCm39) |
Y345C |
probably damaging |
Het |
| Cntnap5b |
C |
T |
1: 100,202,224 (GRCm39) |
S357L |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,660,879 (GRCm39) |
I410T |
probably damaging |
Het |
| Crmp1 |
T |
C |
5: 37,422,666 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
A |
C |
4: 128,091,018 (GRCm39) |
N186H |
possibly damaging |
Het |
| Cyp1a1 |
A |
T |
9: 57,607,539 (GRCm39) |
M56L |
probably benign |
Het |
| D2hgdh |
G |
C |
1: 93,754,129 (GRCm39) |
R56P |
probably benign |
Het |
| Dapk2 |
A |
G |
9: 66,128,034 (GRCm39) |
E104G |
probably damaging |
Het |
| Dld |
T |
C |
12: 31,382,213 (GRCm39) |
N498S |
probably benign |
Het |
| Dyrk4 |
G |
T |
6: 126,875,918 (GRCm39) |
Q106K |
probably benign |
Het |
| Eif2b4 |
T |
C |
5: 31,347,304 (GRCm39) |
I333V |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,021,076 (GRCm39) |
T1184A |
possibly damaging |
Het |
| Fbxl6 |
C |
T |
15: 76,422,612 (GRCm39) |
G102D |
probably damaging |
Het |
| Foxa1 |
C |
T |
12: 57,589,396 (GRCm39) |
G275R |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,179,575 (GRCm39) |
I2944T |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,350,117 (GRCm39) |
D95G |
probably benign |
Het |
| Greb1 |
T |
A |
12: 16,738,584 (GRCm39) |
M1460L |
probably benign |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
C |
7: 55,747,195 (GRCm39) |
I444T |
probably damaging |
Het |
| Ifngr1 |
T |
A |
10: 19,485,099 (GRCm39) |
M366K |
probably benign |
Het |
| Krt27 |
C |
T |
11: 99,239,806 (GRCm39) |
E253K |
probably damaging |
Het |
| Mical2 |
C |
T |
7: 111,981,046 (GRCm39) |
T406I |
probably damaging |
Het |
| Mocs2 |
T |
G |
13: 114,962,784 (GRCm39) |
D156E |
probably damaging |
Het |
| Mprip |
A |
T |
11: 59,586,957 (GRCm39) |
K43N |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,750,106 (GRCm39) |
T190S |
possibly damaging |
Het |
| Naa25 |
C |
T |
5: 121,546,372 (GRCm39) |
T86M |
probably damaging |
Het |
| Ncam1 |
T |
C |
9: 49,478,639 (GRCm39) |
D163G |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,329,468 (GRCm39) |
Y908* |
probably null |
Het |
| Nlrp9b |
T |
A |
7: 19,757,159 (GRCm39) |
L132* |
probably null |
Het |
| Nrg1 |
A |
C |
8: 32,308,124 (GRCm39) |
S679A |
probably damaging |
Het |
| Or1j1 |
C |
A |
2: 36,702,954 (GRCm39) |
R50M |
possibly damaging |
Het |
| Or52p1 |
C |
T |
7: 104,267,320 (GRCm39) |
R145C |
probably damaging |
Het |
| Paqr9 |
A |
T |
9: 95,443,050 (GRCm39) |
T347S |
probably damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,647,501 (GRCm39) |
L210P |
probably damaging |
Het |
| Pdzd7 |
T |
G |
19: 45,016,187 (GRCm39) |
D978A |
probably benign |
Het |
| Phf8-ps |
A |
T |
17: 33,285,372 (GRCm39) |
S477T |
possibly damaging |
Het |
| Pkd1l1 |
A |
T |
11: 8,923,217 (GRCm39) |
S17T |
unknown |
Het |
| Plcz1 |
T |
C |
6: 139,974,164 (GRCm39) |
K93E |
possibly damaging |
Het |
| Pom121l2 |
G |
C |
13: 22,166,107 (GRCm39) |
R126P |
probably damaging |
Het |
| Prkg1 |
C |
T |
19: 31,741,961 (GRCm39) |
E88K |
probably benign |
Het |
| Psme4 |
A |
T |
11: 30,803,203 (GRCm39) |
D15V |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,088,928 (GRCm39) |
V625A |
probably benign |
Het |
| Rab27a |
G |
A |
9: 72,992,290 (GRCm39) |
S106N |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,129,802 (GRCm39) |
T261A |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,330,030 (GRCm39) |
Y662H |
probably benign |
Het |
| Sema3d |
T |
A |
5: 12,635,067 (GRCm39) |
L711* |
probably null |
Het |
| Septin14 |
T |
A |
5: 129,773,181 (GRCm39) |
Y152F |
probably damaging |
Het |
| Smc5 |
A |
G |
19: 23,220,004 (GRCm39) |
L411P |
probably damaging |
Het |
| Spata31e5 |
C |
A |
1: 28,816,495 (GRCm39) |
E512D |
probably damaging |
Het |
| Spg7 |
T |
A |
8: 123,800,650 (GRCm39) |
V39E |
probably damaging |
Het |
| Tas2r117 |
A |
G |
6: 132,779,817 (GRCm39) |
|
probably benign |
Het |
| Tle1 |
A |
T |
4: 72,040,687 (GRCm39) |
I631N |
probably damaging |
Het |
| Tmed3 |
T |
A |
9: 89,581,843 (GRCm39) |
S207C |
probably damaging |
Het |
| Tmem59l |
G |
A |
8: 70,939,022 (GRCm39) |
P51S |
probably benign |
Het |
| Trpc3 |
A |
G |
3: 36,678,542 (GRCm39) |
Y848H |
probably damaging |
Het |
| Tsen2 |
T |
C |
6: 115,526,881 (GRCm39) |
F66S |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 86,003,384 (GRCm39) |
S216R |
probably damaging |
Het |
| Usp22 |
A |
T |
11: 61,048,042 (GRCm39) |
V426E |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,875,114 (GRCm39) |
N621S |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,856,539 (GRCm39) |
T521A |
probably damaging |
Het |
| Wrnip1 |
T |
A |
13: 32,986,739 (GRCm39) |
D173E |
probably damaging |
Het |
| Zfp317 |
G |
A |
9: 19,559,100 (GRCm39) |
G438D |
probably damaging |
Het |
| Zscan10 |
T |
A |
17: 23,826,164 (GRCm39) |
S109T |
possibly 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 |
|
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'- AGGCTGCTTTCAGGACATC -3'
(R):5'- TGCAGGTTGGATCCTTGACAG -3'
Sequencing Primer
(F):5'- AGGACATCTGTCTCTCCACTTGG -3'
(R):5'- GATCCTTGACAGGTTGTCCACAAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation