Incidental Mutation 'R9600:Sardh'
ID |
723646 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sardh
|
Ensembl Gene |
ENSMUSG00000009614 |
Gene Name |
sarcosine dehydrogenase |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R9600 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 27120513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 423
(Q423R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099950
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102886]
|
AlphaFold |
Q99LB7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102886
AA Change: Q423R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099950 Gene: ENSMUSG00000009614 AA Change: Q423R
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
A |
G |
11: 80,261,197 (GRCm39) |
V210A |
probably damaging |
Het |
Abcc9 |
G |
A |
6: 142,536,102 (GRCm39) |
A1544V |
possibly damaging |
Het |
Akap6 |
A |
G |
12: 52,933,341 (GRCm39) |
T278A |
probably benign |
Het |
Arfgef1 |
T |
A |
1: 10,233,977 (GRCm39) |
I1106F |
probably benign |
Het |
Armc7 |
T |
C |
11: 115,367,038 (GRCm39) |
L61S |
probably damaging |
Het |
Atp1a3 |
G |
A |
7: 24,700,027 (GRCm39) |
T111M |
probably benign |
Het |
Bltp1 |
A |
T |
3: 37,095,565 (GRCm39) |
K1103* |
probably null |
Het |
Cacna2d4 |
T |
A |
6: 119,322,023 (GRCm39) |
S962R |
probably benign |
Het |
Camsap2 |
T |
C |
1: 136,204,936 (GRCm39) |
T526A |
|
Het |
Casq2 |
A |
T |
3: 102,052,622 (GRCm39) |
D378V |
unknown |
Het |
Chst8 |
C |
T |
7: 34,374,646 (GRCm39) |
D398N |
possibly damaging |
Het |
Cmya5 |
C |
T |
13: 93,226,604 (GRCm39) |
G2828D |
probably damaging |
Het |
Cntnap2 |
T |
A |
6: 45,969,009 (GRCm39) |
N250K |
probably damaging |
Het |
Cpne5 |
T |
C |
17: 29,380,520 (GRCm39) |
N401D |
probably damaging |
Het |
Cse1l |
A |
G |
2: 166,757,119 (GRCm39) |
N7S |
probably damaging |
Het |
Cyp4f39 |
G |
A |
17: 32,705,920 (GRCm39) |
G337D |
probably damaging |
Het |
Dera |
C |
T |
6: 137,814,135 (GRCm39) |
R308C |
probably benign |
Het |
Drd5 |
T |
A |
5: 38,478,174 (GRCm39) |
I389N |
possibly damaging |
Het |
F830016B08Rik |
A |
G |
18: 60,433,237 (GRCm39) |
T107A |
probably damaging |
Het |
Fbxw22 |
C |
A |
9: 109,212,986 (GRCm39) |
L320F |
probably damaging |
Het |
Fndc3b |
G |
T |
3: 27,552,941 (GRCm39) |
T352K |
probably damaging |
Het |
Gm36864 |
T |
A |
7: 43,886,275 (GRCm39) |
I169K |
unknown |
Het |
Hdac4 |
A |
T |
1: 91,889,277 (GRCm39) |
D749E |
probably damaging |
Het |
Herc1 |
C |
T |
9: 66,304,594 (GRCm39) |
A805V |
possibly damaging |
Het |
Hrh1 |
A |
G |
6: 114,457,453 (GRCm39) |
K245E |
probably benign |
Het |
Khdc1a |
A |
G |
1: 21,421,204 (GRCm39) |
T130A |
probably benign |
Het |
Lrp5 |
C |
G |
19: 3,641,712 (GRCm39) |
A1417P |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,365,002 (GRCm39) |
Q3253R |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,684,723 (GRCm39) |
L811* |
probably null |
Het |
Mettl8 |
T |
C |
2: 70,812,383 (GRCm39) |
D84G |
possibly damaging |
Het |
Miga1 |
T |
G |
3: 151,993,186 (GRCm39) |
T412P |
probably benign |
Het |
Mtor |
G |
T |
4: 148,632,092 (GRCm39) |
R2322L |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,567,147 (GRCm39) |
N1791D |
unknown |
Het |
Myo9b |
C |
G |
8: 71,743,075 (GRCm39) |
S45R |
possibly damaging |
Het |
Nup50l |
A |
T |
6: 96,142,156 (GRCm39) |
L296Q |
possibly damaging |
Het |
Olfm4 |
T |
C |
14: 80,243,747 (GRCm39) |
F105S |
probably damaging |
Het |
Or5af2 |
A |
T |
11: 58,708,370 (GRCm39) |
I179F |
possibly damaging |
Het |
Osbpl1a |
T |
C |
18: 13,015,277 (GRCm39) |
I384V |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 82,030,435 (GRCm39) |
L1131P |
|
Het |
Pex6 |
T |
A |
17: 47,035,322 (GRCm39) |
V827E |
probably damaging |
Het |
Plek |
A |
C |
11: 16,940,119 (GRCm39) |
S197A |
probably benign |
Het |
Pmpca |
T |
C |
2: 26,282,598 (GRCm39) |
Y269H |
probably benign |
Het |
Pop1 |
T |
C |
15: 34,512,881 (GRCm39) |
I493T |
probably benign |
Het |
Rap1gap2 |
T |
C |
11: 74,283,954 (GRCm39) |
N615D |
probably benign |
Het |
Rtp3 |
T |
C |
9: 110,815,198 (GRCm39) |
Y389C |
unknown |
Het |
Rusf1 |
T |
A |
7: 127,875,676 (GRCm39) |
D253V |
possibly damaging |
Het |
Slc11a1 |
T |
C |
1: 74,422,688 (GRCm39) |
|
probably null |
Het |
Slc5a4b |
T |
C |
10: 75,896,239 (GRCm39) |
D572G |
probably damaging |
Het |
Slco1a8 |
T |
G |
6: 141,949,234 (GRCm39) |
|
probably null |
Het |
Slfn14 |
A |
G |
11: 83,170,048 (GRCm39) |
V532A |
probably benign |
Het |
Spmip10 |
T |
C |
18: 56,725,450 (GRCm39) |
W37R |
probably benign |
Het |
Stxbp1 |
T |
C |
2: 32,701,120 (GRCm39) |
Y264C |
possibly damaging |
Het |
Syce1l |
T |
C |
8: 114,381,750 (GRCm39) |
I230T |
unknown |
Het |
Taf5l |
T |
C |
8: 124,730,173 (GRCm39) |
Y172C |
|
Het |
Trpc4 |
A |
T |
3: 54,102,248 (GRCm39) |
K49* |
probably null |
Het |
Ttc13 |
A |
G |
8: 125,415,284 (GRCm39) |
V285A |
probably benign |
Het |
Ttc17 |
A |
T |
2: 94,204,890 (GRCm39) |
L344Q |
probably damaging |
Het |
Unc79 |
A |
G |
12: 103,135,972 (GRCm39) |
H2469R |
probably benign |
Het |
Xkr7 |
A |
G |
2: 152,896,393 (GRCm39) |
I416V |
probably benign |
Het |
Zeb2 |
C |
A |
2: 44,987,180 (GRCm39) |
D35Y |
unknown |
Het |
Zfp28 |
A |
G |
7: 6,397,917 (GRCm39) |
H784R |
probably benign |
Het |
Zfp644 |
A |
C |
5: 106,783,909 (GRCm39) |
S848R |
probably benign |
Het |
Zfp809 |
G |
A |
9: 22,150,384 (GRCm39) |
E294K |
possibly damaging |
Het |
Zfp820 |
A |
G |
17: 22,038,861 (GRCm39) |
Y156H |
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 |
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 |
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'- TGCCTCCACTTCCAAGAGATC -3'
(R):5'- CCCCATGGTATAGAGATTGGGG -3'
Sequencing Primer
(F):5'- ATCATCTGGGTCTCAAGGAAGGTTC -3'
(R):5'- ATAGAGATTGGGGGTGGGGC -3'
|
Posted On |
2022-09-12 |