Incidental Mutation 'R9337:Sardh'
| ID |
707211 |
| 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 # |
R9337 (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 27086678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 827
(I827M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102886]
|
| AlphaFold |
Q99LB7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102886
AA Change: I827M
PolyPhen 2
Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: I827M
| 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: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (65/65) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Adad1 |
T |
C |
3: 37,139,247 (GRCm39) |
V439A |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,989,824 (GRCm39) |
|
probably benign |
Het |
| Arhgef10l |
G |
A |
4: 140,338,624 (GRCm39) |
T46I |
probably damaging |
Het |
| C3ar1 |
A |
G |
6: 122,827,278 (GRCm39) |
V313A |
probably benign |
Het |
| Capn13 |
T |
A |
17: 73,633,467 (GRCm39) |
|
probably null |
Het |
| Ccdc30 |
T |
A |
4: 119,190,920 (GRCm39) |
|
probably null |
Het |
| Ccdc7a |
T |
C |
8: 129,616,319 (GRCm39) |
Q928R |
probably benign |
Het |
| Cept1 |
A |
G |
3: 106,412,575 (GRCm39) |
L299S |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,775,898 (GRCm39) |
L218P |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,468,448 (GRCm39) |
I1460M |
probably damaging |
Het |
| Col4a2 |
T |
C |
8: 11,479,346 (GRCm39) |
L743P |
probably benign |
Het |
| Cop1 |
T |
C |
1: 159,072,221 (GRCm39) |
V179A |
probably benign |
Het |
| Cpvl |
A |
G |
6: 53,909,479 (GRCm39) |
I219T |
probably damaging |
Het |
| Cyc1 |
T |
C |
15: 76,228,506 (GRCm39) |
V45A |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,369,806 (GRCm39) |
N4410K |
probably benign |
Het |
| Dok4 |
T |
A |
8: 95,593,469 (GRCm39) |
T106S |
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,665,588 (GRCm39) |
F842L |
probably damaging |
Het |
| Fam24b |
T |
A |
7: 130,927,949 (GRCm39) |
Y80F |
probably benign |
Het |
| Fbn2 |
G |
A |
18: 58,342,723 (GRCm39) |
A52V |
probably benign |
Het |
| Gal3st3 |
A |
T |
19: 5,356,868 (GRCm39) |
N81I |
probably damaging |
Het |
| Gm13283 |
T |
A |
4: 88,679,036 (GRCm39) |
V9E |
possibly damaging |
Het |
| Gm17026 |
A |
G |
14: 42,080,873 (GRCm39) |
S58P |
|
Het |
| Grm8 |
A |
T |
6: 27,761,214 (GRCm39) |
S337T |
probably benign |
Het |
| Hdac5 |
G |
A |
11: 102,096,178 (GRCm39) |
P332S |
probably damaging |
Het |
| Hr |
A |
T |
14: 70,797,324 (GRCm39) |
E519V |
probably benign |
Het |
| Hspbap1 |
A |
G |
16: 35,645,395 (GRCm39) |
H360R |
probably benign |
Het |
| Iqgap3 |
T |
G |
3: 88,023,425 (GRCm39) |
|
probably null |
Het |
| Krtap5-3 |
T |
A |
7: 141,756,267 (GRCm39) |
H175Q |
unknown |
Het |
| Lrrn4 |
A |
T |
2: 132,712,552 (GRCm39) |
S424T |
probably benign |
Het |
| Lsm10 |
C |
A |
4: 125,991,660 (GRCm39) |
H5Q |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,394,252 (GRCm39) |
K459* |
probably null |
Het |
| Myo15b |
A |
C |
11: 115,749,861 (GRCm39) |
K210N |
|
Het |
| Or12e7 |
T |
A |
2: 87,287,527 (GRCm39) |
I6N |
probably benign |
Het |
| Or8k38 |
T |
C |
2: 86,488,476 (GRCm39) |
T109A |
probably benign |
Het |
| Park7 |
A |
T |
4: 150,991,553 (GRCm39) |
C46S |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,943,844 (GRCm39) |
F653S |
probably damaging |
Het |
| Plekha1 |
T |
A |
7: 130,511,348 (GRCm39) |
C311S |
possibly damaging |
Het |
| Pprc1 |
T |
A |
19: 46,052,198 (GRCm39) |
M576K |
unknown |
Het |
| Prelid3b |
G |
A |
2: 174,310,161 (GRCm39) |
T74M |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,327,116 (GRCm39) |
Y311C |
probably damaging |
Het |
| Prom2 |
A |
C |
2: 127,371,094 (GRCm39) |
V801G |
probably damaging |
Het |
| Psmd9 |
T |
A |
5: 123,386,387 (GRCm39) |
V44D |
probably damaging |
Het |
| Ptpn3 |
C |
G |
4: 57,218,521 (GRCm39) |
L647F |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,270,238 (GRCm39) |
D1286G |
probably damaging |
Het |
| Rcc2 |
T |
C |
4: 140,445,689 (GRCm39) |
I449T |
probably damaging |
Het |
| Rev3l |
A |
T |
10: 39,698,850 (GRCm39) |
S1116C |
probably benign |
Het |
| Rnf212 |
A |
T |
5: 108,922,755 (GRCm39) |
S32T |
possibly damaging |
Het |
| Rnf40 |
T |
A |
7: 127,188,172 (GRCm39) |
S2T |
probably benign |
Het |
| Rrp8 |
T |
C |
7: 105,383,384 (GRCm39) |
D294G |
probably damaging |
Het |
| Rtf2 |
A |
T |
2: 172,308,205 (GRCm39) |
K201N |
probably damaging |
Het |
| Runx3 |
A |
G |
4: 134,890,574 (GRCm39) |
T173A |
probably damaging |
Het |
| Sec22b |
T |
C |
3: 97,828,494 (GRCm39) |
Y186H |
probably benign |
Het |
| Serpina5 |
C |
T |
12: 104,071,542 (GRCm39) |
T383I |
possibly damaging |
Het |
| Slc12a2 |
A |
G |
18: 58,063,238 (GRCm39) |
D906G |
probably damaging |
Het |
| Socs1 |
T |
C |
16: 10,602,578 (GRCm39) |
D53G |
possibly damaging |
Het |
| Stat1 |
G |
T |
1: 52,191,429 (GRCm39) |
A595S |
probably benign |
Het |
| Stat3 |
A |
T |
11: 100,798,815 (GRCm39) |
|
probably null |
Het |
| Styxl1 |
T |
C |
5: 135,794,592 (GRCm39) |
S82G |
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,597,121 (GRCm39) |
D353E |
possibly damaging |
Het |
| Tbce |
T |
C |
13: 14,194,398 (GRCm39) |
K87R |
probably benign |
Het |
| Thada |
T |
C |
17: 84,749,205 (GRCm39) |
M589V |
probably benign |
Het |
| Them5 |
A |
G |
3: 94,254,048 (GRCm39) |
M257V |
unknown |
Het |
| Tln1 |
A |
T |
4: 43,532,927 (GRCm39) |
I2425N |
probably damaging |
Het |
| Tuba8 |
A |
G |
6: 121,202,823 (GRCm39) |
S379G |
probably damaging |
Het |
| Vrk1 |
T |
C |
12: 106,024,957 (GRCm39) |
|
probably null |
Het |
| Zbtb34 |
T |
C |
2: 33,301,716 (GRCm39) |
Y275C |
probably damaging |
Het |
| Zcwpw1 |
T |
C |
5: 137,799,274 (GRCm39) |
C214R |
probably benign |
Het |
| Zeb2 |
A |
G |
2: 44,912,912 (GRCm39) |
V137A |
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 |
|
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'- CACTCGACCCTTACAGGATCTG -3'
(R):5'- GGACACTCACCTCTAGCTTC -3'
Sequencing Primer
(F):5'- GACCCTTACAGGATCTGCATTTG -3'
(R):5'- CTAGCTTCCTTGTCCCGTAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation