Incidental Mutation 'R9539:Sardh'
| ID |
719792 |
| 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: 0.100)
|
| Stock # |
R9539 (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 A
at 27134298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 73
(I73F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102886]
[ENSMUST00000129975]
[ENSMUST00000139312]
[ENSMUST00000149733]
|
| AlphaFold |
Q99LB7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102886
AA Change: I73F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: I73F
| 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 |
silent
Transcript: ENSMUST00000129975
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139312
AA Change: I73F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119866
Gene: ENSMUSG00000009614
AA Change: I73F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
69 |
197 |
9.3e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149733
AA Change: I73F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120478
Gene: ENSMUSG00000009614
AA Change: I73F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
69 |
203 |
9.7e-30 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah1 |
G |
A |
8: 41,827,584 (GRCm39) |
A13V |
probably benign |
Het |
| Bdh1 |
A |
G |
16: 31,273,914 (GRCm39) |
T160A |
probably benign |
Het |
| Ccdc115 |
C |
T |
1: 34,477,930 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
T |
A |
10: 41,463,407 (GRCm39) |
E1445V |
possibly damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,901,993 (GRCm39) |
E1215G |
possibly damaging |
Het |
| Cep290 |
A |
T |
10: 100,404,713 (GRCm39) |
E2358D |
probably damaging |
Het |
| Cog6 |
A |
G |
3: 52,914,722 (GRCm39) |
S245P |
probably benign |
Het |
| Copb2 |
A |
T |
9: 98,467,983 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
T |
A |
8: 70,892,115 (GRCm39) |
M32L |
probably benign |
Het |
| Dagla |
A |
C |
19: 10,228,429 (GRCm39) |
|
probably null |
Het |
| Dph5 |
C |
A |
3: 115,722,305 (GRCm39) |
P261Q |
probably damaging |
Het |
| Gpr137c |
T |
C |
14: 45,516,187 (GRCm39) |
V307A |
probably damaging |
Het |
| Herpud2 |
A |
G |
9: 25,041,936 (GRCm39) |
Y79H |
probably damaging |
Het |
| Ighg2b |
C |
T |
12: 113,270,498 (GRCm39) |
V211I |
|
Het |
| Meioc |
C |
T |
11: 102,565,506 (GRCm39) |
T318M |
probably damaging |
Het |
| Mterf4 |
T |
C |
1: 93,229,188 (GRCm39) |
Y275C |
unknown |
Het |
| Mtfr1 |
T |
C |
3: 19,271,422 (GRCm39) |
V198A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,415,322 (GRCm39) |
I138F |
probably damaging |
Het |
| Pacc1 |
C |
T |
1: 191,077,174 (GRCm39) |
Q166* |
probably null |
Het |
| Pf4 |
T |
A |
5: 90,920,891 (GRCm39) |
V73D |
possibly damaging |
Het |
| Phldb1 |
T |
C |
9: 44,627,482 (GRCm39) |
E321G |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,691,427 (GRCm39) |
S59G |
probably null |
Het |
| Pmfbp1 |
A |
G |
8: 110,240,537 (GRCm39) |
I206M |
probably damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,174,658 (GRCm39) |
V50A |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,725,715 (GRCm39) |
H1496R |
probably benign |
Het |
| Serpind1 |
G |
A |
16: 17,157,638 (GRCm39) |
W278* |
probably null |
Het |
| Slit3 |
C |
T |
11: 35,589,155 (GRCm39) |
Q1237* |
probably null |
Het |
| Smg1 |
T |
C |
7: 117,744,976 (GRCm39) |
I3059V |
probably benign |
Het |
| Spart |
T |
A |
3: 55,034,924 (GRCm39) |
W437R |
probably damaging |
Het |
| Spata6 |
C |
G |
4: 111,685,526 (GRCm39) |
A477G |
possibly damaging |
Het |
| Suox |
A |
G |
10: 128,507,383 (GRCm39) |
F215S |
probably damaging |
Het |
| Tcaf1 |
T |
C |
6: 42,655,683 (GRCm39) |
N431S |
probably benign |
Het |
| Tgfbr3l |
G |
A |
8: 4,299,679 (GRCm39) |
R154H |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,494,457 (GRCm39) |
K766R |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,984,105 (GRCm39) |
K255* |
probably null |
Het |
| Tmem67 |
A |
T |
4: 12,045,814 (GRCm39) |
L881H |
probably damaging |
Het |
| Tmem67 |
G |
T |
4: 12,045,815 (GRCm39) |
L881I |
probably damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,760,544 (GRCm39) |
S84G |
probably damaging |
Het |
| Traf7 |
C |
T |
17: 24,729,333 (GRCm39) |
V465M |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,618,568 (GRCm39) |
V16239I |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,609,163 (GRCm39) |
|
probably null |
Het |
| Zc3h11a |
T |
C |
1: 133,554,927 (GRCm39) |
E351G |
probably benign |
Het |
| Zfp942 |
T |
A |
17: 22,148,014 (GRCm39) |
H205L |
probably 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 |
|
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 |
|
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'- GAGAATGAAGTCTGGCTGGC -3'
(R):5'- GAGAGCTGCTTGGAATCTGG -3'
Sequencing Primer
(F):5'- AATGAAGTCTGGCTGGCCTTCC -3'
(R):5'- TTGGAATCTGGGGCTACAACC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation