Incidental Mutation 'R7884:Sardh'
| ID |
608928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sardh
|
| Ensembl Gene |
ENSMUSG00000009614 |
| Gene Name |
sarcosine dehydrogenase |
| Synonyms |
|
| MMRRC Submission |
045936-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R7884 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27129383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 305
(I305T)
|
| 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: I305T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: I305T
| 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 |
probably benign
Transcript: ENSMUST00000129975
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139312
|
| SMART Domains |
Protein: ENSMUSP00000119866
Gene: ENSMUSG00000009614
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
69 |
197 |
9.3e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149733
|
| SMART Domains |
Protein: ENSMUSP00000120478
Gene: ENSMUSG00000009614
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
69 |
203 |
9.7e-30 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
T |
C |
16: 38,422,593 (GRCm39) |
T1158A |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,171,810 (GRCm39) |
E1530G |
possibly damaging |
Het |
| C3 |
A |
G |
17: 57,533,264 (GRCm39) |
F113S |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,011,418 (GRCm39) |
N2545S |
probably damaging |
Het |
| Ctsh |
A |
G |
9: 89,943,476 (GRCm39) |
D49G |
probably benign |
Het |
| Cyp7a1 |
T |
A |
4: 6,272,697 (GRCm39) |
Y172F |
probably benign |
Het |
| Ddx52 |
A |
G |
11: 83,842,911 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
A |
G |
18: 50,026,474 (GRCm39) |
T1861A |
possibly damaging |
Het |
| Dnah7c |
C |
T |
1: 46,830,929 (GRCm39) |
L3813F |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,307,307 (GRCm39) |
I68V |
probably damaging |
Het |
| Etnk2 |
T |
C |
1: 133,293,438 (GRCm39) |
V127A |
possibly damaging |
Het |
| Fank1 |
G |
C |
7: 133,478,554 (GRCm39) |
R206P |
probably damaging |
Het |
| Fbxl9 |
A |
G |
8: 106,042,165 (GRCm39) |
I221T |
probably benign |
Het |
| Fbxw27 |
G |
A |
9: 109,618,468 (GRCm39) |
R73* |
probably null |
Het |
| Fndc1 |
A |
T |
17: 7,992,029 (GRCm39) |
S556T |
unknown |
Het |
| Gnb3 |
T |
C |
6: 124,814,055 (GRCm39) |
T178A |
probably benign |
Het |
| H2bc12 |
T |
C |
13: 22,220,225 (GRCm39) |
S57P |
probably damaging |
Het |
| H2-M10.3 |
A |
T |
17: 36,677,174 (GRCm39) |
L326Q |
probably benign |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Itfg2 |
T |
C |
6: 128,393,344 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
G |
A |
14: 23,387,057 (GRCm39) |
P995L |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,076,430 (GRCm39) |
G1068D |
|
Het |
| Lats1 |
A |
T |
10: 7,573,290 (GRCm39) |
K125* |
probably null |
Het |
| Lipg |
C |
T |
18: 75,081,078 (GRCm39) |
M334I |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,518,909 (GRCm39) |
E1905V |
probably damaging |
Het |
| Lpin1 |
C |
T |
12: 16,612,370 (GRCm39) |
G544D |
|
Het |
| Lyst |
A |
T |
13: 13,882,268 (GRCm39) |
N2853I |
probably benign |
Het |
| Mars1 |
A |
G |
10: 127,136,114 (GRCm39) |
I525T |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,261,216 (GRCm39) |
D170E |
probably benign |
Het |
| Mrpl34 |
T |
C |
8: 71,917,911 (GRCm39) |
V28A |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,553,990 (GRCm39) |
V4101E |
unknown |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Myo1f |
A |
G |
17: 33,817,270 (GRCm39) |
Y771C |
probably damaging |
Het |
| Nr2f1 |
G |
A |
13: 78,337,988 (GRCm39) |
T376I |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,461,068 (GRCm39) |
T2535A |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,825,556 (GRCm39) |
T428S |
probably benign |
Het |
| Omd |
A |
G |
13: 49,743,630 (GRCm39) |
M227V |
probably damaging |
Het |
| Osbpl7 |
A |
C |
11: 96,951,283 (GRCm39) |
I657L |
possibly damaging |
Het |
| Pdgfrb |
T |
C |
18: 61,205,730 (GRCm39) |
V572A |
probably damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,445,624 (GRCm39) |
V537A |
probably benign |
Het |
| Pou2f2 |
T |
C |
7: 24,815,489 (GRCm39) |
M93V |
probably benign |
Het |
| Ppip5k2 |
T |
C |
1: 97,668,207 (GRCm39) |
T640A |
probably benign |
Het |
| Ptar1 |
C |
T |
19: 23,686,158 (GRCm39) |
P157S |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 78,973,933 (GRCm39) |
D1471V |
possibly damaging |
Het |
| Rgs7 |
A |
T |
1: 174,977,216 (GRCm39) |
|
probably null |
Het |
| Rhag |
A |
G |
17: 41,142,536 (GRCm39) |
Y247C |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,633,617 (GRCm39) |
I372T |
probably benign |
Het |
| Scn3a |
G |
T |
2: 65,366,859 (GRCm39) |
D54E |
probably damaging |
Het |
| Senp2 |
A |
G |
16: 21,832,981 (GRCm39) |
T90A |
probably benign |
Het |
| Serpinh1 |
C |
T |
7: 98,998,495 (GRCm39) |
R45H |
probably benign |
Het |
| Siglecg |
T |
C |
7: 43,058,703 (GRCm39) |
V152A |
probably benign |
Het |
| Sipa1l2 |
T |
A |
8: 126,174,337 (GRCm39) |
M1314L |
probably benign |
Het |
| Slc23a1 |
A |
G |
18: 35,759,002 (GRCm39) |
F63S |
possibly damaging |
Het |
| Slc25a40 |
T |
A |
5: 8,492,509 (GRCm39) |
L133Q |
probably damaging |
Het |
| Slc6a16 |
A |
G |
7: 44,908,771 (GRCm39) |
E117G |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,669,212 (GRCm39) |
S1245P |
possibly damaging |
Het |
| Tmem235 |
G |
A |
11: 117,755,033 (GRCm39) |
V162M |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,221,584 (GRCm39) |
T2774A |
probably benign |
Het |
| Trav10n |
A |
T |
14: 53,359,587 (GRCm39) |
H6L |
probably benign |
Het |
| Trav13d-3 |
G |
A |
14: 53,270,704 (GRCm39) |
W55* |
probably null |
Het |
| Zfp654 |
G |
T |
16: 64,672,011 (GRCm39) |
A2E |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
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 |
|
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'- TTCAAAGAGAAGCCAGGCC -3'
(R):5'- TCAGGTCCTACCCACAAAGG -3'
Sequencing Primer
(F):5'- CCTGGTGACCAAAGTAGCCTG -3'
(R):5'- AAGGACGCCTTTCTTGGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation