Incidental Mutation 'R5450:Sardh'
| ID |
429251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sardh
|
| Ensembl Gene |
ENSMUSG00000009614 |
| Gene Name |
sarcosine dehydrogenase |
| Synonyms |
|
| MMRRC Submission |
043015-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R5450 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
27078405-27138344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 27129710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 245
(T245K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102886]
[ENSMUST00000129975]
[ENSMUST00000139312]
[ENSMUST00000149733]
|
| AlphaFold |
Q99LB7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102886
AA Change: T245K
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099950
Gene: ENSMUSG00000009614
AA Change: T245K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170435
|
| Meta Mutation Damage Score |
0.1440 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (74/76) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Arhgef4 |
T |
G |
1: 34,846,405 (GRCm39) |
|
probably benign |
Het |
| Atg14 |
T |
C |
14: 47,788,921 (GRCm39) |
N144S |
probably benign |
Het |
| Cacna1h |
A |
T |
17: 25,602,160 (GRCm39) |
M1454K |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,412,327 (GRCm39) |
H138L |
possibly damaging |
Het |
| Cd200r2 |
T |
A |
16: 44,729,934 (GRCm39) |
D159E |
probably benign |
Het |
| Cd79a |
G |
T |
7: 24,598,687 (GRCm39) |
G79C |
probably damaging |
Het |
| Ceacam20 |
A |
G |
7: 19,712,133 (GRCm39) |
H38R |
possibly damaging |
Het |
| Cers1 |
T |
C |
8: 70,770,947 (GRCm39) |
L119P |
probably damaging |
Het |
| Ces1f |
C |
A |
8: 93,992,423 (GRCm39) |
V343L |
probably benign |
Het |
| Ces3a |
G |
A |
8: 105,784,550 (GRCm39) |
G511S |
possibly damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,175,079 (GRCm39) |
C98R |
probably benign |
Het |
| Cyp2j11 |
C |
A |
4: 96,228,113 (GRCm39) |
V169L |
probably benign |
Het |
| Cyp4f17 |
A |
G |
17: 32,747,860 (GRCm39) |
T523A |
probably benign |
Het |
| Ddx31 |
T |
C |
2: 28,776,981 (GRCm39) |
S567P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dsg1b |
A |
C |
18: 20,542,121 (GRCm39) |
H876P |
probably damaging |
Het |
| Edrf1 |
G |
T |
7: 133,260,339 (GRCm39) |
M83I |
probably damaging |
Het |
| Eno4 |
T |
C |
19: 58,948,679 (GRCm39) |
F393S |
possibly damaging |
Het |
| Eral1 |
C |
T |
11: 77,969,183 (GRCm39) |
D106N |
probably benign |
Het |
| Esp18 |
G |
T |
17: 39,719,070 (GRCm39) |
R23M |
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,697,143 (GRCm39) |
V674I |
probably benign |
Het |
| Fbxw13 |
A |
C |
9: 109,013,225 (GRCm39) |
N154K |
probably benign |
Het |
| Gtpbp6 |
A |
G |
5: 110,254,991 (GRCm39) |
V130A |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,903,050 (GRCm39) |
D1067G |
possibly damaging |
Het |
| Ighg1 |
A |
T |
12: 113,294,126 (GRCm39) |
S6T |
unknown |
Het |
| Ikzf3 |
C |
T |
11: 98,357,912 (GRCm39) |
R475H |
probably damaging |
Het |
| Itprid1 |
T |
A |
6: 55,945,796 (GRCm39) |
|
probably null |
Het |
| Kcmf1 |
A |
T |
6: 72,819,913 (GRCm39) |
L311* |
probably null |
Het |
| Kmt2d |
C |
A |
15: 98,752,967 (GRCm39) |
E184D |
probably damaging |
Het |
| Lrguk |
A |
T |
6: 34,047,996 (GRCm39) |
I314F |
probably damaging |
Het |
| Maml2 |
A |
C |
9: 13,617,763 (GRCm39) |
S370R |
probably damaging |
Het |
| Mroh1 |
C |
A |
15: 76,316,547 (GRCm39) |
|
probably benign |
Het |
| Mx1 |
A |
T |
16: 97,255,347 (GRCm39) |
Y235* |
probably null |
Het |
| Or4x6 |
A |
G |
2: 89,949,013 (GRCm39) |
*310Q |
probably null |
Het |
| Pamr1 |
T |
G |
2: 102,469,662 (GRCm39) |
Y403D |
probably damaging |
Het |
| Panx2 |
A |
G |
15: 88,953,162 (GRCm39) |
E551G |
possibly damaging |
Het |
| Patl2 |
A |
G |
2: 121,955,762 (GRCm39) |
V258A |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,074,041 (GRCm39) |
F255L |
probably benign |
Het |
| Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
| Psg18 |
T |
A |
7: 18,087,350 (GRCm39) |
I103F |
probably benign |
Het |
| Rpl39-ps |
A |
G |
15: 102,543,583 (GRCm39) |
|
noncoding transcript |
Het |
| Rps6kb1 |
A |
T |
11: 86,423,663 (GRCm39) |
F106I |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Shprh |
T |
G |
10: 11,088,074 (GRCm39) |
I1619S |
possibly damaging |
Het |
| Skint1 |
G |
A |
4: 111,882,729 (GRCm39) |
V258I |
probably benign |
Het |
| Slc27a5 |
T |
C |
7: 12,728,869 (GRCm39) |
D331G |
probably benign |
Het |
| Slc29a2 |
A |
G |
19: 5,079,303 (GRCm39) |
I309V |
probably benign |
Het |
| Slc30a5 |
C |
T |
13: 100,957,680 (GRCm39) |
V130I |
possibly damaging |
Het |
| Slc4a3 |
C |
A |
1: 75,529,300 (GRCm39) |
A531D |
probably damaging |
Het |
| Slc6a16 |
C |
T |
7: 44,910,672 (GRCm39) |
T399I |
probably benign |
Het |
| Slitrk6 |
T |
A |
14: 110,987,529 (GRCm39) |
H726L |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,784 (GRCm39) |
K309R |
probably damaging |
Het |
| Speer4f2 |
T |
A |
5: 17,578,217 (GRCm39) |
C4S |
possibly damaging |
Het |
| Sulf1 |
T |
C |
1: 12,867,131 (GRCm39) |
V105A |
probably benign |
Het |
| Tcstv7a |
A |
T |
13: 120,289,899 (GRCm39) |
V99E |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Vmn1r47 |
T |
C |
6: 89,999,195 (GRCm39) |
L109P |
probably damaging |
Het |
| Vmn1r73 |
C |
A |
7: 11,490,376 (GRCm39) |
Q65K |
possibly damaging |
Het |
| Vmn1r76 |
T |
C |
7: 11,664,611 (GRCm39) |
Y166C |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,034,011 (GRCm39) |
T504A |
probably benign |
Het |
| Wdr75 |
C |
A |
1: 45,851,324 (GRCm39) |
A300E |
probably benign |
Het |
| Yars1 |
A |
G |
4: 129,091,039 (GRCm39) |
E149G |
possibly damaging |
Het |
| Zbtb18 |
T |
C |
1: 177,274,771 (GRCm39) |
F35L |
probably damaging |
Het |
| Zfp366 |
A |
G |
13: 99,366,093 (GRCm39) |
Y418C |
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 |
|
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 |
|
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'- ACACTCCTGGAGGCAGAATG -3'
(R):5'- TTTCTCTGGCCAAATGAATCAGG -3'
Sequencing Primer
(F):5'- TGGAGAACACTCAGCTGCC -3'
(R):5'- GAAGAGTTCCTCACAGAAGCAGTATC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation