Incidental Mutation 'R6981:Tecrl'
| ID |
542665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tecrl
|
| Ensembl Gene |
ENSMUSG00000049537 |
| Gene Name |
trans-2,3-enoyl-CoA reductase-like |
| Synonyms |
Srd5a2l2, D330017N19Rik |
| MMRRC Submission |
045089-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
83425992-83503042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83502768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 12
(N12S)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053543]
|
| AlphaFold |
Q8BFZ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053543
AA Change: N27S
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000062122
Gene: ENSMUSG00000049537
AA Change: N27S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2DZJ|A
|
53 |
135 |
1e-17 |
PDB |
|
Blast:UBQ
|
59 |
135 |
2e-7 |
BLAST |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
Pfam:Steroid_dh
|
208 |
361 |
3.8e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146669
AA Change: N12S
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115144
Gene: ENSMUSG00000049537
AA Change: N12S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2DZJ|A
|
39 |
93 |
1e-11 |
PDB |
|
transmembrane domain
|
100 |
122 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
G |
A |
11: 58,184,544 (GRCm39) |
|
probably benign |
Het |
| 5031439G07Rik |
A |
C |
15: 84,833,798 (GRCm39) |
Y419* |
probably null |
Het |
| Abca2 |
T |
A |
2: 25,334,151 (GRCm39) |
F1809L |
probably damaging |
Het |
| Ache |
C |
T |
5: 137,289,940 (GRCm39) |
T423I |
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,036,226 (GRCm39) |
T395A |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,127,741 (GRCm39) |
I145T |
probably damaging |
Het |
| Arhgef4 |
A |
C |
1: 34,761,533 (GRCm39) |
Q263P |
unknown |
Het |
| Asgr2 |
C |
T |
11: 69,987,636 (GRCm39) |
L45F |
probably damaging |
Het |
| Baiap2l1 |
T |
A |
5: 144,222,389 (GRCm39) |
Y122F |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Car8 |
A |
T |
4: 8,185,650 (GRCm39) |
|
probably null |
Het |
| Carns1 |
T |
C |
19: 4,220,081 (GRCm39) |
T385A |
probably benign |
Het |
| Ccdc47 |
T |
C |
11: 106,093,563 (GRCm39) |
T41A |
probably benign |
Het |
| Ccne1 |
A |
T |
7: 37,797,998 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
C |
T |
2: 179,439,297 (GRCm39) |
T148I |
probably benign |
Het |
| Cep85 |
C |
T |
4: 133,879,572 (GRCm39) |
R392Q |
probably damaging |
Het |
| Ces1h |
T |
C |
8: 94,080,123 (GRCm39) |
T464A |
unknown |
Het |
| Cfl1 |
T |
A |
19: 5,542,644 (GRCm39) |
S41R |
possibly damaging |
Het |
| Crnn |
T |
C |
3: 93,055,442 (GRCm39) |
V76A |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,794,385 (GRCm39) |
T707A |
probably benign |
Het |
| Dgkh |
A |
T |
14: 78,865,182 (GRCm39) |
C53* |
probably null |
Het |
| Dhx34 |
G |
T |
7: 15,949,255 (GRCm39) |
A391E |
possibly damaging |
Het |
| Dlx1 |
C |
A |
2: 71,362,697 (GRCm39) |
N201K |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 72,998,161 (GRCm39) |
E4087G |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,756,846 (GRCm39) |
Y134C |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,121,708 (GRCm39) |
V662A |
possibly damaging |
Het |
| Dusp12 |
A |
G |
1: 170,708,530 (GRCm39) |
F12L |
probably damaging |
Het |
| Eppk1 |
T |
C |
15: 75,995,237 (GRCm39) |
E548G |
probably benign |
Het |
| Foxj2 |
A |
G |
6: 122,819,798 (GRCm39) |
D562G |
probably benign |
Het |
| Foxj2 |
A |
G |
6: 122,805,403 (GRCm39) |
I92V |
probably damaging |
Het |
| Gm17728 |
A |
G |
17: 9,640,991 (GRCm39) |
R34G |
probably damaging |
Het |
| Gpc6 |
T |
C |
14: 117,861,960 (GRCm39) |
I292T |
probably damaging |
Het |
| Gpr15 |
T |
A |
16: 58,538,548 (GRCm39) |
K180N |
probably benign |
Het |
| Gtf2ird1 |
G |
T |
5: 134,412,776 (GRCm39) |
|
probably benign |
Het |
| H2ac12 |
A |
G |
13: 22,219,719 (GRCm39) |
S2P |
probably benign |
Het |
| Hps3 |
T |
A |
3: 20,076,984 (GRCm39) |
T393S |
probably damaging |
Het |
| Hspa1a |
A |
T |
17: 35,189,267 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,257,704 (GRCm39) |
E2378G |
possibly damaging |
Het |
| Ighv1-18 |
A |
G |
12: 114,646,298 (GRCm39) |
L102P |
probably damaging |
Het |
| Itga5 |
T |
A |
15: 103,258,653 (GRCm39) |
N814I |
probably benign |
Het |
| Kcnb2 |
T |
C |
1: 15,780,480 (GRCm39) |
S451P |
probably damaging |
Het |
| Klhl32 |
T |
G |
4: 24,709,030 (GRCm39) |
I112L |
probably damaging |
Het |
| Knstrn |
T |
G |
2: 118,664,575 (GRCm39) |
I47R |
possibly damaging |
Het |
| Med23 |
T |
A |
10: 24,771,722 (GRCm39) |
S581T |
possibly damaging |
Het |
| Mgat5 |
C |
T |
1: 127,318,588 (GRCm39) |
T361I |
probably damaging |
Het |
| Nipal3 |
A |
G |
4: 135,206,858 (GRCm39) |
V112A |
probably damaging |
Het |
| Or10a5 |
T |
A |
7: 106,635,956 (GRCm39) |
V198D |
possibly damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,243 (GRCm39) |
E24G |
probably benign |
Het |
| Or4k41 |
T |
C |
2: 111,279,697 (GRCm39) |
F71L |
probably benign |
Het |
| Or5g27 |
A |
G |
2: 85,409,825 (GRCm39) |
M81V |
probably benign |
Het |
| Paxip1 |
G |
A |
5: 27,970,766 (GRCm39) |
Q528* |
probably null |
Het |
| Proser2 |
T |
C |
2: 6,118,801 (GRCm39) |
D14G |
probably damaging |
Het |
| Rp1 |
T |
G |
1: 4,415,878 (GRCm39) |
I1745L |
probably benign |
Het |
| Rxfp2 |
G |
T |
5: 149,972,313 (GRCm39) |
|
probably null |
Het |
| Slc45a1 |
T |
C |
4: 150,723,051 (GRCm39) |
S278G |
possibly damaging |
Het |
| Smurf1 |
A |
G |
5: 144,823,179 (GRCm39) |
I455T |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,407,557 (GRCm39) |
L3188P |
probably damaging |
Het |
| Tcaf3 |
G |
T |
6: 42,574,059 (GRCm39) |
A51D |
probably damaging |
Het |
| Tmem17 |
T |
A |
11: 22,468,508 (GRCm39) |
I149N |
possibly damaging |
Het |
| Tmem171 |
A |
G |
13: 98,828,976 (GRCm39) |
V58A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,691,521 (GRCm39) |
|
probably benign |
Het |
| Ubqln5 |
A |
G |
7: 103,777,808 (GRCm39) |
S339P |
probably benign |
Het |
| Vmn1r16 |
T |
A |
6: 57,300,473 (GRCm39) |
I50L |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,739 (GRCm39) |
Y177F |
probably benign |
Het |
| Zfp28 |
C |
A |
7: 6,397,692 (GRCm39) |
T709K |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,676,170 (GRCm39) |
N46S |
probably benign |
Het |
| Zyx |
T |
A |
6: 42,327,291 (GRCm39) |
V30E |
unknown |
Het |
|
| Other mutations in Tecrl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01981:Tecrl
|
APN |
5 |
83,442,453 (GRCm39) |
missense |
probably benign |
|
|
IGL02067:Tecrl
|
APN |
5 |
83,432,122 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02111:Tecrl
|
APN |
5 |
83,502,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02391:Tecrl
|
APN |
5 |
83,502,674 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02860:Tecrl
|
APN |
5 |
83,502,844 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03079:Tecrl
|
APN |
5 |
83,442,447 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03109:Tecrl
|
APN |
5 |
83,457,156 (GRCm39) |
intron |
probably benign |
|
|
gaudenz
|
UTSW |
5 |
83,457,049 (GRCm39) |
critical splice donor site |
probably null |
|
|
Whoopie
|
UTSW |
5 |
83,442,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB004:Tecrl
|
UTSW |
5 |
83,502,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB014:Tecrl
|
UTSW |
5 |
83,502,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0095:Tecrl
|
UTSW |
5 |
83,442,417 (GRCm39) |
splice site |
probably benign |
|
|
R0347:Tecrl
|
UTSW |
5 |
83,442,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0372:Tecrl
|
UTSW |
5 |
83,442,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Tecrl
|
UTSW |
5 |
83,502,605 (GRCm39) |
splice site |
probably benign |
|
|
R0426:Tecrl
|
UTSW |
5 |
83,502,610 (GRCm39) |
splice site |
probably benign |
|
|
R0597:Tecrl
|
UTSW |
5 |
83,502,775 (GRCm39) |
nonsense |
probably null |
|
|
R1607:Tecrl
|
UTSW |
5 |
83,428,355 (GRCm39) |
splice site |
probably null |
|
|
R1771:Tecrl
|
UTSW |
5 |
83,439,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Tecrl
|
UTSW |
5 |
83,427,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1815:Tecrl
|
UTSW |
5 |
83,427,081 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1869:Tecrl
|
UTSW |
5 |
83,502,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1870:Tecrl
|
UTSW |
5 |
83,502,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4296:Tecrl
|
UTSW |
5 |
83,461,174 (GRCm39) |
nonsense |
probably null |
|
|
R4471:Tecrl
|
UTSW |
5 |
83,461,134 (GRCm39) |
missense |
probably benign |
|
|
R6281:Tecrl
|
UTSW |
5 |
83,442,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6343:Tecrl
|
UTSW |
5 |
83,442,447 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6866:Tecrl
|
UTSW |
5 |
83,461,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6948:Tecrl
|
UTSW |
5 |
83,457,097 (GRCm39) |
missense |
probably benign |
|
|
R6971:Tecrl
|
UTSW |
5 |
83,502,649 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7246:Tecrl
|
UTSW |
5 |
83,427,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7282:Tecrl
|
UTSW |
5 |
83,502,754 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7444:Tecrl
|
UTSW |
5 |
83,502,915 (GRCm39) |
unclassified |
probably benign |
|
|
R7900:Tecrl
|
UTSW |
5 |
83,427,188 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7927:Tecrl
|
UTSW |
5 |
83,502,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8246:Tecrl
|
UTSW |
5 |
83,427,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8360:Tecrl
|
UTSW |
5 |
83,448,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8466:Tecrl
|
UTSW |
5 |
83,428,367 (GRCm39) |
nonsense |
probably null |
|
|
R8947:Tecrl
|
UTSW |
5 |
83,461,154 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8949:Tecrl
|
UTSW |
5 |
83,461,154 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9009:Tecrl
|
UTSW |
5 |
83,432,121 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9115:Tecrl
|
UTSW |
5 |
83,427,906 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9182:Tecrl
|
UTSW |
5 |
83,457,049 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9320:Tecrl
|
UTSW |
5 |
83,428,422 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
X0019:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0024:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0034:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0035:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0036:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0037:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0038:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0039:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0040:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0052:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0053:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0054:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0058:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0060:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0061:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0062:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0063:Tecrl
|
UTSW |
5 |
83,486,099 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACTTCTTCACTCAAGAACTAAG -3'
(R):5'- TAGACCGCTGGAATGGCATG -3'
Sequencing Primer
(F):5'- TCTTCACTCAAGAACTAAGTTTGATG -3'
(R):5'- ATGCCACTTGACCTCCAGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation