Incidental Mutation 'R0847:Tmprss11g'
| ID |
77009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss11g
|
| Ensembl Gene |
ENSMUSG00000079451 |
| Gene Name |
transmembrane protease, serine 11g |
| Synonyms |
Desc4, 9930032O22Rik |
| MMRRC Submission |
039026-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R0847 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
86633736-86666459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86638585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 301
(K301R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134179]
[ENSMUST00000140095]
|
| AlphaFold |
Q8BZ10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134179
AA Change: K314R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000122709
Gene: ENSMUSG00000079451
AA Change: K314R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:SEA
|
48 |
150 |
1.5e-25 |
PFAM |
|
Tryp_SPc
|
185 |
411 |
1.39e-82 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140095
AA Change: K301R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000115540
Gene: ENSMUSG00000079451
AA Change: K301R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:SEA
|
45 |
154 |
1.3e-19 |
PFAM |
|
Tryp_SPc
|
172 |
398 |
1.39e-82 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199703
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,895,764 (GRCm39) |
I899T |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,983,797 (GRCm39) |
Q1694* |
probably null |
Het |
| Cblc |
A |
T |
7: 19,524,459 (GRCm39) |
Y260* |
probably null |
Het |
| Ccn4 |
T |
G |
15: 66,791,124 (GRCm39) |
C309G |
probably damaging |
Het |
| Ceacam5 |
A |
G |
7: 17,491,762 (GRCm39) |
T711A |
possibly damaging |
Het |
| Cep63 |
A |
G |
9: 102,465,957 (GRCm39) |
S690P |
probably benign |
Het |
| Chia1 |
A |
T |
3: 106,039,253 (GRCm39) |
I448F |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,313,112 (GRCm39) |
F1712I |
probably damaging |
Het |
| Ecpas |
G |
A |
4: 58,841,439 (GRCm39) |
T645I |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,695 (GRCm39) |
V109A |
probably damaging |
Het |
| Fxyd7 |
A |
G |
7: 30,744,029 (GRCm39) |
C60R |
probably damaging |
Het |
| Gm17349 |
C |
A |
15: 99,600,289 (GRCm39) |
|
probably benign |
Het |
| Gpn2 |
A |
G |
4: 133,315,906 (GRCm39) |
N199D |
probably benign |
Het |
| Ints12 |
C |
T |
3: 132,814,603 (GRCm39) |
T270M |
possibly damaging |
Het |
| Kdm4a |
C |
T |
4: 118,021,695 (GRCm39) |
E266K |
probably damaging |
Het |
| Kremen2 |
G |
T |
17: 23,963,634 (GRCm39) |
T50N |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,293,159 (GRCm39) |
D1249E |
probably benign |
Het |
| Mdga2 |
T |
A |
12: 66,769,854 (GRCm39) |
K146N |
probably damaging |
Het |
| Med20 |
G |
A |
17: 47,922,618 (GRCm39) |
|
probably null |
Het |
| Myo18b |
T |
C |
5: 113,022,354 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,739,718 (GRCm39) |
T84S |
possibly damaging |
Het |
| Olfm2 |
A |
G |
9: 20,579,953 (GRCm39) |
V266A |
probably damaging |
Het |
| Or5b101 |
A |
T |
19: 13,005,095 (GRCm39) |
Y199* |
probably null |
Het |
| Or5b123 |
C |
T |
19: 13,596,915 (GRCm39) |
H87Y |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,627,327 (GRCm39) |
I44F |
probably damaging |
Het |
| Pthlh |
A |
T |
6: 147,164,766 (GRCm39) |
|
probably null |
Het |
| Rpap3 |
C |
T |
15: 97,601,082 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
A |
G |
3: 95,672,725 (GRCm39) |
S893P |
probably benign |
Het |
| Sacm1l |
G |
A |
9: 123,377,927 (GRCm39) |
G69D |
probably damaging |
Het |
| Slc27a4 |
T |
C |
2: 29,701,261 (GRCm39) |
S351P |
probably benign |
Het |
| Sobp |
C |
G |
10: 42,898,415 (GRCm39) |
R390P |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,614,689 (GRCm39) |
M107K |
possibly damaging |
Het |
| Sri |
G |
A |
5: 8,113,755 (GRCm39) |
|
probably null |
Het |
| Stab2 |
T |
C |
10: 86,805,735 (GRCm39) |
I204V |
probably benign |
Het |
| Synm |
T |
C |
7: 67,384,804 (GRCm39) |
I511V |
probably damaging |
Het |
| Tbr1 |
T |
C |
2: 61,635,373 (GRCm39) |
S108P |
probably benign |
Het |
| Tln1 |
A |
G |
4: 43,555,333 (GRCm39) |
F197S |
probably damaging |
Het |
| Tmem167b |
C |
T |
3: 108,467,537 (GRCm39) |
G46R |
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,765,122 (GRCm39) |
V960M |
possibly damaging |
Het |
| Ube3a |
G |
A |
7: 58,926,334 (GRCm39) |
D371N |
possibly damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,078,225 (GRCm39) |
F78I |
probably benign |
Het |
|
| Other mutations in Tmprss11g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Tmprss11g
|
APN |
5 |
86,640,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01611:Tmprss11g
|
APN |
5 |
86,638,640 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02417:Tmprss11g
|
APN |
5 |
86,638,750 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02677:Tmprss11g
|
APN |
5 |
86,640,149 (GRCm39) |
missense |
probably benign |
|
|
IGL02832:Tmprss11g
|
APN |
5 |
86,645,128 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02887:Tmprss11g
|
APN |
5 |
86,645,188 (GRCm39) |
splice site |
probably benign |
|
|
R0377:Tmprss11g
|
UTSW |
5 |
86,638,610 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1037:Tmprss11g
|
UTSW |
5 |
86,638,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1507:Tmprss11g
|
UTSW |
5 |
86,647,470 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1617:Tmprss11g
|
UTSW |
5 |
86,647,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1955:Tmprss11g
|
UTSW |
5 |
86,646,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2094:Tmprss11g
|
UTSW |
5 |
86,647,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2906:Tmprss11g
|
UTSW |
5 |
86,640,661 (GRCm39) |
intron |
probably benign |
|
|
R4730:Tmprss11g
|
UTSW |
5 |
86,637,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4730:Tmprss11g
|
UTSW |
5 |
86,637,091 (GRCm39) |
nonsense |
probably null |
|
|
R4934:Tmprss11g
|
UTSW |
5 |
86,644,401 (GRCm39) |
missense |
probably benign |
|
|
R4982:Tmprss11g
|
UTSW |
5 |
86,640,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Tmprss11g
|
UTSW |
5 |
86,644,377 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5606:Tmprss11g
|
UTSW |
5 |
86,635,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Tmprss11g
|
UTSW |
5 |
86,646,392 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6291:Tmprss11g
|
UTSW |
5 |
86,635,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Tmprss11g
|
UTSW |
5 |
86,640,015 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6849:Tmprss11g
|
UTSW |
5 |
86,644,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6925:Tmprss11g
|
UTSW |
5 |
86,635,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6925:Tmprss11g
|
UTSW |
5 |
86,635,285 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7084:Tmprss11g
|
UTSW |
5 |
86,640,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7089:Tmprss11g
|
UTSW |
5 |
86,637,150 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7190:Tmprss11g
|
UTSW |
5 |
86,644,491 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7352:Tmprss11g
|
UTSW |
5 |
86,644,401 (GRCm39) |
missense |
not run |
|
|
R7432:Tmprss11g
|
UTSW |
5 |
86,644,366 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7514:Tmprss11g
|
UTSW |
5 |
86,645,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8198:Tmprss11g
|
UTSW |
5 |
86,646,352 (GRCm39) |
missense |
probably benign |
|
|
R8490:Tmprss11g
|
UTSW |
5 |
86,639,976 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8495:Tmprss11g
|
UTSW |
5 |
86,640,119 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8706:Tmprss11g
|
UTSW |
5 |
86,644,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8730:Tmprss11g
|
UTSW |
5 |
86,638,837 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9158:Tmprss11g
|
UTSW |
5 |
86,637,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9224:Tmprss11g
|
UTSW |
5 |
86,640,003 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACAAGGTATTTCTCACCACCGGG -3'
(R):5'- ATTGTTCACGAGAACTACGCCTCC -3'
Sequencing Primer
(F):5'- CCTGCTGCTTTATGGAAAGAATG -3'
(R):5'- TCCCACAAGCACGACGATG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation