Incidental Mutation 'R4543:Tmprss11a'
| ID |
333618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss11a
|
| Ensembl Gene |
ENSMUSG00000072845 |
| Gene Name |
transmembrane protease, serine 11a |
| Synonyms |
LOC194597 |
| MMRRC Submission |
041778-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4543 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86558269-86616849 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 86559668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 375
(Q375*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101073]
|
| AlphaFold |
Q3UQ41 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000101073
AA Change: Q375*
|
| SMART Domains |
Protein: ENSMUSP00000098634
Gene: ENSMUSG00000072845
AA Change: Q375*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
|
Pfam:SEA
|
36 |
135 |
3.2e-23 |
PFAM |
|
Tryp_SPc
|
157 |
383 |
1.98e-87 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198504
|
| Meta Mutation Damage Score |
0.9717 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
94% (44/47) |
| MGI Phenotype |
PHENOTYPE: Homozygous mice for a targeted mutation appear normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,789,749 (GRCm39) |
S500T |
probably damaging |
Het |
| Abhd3 |
T |
C |
18: 10,706,672 (GRCm39) |
D2G |
possibly damaging |
Het |
| Ablim1 |
C |
T |
19: 57,065,874 (GRCm39) |
R366H |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,713,874 (GRCm39) |
H186Q |
probably benign |
Het |
| Ankmy1 |
G |
T |
1: 92,812,572 (GRCm39) |
A579E |
probably damaging |
Het |
| Ap2b1 |
C |
A |
11: 83,215,476 (GRCm39) |
T140K |
probably damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,211,508 (GRCm39) |
E158D |
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,199,986 (GRCm39) |
F885L |
probably damaging |
Het |
| Barx2 |
A |
G |
9: 31,758,092 (GRCm39) |
L282S |
unknown |
Het |
| Catsper2 |
C |
T |
2: 121,237,890 (GRCm39) |
W163* |
probably null |
Het |
| Cep295 |
T |
C |
9: 15,246,549 (GRCm39) |
T588A |
possibly damaging |
Het |
| Chil3 |
T |
G |
3: 106,067,686 (GRCm39) |
K160Q |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,452,749 (GRCm39) |
Q578L |
probably damaging |
Het |
| Crp |
A |
C |
1: 172,526,304 (GRCm39) |
I130L |
probably benign |
Het |
| Dtwd2 |
C |
A |
18: 49,857,175 (GRCm39) |
|
probably null |
Het |
| Fads3 |
T |
C |
19: 10,019,175 (GRCm39) |
F27S |
possibly damaging |
Het |
| Gm3604 |
T |
C |
13: 62,517,970 (GRCm39) |
D109G |
probably benign |
Het |
| Gtf2ird1 |
A |
G |
5: 134,392,754 (GRCm39) |
|
probably null |
Het |
| H2-K2 |
C |
T |
17: 34,218,532 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
T |
C |
11: 102,104,770 (GRCm39) |
|
probably benign |
Het |
| Il6st |
G |
A |
13: 112,617,993 (GRCm39) |
V136M |
probably damaging |
Het |
| Immt |
T |
C |
6: 71,828,762 (GRCm39) |
S106P |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,960,168 (GRCm39) |
I492T |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,692,715 (GRCm39) |
F97S |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,248,997 (GRCm39) |
I84V |
probably benign |
Het |
| Kif7 |
G |
A |
7: 79,357,296 (GRCm39) |
P637S |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,604,851 (GRCm39) |
I109K |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,998,929 (GRCm39) |
C619S |
probably damaging |
Het |
| Mgat4f |
T |
A |
1: 134,317,531 (GRCm39) |
M101K |
probably benign |
Het |
| Or8g51 |
A |
G |
9: 38,608,841 (GRCm39) |
S274P |
possibly damaging |
Het |
| Polq |
T |
C |
16: 36,881,147 (GRCm39) |
C1104R |
probably benign |
Het |
| Rbfox2 |
A |
T |
15: 77,190,568 (GRCm39) |
M59K |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,383,290 (GRCm39) |
V110A |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,540,685 (GRCm39) |
V180D |
probably damaging |
Het |
| Sox21 |
CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC |
CCAGCGGCGGCGGCGGCAGCGGC |
14: 118,472,548 (GRCm39) |
|
probably benign |
Het |
| Stap2 |
C |
T |
17: 56,304,604 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,582,041 (GRCm39) |
T419A |
probably benign |
Het |
| Trav12-3 |
CTCTG |
CTCTGTCTG |
14: 53,859,693 (GRCm39) |
|
probably null |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,907 (GRCm39) |
S88T |
possibly damaging |
Het |
| Zfp622 |
T |
A |
15: 25,991,623 (GRCm39) |
D143E |
possibly damaging |
Het |
|
| Other mutations in Tmprss11a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01596:Tmprss11a
|
APN |
5 |
86,570,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02413:Tmprss11a
|
APN |
5 |
86,570,507 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02533:Tmprss11a
|
APN |
5 |
86,562,386 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1202:Tmprss11a
|
UTSW |
5 |
86,559,784 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1273:Tmprss11a
|
UTSW |
5 |
86,562,447 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1704:Tmprss11a
|
UTSW |
5 |
86,576,561 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1756:Tmprss11a
|
UTSW |
5 |
86,568,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Tmprss11a
|
UTSW |
5 |
86,567,891 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1967:Tmprss11a
|
UTSW |
5 |
86,579,702 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2944:Tmprss11a
|
UTSW |
5 |
86,576,511 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3881:Tmprss11a
|
UTSW |
5 |
86,593,664 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4512:Tmprss11a
|
UTSW |
5 |
86,576,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4515:Tmprss11a
|
UTSW |
5 |
86,568,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4530:Tmprss11a
|
UTSW |
5 |
86,576,540 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4881:Tmprss11a
|
UTSW |
5 |
86,570,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5066:Tmprss11a
|
UTSW |
5 |
86,567,859 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5186:Tmprss11a
|
UTSW |
5 |
86,567,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5254:Tmprss11a
|
UTSW |
5 |
86,559,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5313:Tmprss11a
|
UTSW |
5 |
86,559,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6516:Tmprss11a
|
UTSW |
5 |
86,567,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6920:Tmprss11a
|
UTSW |
5 |
86,576,494 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7018:Tmprss11a
|
UTSW |
5 |
86,576,429 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7566:Tmprss11a
|
UTSW |
5 |
86,591,993 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7962:Tmprss11a
|
UTSW |
5 |
86,567,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9299:Tmprss11a
|
UTSW |
5 |
86,570,361 (GRCm39) |
nonsense |
probably null |
|
|
R9479:Tmprss11a
|
UTSW |
5 |
86,562,402 (GRCm39) |
nonsense |
probably null |
|
|
R9529:Tmprss11a
|
UTSW |
5 |
86,576,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9591:Tmprss11a
|
UTSW |
5 |
86,567,897 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0057:Tmprss11a
|
UTSW |
5 |
86,593,667 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0063:Tmprss11a
|
UTSW |
5 |
86,562,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tmprss11a
|
UTSW |
5 |
86,576,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTCACATTGCTAGGTCCAGC -3'
(R):5'- ACGTGGTTCTTAAGGTGATATTCAG -3'
Sequencing Primer
(F):5'- ACATTGCTAGGTCCAGCCATTTAATC -3'
(R):5'- CATCTCATGTCCAGCAGTAGATG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation