Incidental Mutation 'R4495:Tmprss11b'
| ID |
330926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss11b
|
| Ensembl Gene |
ENSMUSG00000035861 |
| Gene Name |
transmembrane protease, serine 11B |
| Synonyms |
Tmprss11bnl, 9930019B18Rik |
| MMRRC Submission |
041583-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4495 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
86806326-86824221 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 86812922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 125
(K125*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038448]
|
| AlphaFold |
Q14C59 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038448
AA Change: K125*
|
| SMART Domains |
Protein: ENSMUSP00000042406
Gene: ENSMUSG00000035861
AA Change: K125*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:SEA
|
46 |
148 |
2.3e-26 |
PFAM |
|
Tryp_SPc
|
184 |
410 |
6.19e-89 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Cdh4 |
T |
C |
2: 179,422,182 (GRCm39) |
V102A |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,230,573 (GRCm39) |
E1505G |
probably benign |
Het |
| Cyp2b9 |
T |
A |
7: 25,900,180 (GRCm39) |
D329E |
probably benign |
Het |
| Ddx47 |
T |
C |
6: 134,998,429 (GRCm39) |
F375S |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,124,792 (GRCm39) |
S154A |
probably benign |
Het |
| Fry |
G |
T |
5: 150,233,928 (GRCm39) |
E133D |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,322,034 (GRCm39) |
L4562P |
probably damaging |
Het |
| Ifnlr1 |
A |
T |
4: 135,433,079 (GRCm39) |
E505V |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,897,416 (GRCm39) |
E1050G |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,088,301 (GRCm39) |
|
probably null |
Het |
| Klra10 |
T |
G |
6: 130,256,311 (GRCm39) |
E114D |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,813 (GRCm39) |
I38V |
probably benign |
Het |
| Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
| Nrxn2 |
A |
T |
19: 6,581,429 (GRCm39) |
T412S |
probably benign |
Het |
| Or4k37 |
T |
A |
2: 111,159,365 (GRCm39) |
N200K |
probably benign |
Het |
| Palm3 |
C |
T |
8: 84,753,495 (GRCm39) |
R97C |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,099,445 (GRCm39) |
V848A |
probably benign |
Het |
| Prdx1 |
T |
C |
4: 116,556,416 (GRCm39) |
V188A |
probably benign |
Het |
| Prep |
T |
C |
10: 44,996,915 (GRCm39) |
F398L |
probably benign |
Het |
| Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
| Rwdd2b |
T |
C |
16: 87,231,450 (GRCm39) |
T235A |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,111,146 (GRCm39) |
|
probably null |
Het |
| Sidt1 |
C |
T |
16: 44,102,841 (GRCm39) |
V295M |
probably damaging |
Het |
| Sla |
T |
C |
15: 66,673,361 (GRCm39) |
T10A |
probably benign |
Het |
| Slc22a20 |
A |
G |
19: 6,034,952 (GRCm39) |
S170P |
probably benign |
Het |
| Syt6 |
C |
A |
3: 103,494,876 (GRCm39) |
C280* |
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,905 (GRCm39) |
L237H |
probably damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Wdr53 |
A |
G |
16: 32,070,969 (GRCm39) |
T105A |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,745 (GRCm39) |
N302S |
possibly damaging |
Het |
| Zfp704 |
T |
A |
3: 9,536,137 (GRCm39) |
S128C |
probably benign |
Het |
| Zfp759 |
A |
G |
13: 67,286,989 (GRCm39) |
|
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,625,075 (GRCm39) |
D1494E |
probably benign |
Het |
|
| Other mutations in Tmprss11b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01122:Tmprss11b
|
APN |
5 |
86,811,376 (GRCm39) |
missense |
probably benign |
|
|
IGL02340:Tmprss11b
|
APN |
5 |
86,810,090 (GRCm39) |
missense |
probably benign |
|
|
IGL02500:Tmprss11b
|
APN |
5 |
86,815,182 (GRCm39) |
critical splice donor site |
probably null |
|
|
demolished
|
UTSW |
5 |
86,812,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0356:Tmprss11b
|
UTSW |
5 |
86,808,326 (GRCm39) |
makesense |
probably null |
|
|
R0506:Tmprss11b
|
UTSW |
5 |
86,809,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0528:Tmprss11b
|
UTSW |
5 |
86,819,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Tmprss11b
|
UTSW |
5 |
86,812,832 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1471:Tmprss11b
|
UTSW |
5 |
86,808,355 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1554:Tmprss11b
|
UTSW |
5 |
86,809,490 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3436:Tmprss11b
|
UTSW |
5 |
86,815,443 (GRCm39) |
nonsense |
probably null |
|
|
R3829:Tmprss11b
|
UTSW |
5 |
86,809,449 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4409:Tmprss11b
|
UTSW |
5 |
86,812,137 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4624:Tmprss11b
|
UTSW |
5 |
86,812,895 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4834:Tmprss11b
|
UTSW |
5 |
86,811,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Tmprss11b
|
UTSW |
5 |
86,810,092 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5812:Tmprss11b
|
UTSW |
5 |
86,812,957 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6262:Tmprss11b
|
UTSW |
5 |
86,810,119 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6882:Tmprss11b
|
UTSW |
5 |
86,819,530 (GRCm39) |
splice site |
probably null |
|
|
R6893:Tmprss11b
|
UTSW |
5 |
86,811,245 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7312:Tmprss11b
|
UTSW |
5 |
86,812,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Tmprss11b
|
UTSW |
5 |
86,809,554 (GRCm39) |
splice site |
probably null |
|
|
R8101:Tmprss11b
|
UTSW |
5 |
86,812,821 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0067:Tmprss11b
|
UTSW |
5 |
86,810,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tmprss11b
|
UTSW |
5 |
86,809,472 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1177:Tmprss11b
|
UTSW |
5 |
86,808,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGGTGTTTATGACATGTCCTAG -3'
(R):5'- AGAGCTGTGCATCTTCAGTTGAC -3'
Sequencing Primer
(F):5'- TGACATGTCCTAGGCACAAAATG -3'
(R):5'- CAGACTAGAAGCTTCATCCTGAGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation