Incidental Mutation 'PIT4508001:Gjb5'
| ID |
556219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gjb5
|
| Ensembl Gene |
ENSMUSG00000042357 |
| Gene Name |
gap junction protein, beta 5 |
| Synonyms |
Cnx31.1, Cx31.1, Gjb-5, connexin 31.1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
PIT4508001 (G1)
|
| Quality Score |
119.008 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
127248600-127251957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127250033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 37
(L37Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046498]
[ENSMUST00000060419]
[ENSMUST00000106090]
|
| AlphaFold |
Q02739 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046498
AA Change: L37Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045325
Gene: ENSMUSG00000042357
AA Change: L37Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
CNX
|
42 |
75 |
1.99e-19 |
SMART |
|
Connexin_CCC
|
139 |
206 |
1.42e-33 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060419
|
| SMART Domains |
Protein: ENSMUSP00000053307
Gene: ENSMUSG00000046623
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
CNX
|
42 |
75 |
9.16e-19 |
SMART |
|
low complexity region
|
98 |
103 |
N/A |
INTRINSIC |
|
Connexin_CCC
|
141 |
208 |
6.28e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106090
|
| SMART Domains |
Protein: ENSMUSP00000101696
Gene: ENSMUSG00000046623
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
CNX
|
42 |
75 |
9.16e-19 |
SMART |
|
low complexity region
|
98 |
103 |
N/A |
INTRINSIC |
|
Connexin_CCC
|
141 |
208 |
6.28e-35 |
SMART |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 90.7%
- 10x: 84.6%
- 20x: 71.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality, reduced weight and reduced placental development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,176,128 (GRCm39) |
T1228A |
probably damaging |
Het |
| Actg2 |
A |
T |
6: 83,489,989 (GRCm39) |
I370N |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,557,137 (GRCm39) |
T330A |
possibly damaging |
Het |
| Atrip |
C |
T |
9: 108,903,057 (GRCm39) |
A6T |
possibly damaging |
Het |
| Bms1 |
G |
A |
6: 118,360,767 (GRCm39) |
R1234C |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,989,230 (GRCm39) |
T487S |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,767,284 (GRCm39) |
F478S |
probably damaging |
Het |
| Esco2 |
A |
T |
14: 66,068,914 (GRCm39) |
V132E |
probably damaging |
Het |
| Gm8020 |
T |
A |
14: 42,324,234 (GRCm39) |
Y24F |
|
Het |
| H2bc8 |
CTCGACCATCACGTC |
CTC |
13: 23,755,867 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,644,796 (GRCm39) |
L195P |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,874,816 (GRCm39) |
T1602A |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,153,662 (GRCm39) |
Y243* |
probably null |
Het |
| Itga3 |
T |
C |
11: 94,946,719 (GRCm39) |
H730R |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,974,451 (GRCm39) |
L866Q |
probably damaging |
Het |
| Krt81 |
A |
T |
15: 101,360,606 (GRCm39) |
L127Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,719,223 (GRCm39) |
I2262T |
probably damaging |
Het |
| Mxd3 |
A |
T |
13: 55,473,707 (GRCm39) |
D170E |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,076,331 (GRCm39) |
M811V |
probably benign |
Het |
| Naa16 |
A |
T |
14: 79,606,527 (GRCm39) |
D335E |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,249,028 (GRCm39) |
T58A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,351 (GRCm39) |
R292* |
probably null |
Het |
| Or52e2 |
T |
A |
7: 102,804,520 (GRCm39) |
M145L |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,524,059 (GRCm39) |
H56Y |
probably damaging |
Het |
| Pom121l12 |
A |
G |
11: 14,549,689 (GRCm39) |
R132G |
possibly damaging |
Het |
| Prss46 |
A |
G |
9: 110,680,484 (GRCm39) |
K210E |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,927,573 (GRCm39) |
Y1351H |
probably damaging |
Het |
| Shisa9 |
G |
A |
16: 12,085,344 (GRCm39) |
V318I |
probably benign |
Het |
| Slc41a2 |
T |
G |
10: 83,090,744 (GRCm39) |
H480P |
probably damaging |
Het |
| Slc45a1 |
C |
A |
4: 150,722,892 (GRCm39) |
A331S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,784,764 (GRCm39) |
F885I |
unknown |
Het |
| Speer4f1 |
T |
C |
5: 17,685,412 (GRCm39) |
S236P |
unknown |
Het |
| Zfp326 |
A |
T |
5: 106,062,556 (GRCm39) |
Q475L |
probably benign |
Het |
| Zzef1 |
T |
G |
11: 72,786,002 (GRCm39) |
V2058G |
probably benign |
Het |
|
| Other mutations in Gjb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02814:Gjb5
|
APN |
4 |
127,249,355 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03376:Gjb5
|
APN |
4 |
127,250,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:Gjb5
|
UTSW |
4 |
127,249,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2197:Gjb5
|
UTSW |
4 |
127,250,063 (GRCm39) |
splice site |
probably null |
|
|
R4968:Gjb5
|
UTSW |
4 |
127,250,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5419:Gjb5
|
UTSW |
4 |
127,249,652 (GRCm39) |
missense |
probably benign |
|
|
R5494:Gjb5
|
UTSW |
4 |
127,249,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5664:Gjb5
|
UTSW |
4 |
127,249,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5806:Gjb5
|
UTSW |
4 |
127,249,718 (GRCm39) |
missense |
probably benign |
|
|
R6369:Gjb5
|
UTSW |
4 |
127,249,723 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6408:Gjb5
|
UTSW |
4 |
127,249,940 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7747:Gjb5
|
UTSW |
4 |
127,249,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8488:Gjb5
|
UTSW |
4 |
127,250,078 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGGGTAAAGGTAACCTTCAC -3'
(R):5'- AAGTTCTCAAGCTGAGCACCC -3'
Sequencing Primer
(F):5'- TTCGATAGGCCACATGCATG -3'
(R):5'- TGAGCACCCCCTAACGTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation