Incidental Mutation 'R6375:Tmem39a'
| ID |
514935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem39a
|
| Ensembl Gene |
ENSMUSG00000002845 |
| Gene Name |
transmembrane protein 39a |
| Synonyms |
|
| MMRRC Submission |
044525-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R6375 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
38379060-38412524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38405599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 59
(T59A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002924]
[ENSMUST00000163133]
[ENSMUST00000163884]
[ENSMUST00000163948]
[ENSMUST00000171687]
|
| AlphaFold |
Q9CYC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002924
AA Change: T213A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002924
Gene: ENSMUSG00000002845
AA Change: T213A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
40 |
476 |
9.4e-198 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163133
|
| SMART Domains |
Protein: ENSMUSP00000130122
Gene: ENSMUSG00000002845
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163549
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163884
AA Change: T213A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132515
Gene: ENSMUSG00000002845
AA Change: T213A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
41 |
N/A |
INTRINSIC |
|
Pfam:Tmp39
|
42 |
475 |
1.3e-198 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163948
AA Change: T59A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000130791
Gene: ENSMUSG00000002845
AA Change: T59A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
34 |
N/A |
INTRINSIC |
|
Pfam:Tmp39
|
35 |
164 |
7.1e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165140
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165631
|
| SMART Domains |
Protein: ENSMUSP00000130186
Gene: ENSMUSG00000002845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
1 |
101 |
9.7e-49 |
PFAM |
|
Pfam:Tmp39
|
99 |
134 |
1.7e-18 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000166854
AA Change: T93A
|
| SMART Domains |
Protein: ENSMUSP00000127040
Gene: ENSMUSG00000002845
AA Change: T93A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
1 |
152 |
4.9e-44 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000169554
AA Change: T26A
|
| SMART Domains |
Protein: ENSMUSP00000127143
Gene: ENSMUSG00000002845
AA Change: T26A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
1 |
190 |
2.2e-69 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171687
|
| SMART Domains |
Protein: ENSMUSP00000126218
Gene: ENSMUSG00000002845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
40 |
192 |
4.4e-62 |
PFAM |
|
Pfam:Tmp39
|
193 |
408 |
4.2e-119 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171064
|
| Meta Mutation Damage Score |
0.0593 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,606,536 (GRCm39) |
I797N |
possibly damaging |
Het |
| Actbl2 |
A |
G |
13: 111,392,478 (GRCm39) |
E271G |
probably damaging |
Het |
| Aplp2 |
T |
C |
9: 31,069,084 (GRCm39) |
N526D |
probably benign |
Het |
| Cacna1e |
A |
C |
1: 154,355,051 (GRCm39) |
N389K |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,322,820 (GRCm39) |
I640T |
possibly damaging |
Het |
| Ccdc39 |
T |
A |
3: 33,868,516 (GRCm39) |
T857S |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 61,288,152 (GRCm39) |
L105* |
probably null |
Het |
| Efhc1 |
T |
A |
1: 21,043,164 (GRCm39) |
M361K |
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,765,127 (GRCm39) |
|
|
Het |
| Fgfr2 |
C |
A |
7: 129,769,475 (GRCm39) |
L637F |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,492,164 (GRCm39) |
|
probably null |
Het |
| Gm4302 |
A |
G |
10: 100,177,258 (GRCm39) |
T181A |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Hoxb4 |
A |
G |
11: 96,211,153 (GRCm39) |
*251W |
probably null |
Het |
| Il1r1 |
T |
A |
1: 40,334,050 (GRCm39) |
Y207N |
probably damaging |
Het |
| Kcnc2 |
C |
T |
10: 112,299,094 (GRCm39) |
T622M |
possibly damaging |
Het |
| Kcnk9 |
C |
T |
15: 72,418,092 (GRCm39) |
A13T |
probably benign |
Het |
| Kdm4c |
C |
T |
4: 74,248,952 (GRCm39) |
P69S |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,704,517 (GRCm39) |
S1237P |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,391,915 (GRCm39) |
T1170I |
probably benign |
Het |
| Lyn |
T |
A |
4: 3,745,527 (GRCm39) |
F109I |
probably damaging |
Het |
| Lynx1 |
T |
C |
15: 74,623,168 (GRCm39) |
Y88C |
probably damaging |
Het |
| Mon1b |
T |
A |
8: 114,364,709 (GRCm39) |
I162N |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,555,061 (GRCm39) |
|
probably benign |
Het |
| Nbn |
T |
A |
4: 15,979,327 (GRCm39) |
F437L |
probably benign |
Het |
| Neil3 |
T |
C |
8: 54,040,311 (GRCm39) |
K564E |
possibly damaging |
Het |
| Nfe2l1 |
A |
T |
11: 96,710,877 (GRCm39) |
S293T |
probably damaging |
Het |
| Or10al5 |
T |
A |
17: 38,062,990 (GRCm39) |
S82T |
probably benign |
Het |
| Or14c39 |
C |
T |
7: 86,344,267 (GRCm39) |
A201V |
probably benign |
Het |
| Or2ag2 |
C |
A |
7: 106,485,221 (GRCm39) |
A268S |
probably benign |
Het |
| Or51g2 |
T |
C |
7: 102,622,960 (GRCm39) |
T80A |
probably damaging |
Het |
| Pcdhb22 |
A |
T |
18: 37,651,357 (GRCm39) |
|
probably benign |
Het |
| Pcdhgb6 |
A |
G |
18: 37,875,678 (GRCm39) |
N129D |
probably damaging |
Het |
| Pias2 |
C |
T |
18: 77,240,366 (GRCm39) |
T574M |
possibly damaging |
Het |
| Plec |
G |
A |
15: 76,061,840 (GRCm39) |
T2564I |
probably damaging |
Het |
| Qrich2 |
A |
G |
11: 116,349,054 (GRCm39) |
|
probably benign |
Het |
| Scgb1b12 |
T |
A |
7: 32,033,884 (GRCm39) |
V48E |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,372,422 (GRCm39) |
L224Q |
probably damaging |
Het |
| Snx3 |
T |
A |
10: 42,410,727 (GRCm39) |
Y132* |
probably null |
Het |
| Stk39 |
T |
A |
2: 68,222,582 (GRCm39) |
I161F |
probably benign |
Het |
| Tcaf2 |
A |
C |
6: 42,603,112 (GRCm39) |
L816R |
probably damaging |
Het |
| Thap4 |
C |
A |
1: 93,652,878 (GRCm39) |
|
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,256,037 (GRCm39) |
V704E |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,727,939 (GRCm39) |
N376S |
probably damaging |
Het |
| Vmn1r60 |
T |
C |
7: 5,548,017 (GRCm39) |
N28D |
probably damaging |
Het |
| Zfp637 |
C |
T |
6: 117,822,285 (GRCm39) |
R138W |
probably damaging |
Het |
|
| Other mutations in Tmem39a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03276:Tmem39a
|
APN |
16 |
38,405,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0270:Tmem39a
|
UTSW |
16 |
38,384,675 (GRCm39) |
splice site |
probably benign |
|
|
R0382:Tmem39a
|
UTSW |
16 |
38,411,760 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0539:Tmem39a
|
UTSW |
16 |
38,411,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0743:Tmem39a
|
UTSW |
16 |
38,405,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1324:Tmem39a
|
UTSW |
16 |
38,393,531 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4052:Tmem39a
|
UTSW |
16 |
38,406,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Tmem39a
|
UTSW |
16 |
38,411,524 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4919:Tmem39a
|
UTSW |
16 |
38,405,561 (GRCm39) |
missense |
probably benign |
|
|
R5109:Tmem39a
|
UTSW |
16 |
38,411,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5901:Tmem39a
|
UTSW |
16 |
38,393,568 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5978:Tmem39a
|
UTSW |
16 |
38,411,392 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5979:Tmem39a
|
UTSW |
16 |
38,396,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7357:Tmem39a
|
UTSW |
16 |
38,406,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Tmem39a
|
UTSW |
16 |
38,408,658 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8114:Tmem39a
|
UTSW |
16 |
38,411,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8114:Tmem39a
|
UTSW |
16 |
38,411,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9756:Tmem39a
|
UTSW |
16 |
38,396,126 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Tmem39a
|
UTSW |
16 |
38,396,140 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1176:Tmem39a
|
UTSW |
16 |
38,408,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGTCAAGAACGTCCCTG -3'
(R):5'- TCATTGCGAATGAGATCAGGAG -3'
Sequencing Primer
(F):5'- GTGGAGGCAGTCTACCAAACC -3'
(R):5'- CATTGCGAATGAGATCAGGAGATAGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation