Incidental Mutation 'IGL03046:Emilin3'
| ID |
391843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emilin3
|
| Ensembl Gene |
ENSMUSG00000050700 |
| Gene Name |
elastin microfibril interfacer 3 |
| Synonyms |
1110013O17Rik, EMILIN-T, Emilin5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03046 (G1)
|
| Quality Score |
94 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
160748357-160754248 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 160750649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 320
(Q320*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040872]
[ENSMUST00000057169]
[ENSMUST00000109454]
[ENSMUST00000109455]
[ENSMUST00000109456]
[ENSMUST00000109457]
|
| AlphaFold |
P59900 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040872
|
| SMART Domains |
Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
114 |
5.8e-52 |
PFAM |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
569 |
N/A |
INTRINSIC |
|
LNS2
|
637 |
793 |
1.4e-105 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000057169
AA Change: Q367*
|
| SMART Domains |
Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: Q367*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
55 |
125 |
7.3e-18 |
PFAM |
|
low complexity region
|
144 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109454
AA Change: Q320*
|
| SMART Domains |
Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
AA Change: Q320*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
54 |
127 |
6.4e-22 |
PFAM |
|
low complexity region
|
144 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
413 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109455
|
| SMART Domains |
Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
114 |
2.4e-52 |
PFAM |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
538 |
N/A |
INTRINSIC |
|
LNS2
|
606 |
762 |
1.4e-105 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109456
|
| SMART Domains |
Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
114 |
5.8e-52 |
PFAM |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
569 |
N/A |
INTRINSIC |
|
LNS2
|
637 |
793 |
1.4e-105 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109457
|
| SMART Domains |
Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipin_N
|
1 |
110 |
4.1e-48 |
PFAM |
|
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
Pfam:Lipin_mid
|
435 |
538 |
9.5e-35 |
PFAM |
|
low complexity region
|
569 |
579 |
N/A |
INTRINSIC |
|
LNS2
|
647 |
803 |
1.4e-105 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124920
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,636,282 (GRCm39) |
M717K |
probably benign |
Het |
| Acad12 |
C |
A |
5: 121,748,029 (GRCm39) |
V130L |
probably benign |
Het |
| Cdca2 |
T |
C |
14: 67,937,471 (GRCm39) |
|
probably benign |
Het |
| Cfap100 |
T |
A |
6: 90,389,332 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
T |
A |
19: 47,804,302 (GRCm39) |
E298V |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,990,500 (GRCm39) |
P1971S |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,761,681 (GRCm39) |
D611G |
probably benign |
Het |
| Daglb |
C |
T |
5: 143,486,948 (GRCm39) |
P522L |
probably damaging |
Het |
| Dclre1b |
A |
T |
3: 103,710,597 (GRCm39) |
I438K |
probably benign |
Het |
| Ddx5 |
C |
A |
11: 106,675,871 (GRCm39) |
R273M |
probably damaging |
Het |
| Eepd1 |
C |
T |
9: 25,393,981 (GRCm39) |
L82F |
probably damaging |
Het |
| Exoc6 |
T |
C |
19: 37,582,217 (GRCm39) |
|
probably null |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Foxs1 |
T |
C |
2: 152,774,484 (GRCm39) |
T190A |
probably benign |
Het |
| Gje1 |
A |
G |
10: 14,592,374 (GRCm39) |
L136P |
probably damaging |
Het |
| Hdac11 |
A |
G |
6: 91,145,827 (GRCm39) |
T176A |
probably benign |
Het |
| Hhip |
C |
A |
8: 80,698,967 (GRCm39) |
V700L |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,426,463 (GRCm39) |
|
probably benign |
Het |
| Itgb1bp1 |
T |
C |
12: 21,329,436 (GRCm39) |
S13G |
unknown |
Het |
| Kcna1 |
A |
T |
6: 126,619,148 (GRCm39) |
L391M |
possibly damaging |
Het |
| Kif1a |
C |
T |
1: 93,010,128 (GRCm39) |
V6M |
probably damaging |
Het |
| Klhl6 |
T |
C |
16: 19,801,639 (GRCm39) |
I39V |
probably benign |
Het |
| Lpcat4 |
C |
A |
2: 112,072,334 (GRCm39) |
|
silent |
Het |
| Ltn1 |
A |
T |
16: 87,202,509 (GRCm39) |
S1047R |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,694,495 (GRCm39) |
T1073A |
possibly damaging |
Het |
| Megf10 |
G |
T |
18: 57,421,055 (GRCm39) |
A898S |
possibly damaging |
Het |
| Mtmr6 |
T |
C |
14: 60,529,577 (GRCm39) |
|
probably null |
Het |
| Mtnr1b |
T |
C |
9: 15,774,059 (GRCm39) |
I333M |
probably benign |
Het |
| Muc5ac |
G |
T |
7: 141,348,950 (GRCm39) |
C463F |
probably benign |
Het |
| Mycbpap |
G |
T |
11: 94,396,543 (GRCm39) |
T99N |
possibly damaging |
Het |
| Myo7a |
C |
T |
7: 97,728,534 (GRCm39) |
C824Y |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,948,303 (GRCm39) |
H311R |
probably damaging |
Het |
| Nepro |
T |
A |
16: 44,552,509 (GRCm39) |
|
probably benign |
Het |
| Nop56 |
A |
T |
2: 130,117,489 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
A |
G |
6: 90,995,978 (GRCm39) |
|
probably benign |
Het |
| Or4d10c |
A |
G |
19: 12,065,391 (GRCm39) |
V255A |
probably damaging |
Het |
| Or7g25 |
T |
A |
9: 19,160,441 (GRCm39) |
I85F |
probably damaging |
Het |
| Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
| Pgap6 |
A |
T |
17: 26,338,414 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
G |
1: 20,607,589 (GRCm39) |
D1089A |
possibly damaging |
Het |
| Plb1 |
A |
G |
5: 32,485,756 (GRCm39) |
R847G |
probably damaging |
Het |
| Pou6f2 |
A |
G |
13: 18,303,612 (GRCm39) |
|
probably benign |
Het |
| Prss43 |
C |
G |
9: 110,660,049 (GRCm39) |
S371C |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,741,942 (GRCm39) |
V1322D |
probably damaging |
Het |
| Rrp8 |
A |
G |
7: 105,384,109 (GRCm39) |
V131A |
probably benign |
Het |
| Rtp1 |
A |
T |
16: 23,248,044 (GRCm39) |
K39M |
probably benign |
Het |
| Sanbr |
A |
T |
11: 23,565,150 (GRCm39) |
L279Q |
possibly damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,636,008 (GRCm39) |
I358V |
probably benign |
Het |
| Slc25a15 |
T |
C |
8: 22,885,726 (GRCm39) |
|
probably benign |
Het |
| Slc43a1 |
G |
A |
2: 84,684,897 (GRCm39) |
|
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Spock3 |
T |
G |
8: 63,802,018 (GRCm39) |
|
probably null |
Het |
| Tbc1d7 |
T |
C |
13: 43,308,162 (GRCm39) |
|
probably null |
Het |
| Tmem184c |
C |
T |
8: 78,326,286 (GRCm39) |
W260* |
probably null |
Het |
| Trnau1ap |
A |
G |
4: 132,039,252 (GRCm39) |
Y265H |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,871,754 (GRCm39) |
F363S |
probably damaging |
Het |
| Vcl |
T |
C |
14: 21,072,085 (GRCm39) |
F817L |
possibly damaging |
Het |
| Vmn1r13 |
T |
A |
6: 57,187,717 (GRCm39) |
M292K |
probably benign |
Het |
| Xpc |
G |
T |
6: 91,487,463 (GRCm39) |
A89E |
probably damaging |
Het |
|
| Other mutations in Emilin3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01104:Emilin3
|
APN |
2 |
160,751,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02231:Emilin3
|
APN |
2 |
160,750,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Emilin3
|
APN |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL02813:Emilin3
|
APN |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL02892:Emilin3
|
APN |
2 |
160,751,069 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03012:Emilin3
|
APN |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL03017:Emilin3
|
APN |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL03083:Emilin3
|
APN |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL03094:Emilin3
|
APN |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL03163:Emilin3
|
APN |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
IGL03206:Emilin3
|
APN |
2 |
160,752,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02835:Emilin3
|
UTSW |
2 |
160,750,649 (GRCm39) |
nonsense |
probably null |
|
|
PIT1430001:Emilin3
|
UTSW |
2 |
160,750,402 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0373:Emilin3
|
UTSW |
2 |
160,751,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0392:Emilin3
|
UTSW |
2 |
160,752,799 (GRCm39) |
unclassified |
probably benign |
|
|
R0420:Emilin3
|
UTSW |
2 |
160,752,799 (GRCm39) |
unclassified |
probably benign |
|
|
R0627:Emilin3
|
UTSW |
2 |
160,750,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0628:Emilin3
|
UTSW |
2 |
160,752,799 (GRCm39) |
unclassified |
probably benign |
|
|
R0671:Emilin3
|
UTSW |
2 |
160,750,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1655:Emilin3
|
UTSW |
2 |
160,752,786 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2016:Emilin3
|
UTSW |
2 |
160,751,530 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2017:Emilin3
|
UTSW |
2 |
160,751,530 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3624:Emilin3
|
UTSW |
2 |
160,750,177 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4062:Emilin3
|
UTSW |
2 |
160,749,716 (GRCm39) |
missense |
probably benign |
|
|
R4307:Emilin3
|
UTSW |
2 |
160,750,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4365:Emilin3
|
UTSW |
2 |
160,750,406 (GRCm39) |
missense |
probably benign |
|
|
R4669:Emilin3
|
UTSW |
2 |
160,752,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5076:Emilin3
|
UTSW |
2 |
160,751,238 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5227:Emilin3
|
UTSW |
2 |
160,751,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5725:Emilin3
|
UTSW |
2 |
160,750,410 (GRCm39) |
nonsense |
probably null |
|
|
R5914:Emilin3
|
UTSW |
2 |
160,750,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Emilin3
|
UTSW |
2 |
160,751,105 (GRCm39) |
missense |
probably benign |
|
|
R6030:Emilin3
|
UTSW |
2 |
160,751,105 (GRCm39) |
missense |
probably benign |
|
|
R6919:Emilin3
|
UTSW |
2 |
160,750,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7353:Emilin3
|
UTSW |
2 |
160,750,741 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7618:Emilin3
|
UTSW |
2 |
160,751,199 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7773:Emilin3
|
UTSW |
2 |
160,752,718 (GRCm39) |
nonsense |
probably null |
|
|
R7785:Emilin3
|
UTSW |
2 |
160,752,694 (GRCm39) |
nonsense |
probably null |
|
|
R8082:Emilin3
|
UTSW |
2 |
160,750,066 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8187:Emilin3
|
UTSW |
2 |
160,750,000 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8887:Emilin3
|
UTSW |
2 |
160,751,108 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9241:Emilin3
|
UTSW |
2 |
160,750,177 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
RF009:Emilin3
|
UTSW |
2 |
160,751,012 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Emilin3
|
UTSW |
2 |
160,749,721 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCCCTGAAGCATAGCTG -3'
(R):5'- CGCTCCTAGAGGAATACGTG -3'
Sequencing Primer
(F):5'- CATAGCTGCAGAGAGGCGC -3'
(R):5'- CTCCTAGAGGAATACGTGGACCAG -3'
|
| Posted On |
2016-06-07 |
Incidental Mutation