Incidental Mutation 'R5845:Eml3'
| ID |
453594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml3
|
| Ensembl Gene |
ENSMUSG00000071647 |
| Gene Name |
echinoderm microtubule associated protein like 3 |
| Synonyms |
|
| MMRRC Submission |
044063-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.792)
|
| Stock # |
R5845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8906916-8918946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8916582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 701
(D701G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096240]
[ENSMUST00000096241]
[ENSMUST00000224272]
[ENSMUST00000224642]
|
| AlphaFold |
Q8VC03 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096240
|
| SMART Domains |
Protein: ENSMUSP00000093959
Gene: ENSMUSG00000071646
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
144 |
7.34e-34 |
SMART |
|
ELM2
|
147 |
201 |
5.58e-15 |
SMART |
|
SANT
|
264 |
313 |
2.24e-7 |
SMART |
|
ZnF_GATA
|
361 |
415 |
5.5e-15 |
SMART |
|
low complexity region
|
475 |
490 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096241
AA Change: D702G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093960
Gene: ENSMUSG00000071647
AA Change: D702G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
12 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
208 |
N/A |
INTRINSIC |
|
Pfam:HELP
|
215 |
286 |
5.3e-30 |
PFAM |
|
WD40
|
295 |
344 |
6.34e-2 |
SMART |
|
Blast:WD40
|
347 |
392 |
5e-22 |
BLAST |
|
WD40
|
395 |
434 |
1.56e-1 |
SMART |
|
WD40
|
450 |
487 |
2.64e2 |
SMART |
|
WD40
|
504 |
543 |
3.33e-1 |
SMART |
|
WD40
|
587 |
626 |
2.69e-5 |
SMART |
|
WD40
|
670 |
709 |
1.7e-2 |
SMART |
|
WD40
|
716 |
755 |
1.52e-4 |
SMART |
|
WD40
|
829 |
869 |
1.29e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132463
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135300
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137956
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224272
AA Change: D701G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224642
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225181
|
| Meta Mutation Damage Score |
0.9146 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.3%
|
| Validation Efficiency |
97% (59/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
T |
5: 121,764,146 (GRCm39) |
Y928N |
probably benign |
Het |
| Amz2 |
T |
C |
11: 109,324,755 (GRCm39) |
F213S |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,199,682 (GRCm39) |
S732C |
probably damaging |
Het |
| Ccnf |
C |
A |
17: 24,459,767 (GRCm39) |
D229Y |
possibly damaging |
Het |
| Cdon |
G |
T |
9: 35,368,762 (GRCm39) |
C332F |
probably damaging |
Het |
| Clca3b |
G |
A |
3: 144,531,077 (GRCm39) |
R758C |
possibly damaging |
Het |
| Cyp2ab1 |
C |
T |
16: 20,131,082 (GRCm39) |
R349H |
probably benign |
Het |
| Dock10 |
C |
T |
1: 80,483,459 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,078,550 (GRCm39) |
Y225N |
possibly damaging |
Het |
| Ear2 |
G |
A |
14: 44,340,618 (GRCm39) |
R92K |
probably benign |
Het |
| Eif3c |
T |
C |
7: 126,163,927 (GRCm39) |
S39G |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 16,288,506 (GRCm39) |
T339I |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,186,840 (GRCm39) |
D1687G |
possibly damaging |
Het |
| Fcnb |
C |
T |
2: 27,969,633 (GRCm39) |
|
probably null |
Het |
| Flacc1 |
T |
A |
1: 58,706,937 (GRCm39) |
E243D |
possibly damaging |
Het |
| Fscb |
A |
G |
12: 64,519,558 (GRCm39) |
V636A |
unknown |
Het |
| Gm6124 |
A |
G |
7: 38,869,299 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
T |
A |
5: 121,445,587 (GRCm39) |
|
probably null |
Het |
| Hrnr |
A |
T |
3: 93,239,944 (GRCm39) |
H3394L |
unknown |
Het |
| Hs1bp3 |
A |
G |
12: 8,386,275 (GRCm39) |
R226G |
probably benign |
Het |
| Ifngr2 |
T |
C |
16: 91,351,947 (GRCm39) |
V61A |
probably benign |
Het |
| Irag2 |
G |
A |
6: 145,117,392 (GRCm39) |
M376I |
probably benign |
Het |
| Kcnk2 |
T |
C |
1: 189,009,918 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Mgam |
T |
A |
6: 40,652,257 (GRCm39) |
N810K |
possibly damaging |
Het |
| Mis18a |
A |
G |
16: 90,518,522 (GRCm39) |
|
probably null |
Het |
| Nsmce3 |
A |
G |
7: 64,521,936 (GRCm39) |
V244A |
possibly damaging |
Het |
| Or10ag59 |
T |
C |
2: 87,406,367 (GRCm39) |
I313T |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,214,711 (GRCm39) |
V590D |
probably damaging |
Het |
| Prkab1 |
A |
T |
5: 116,162,219 (GRCm39) |
D30E |
probably benign |
Het |
| Rasgrp3 |
A |
T |
17: 75,810,142 (GRCm39) |
N281Y |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,426,757 (GRCm39) |
|
probably null |
Het |
| Slc26a6 |
T |
G |
9: 108,739,282 (GRCm39) |
V609G |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,068,662 (GRCm39) |
M2154K |
probably damaging |
Het |
| Stoml2 |
T |
G |
4: 43,030,008 (GRCm39) |
|
probably benign |
Het |
| Sult6b1 |
A |
C |
17: 79,202,059 (GRCm39) |
S148A |
probably damaging |
Het |
| Tmem131l |
A |
G |
3: 83,847,860 (GRCm39) |
V335A |
probably damaging |
Het |
| Tmem221 |
T |
A |
8: 72,007,788 (GRCm39) |
|
probably null |
Het |
| Tmem88 |
C |
G |
11: 69,288,504 (GRCm39) |
Q138H |
probably benign |
Het |
| Trpm8 |
T |
C |
1: 88,255,902 (GRCm39) |
Y186H |
probably benign |
Het |
| Trpv1 |
T |
C |
11: 73,131,407 (GRCm39) |
I7T |
probably damaging |
Het |
| Ttc34 |
T |
C |
4: 154,949,929 (GRCm39) |
S961P |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,734,486 (GRCm39) |
D1138G |
probably benign |
Het |
| Ubr7 |
C |
T |
12: 102,732,571 (GRCm39) |
R188C |
probably damaging |
Het |
| Uspl1 |
C |
T |
5: 149,130,770 (GRCm39) |
P118S |
probably benign |
Het |
| Vdr |
C |
A |
15: 97,767,647 (GRCm39) |
E114D |
possibly damaging |
Het |
| Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
| Zswim4 |
T |
A |
8: 84,943,871 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Eml3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00933:Eml3
|
APN |
19 |
8,913,762 (GRCm39) |
nonsense |
probably null |
|
|
IGL01398:Eml3
|
APN |
19 |
8,911,598 (GRCm39) |
splice site |
probably benign |
|
|
IGL01904:Eml3
|
APN |
19 |
8,914,130 (GRCm39) |
splice site |
probably benign |
|
|
IGL02557:Eml3
|
APN |
19 |
8,908,745 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02795:Eml3
|
APN |
19 |
8,911,142 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL03160:Eml3
|
APN |
19 |
8,912,319 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03172:Eml3
|
APN |
19 |
8,916,543 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03376:Eml3
|
APN |
19 |
8,911,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Eml3
|
UTSW |
19 |
8,915,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Eml3
|
UTSW |
19 |
8,915,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0097:Eml3
|
UTSW |
19 |
8,914,015 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0097:Eml3
|
UTSW |
19 |
8,914,015 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0599:Eml3
|
UTSW |
19 |
8,916,427 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0652:Eml3
|
UTSW |
19 |
8,910,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0827:Eml3
|
UTSW |
19 |
8,915,830 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0841:Eml3
|
UTSW |
19 |
8,915,049 (GRCm39) |
missense |
probably benign |
|
|
R0880:Eml3
|
UTSW |
19 |
8,918,279 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0924:Eml3
|
UTSW |
19 |
8,910,675 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1127:Eml3
|
UTSW |
19 |
8,913,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1156:Eml3
|
UTSW |
19 |
8,911,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1160:Eml3
|
UTSW |
19 |
8,910,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1427:Eml3
|
UTSW |
19 |
8,911,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1497:Eml3
|
UTSW |
19 |
8,913,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1679:Eml3
|
UTSW |
19 |
8,914,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1931:Eml3
|
UTSW |
19 |
8,914,507 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2119:Eml3
|
UTSW |
19 |
8,911,718 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4296:Eml3
|
UTSW |
19 |
8,908,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5122:Eml3
|
UTSW |
19 |
8,915,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5288:Eml3
|
UTSW |
19 |
8,916,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5467:Eml3
|
UTSW |
19 |
8,914,946 (GRCm39) |
nonsense |
probably null |
|
|
R5836:Eml3
|
UTSW |
19 |
8,918,659 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5879:Eml3
|
UTSW |
19 |
8,912,379 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5881:Eml3
|
UTSW |
19 |
8,910,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6011:Eml3
|
UTSW |
19 |
8,916,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Eml3
|
UTSW |
19 |
8,908,313 (GRCm39) |
missense |
probably benign |
|
|
R6777:Eml3
|
UTSW |
19 |
8,914,086 (GRCm39) |
missense |
probably benign |
|
|
R7132:Eml3
|
UTSW |
19 |
8,918,392 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7169:Eml3
|
UTSW |
19 |
8,910,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7896:Eml3
|
UTSW |
19 |
8,911,171 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8054:Eml3
|
UTSW |
19 |
8,916,414 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8354:Eml3
|
UTSW |
19 |
8,912,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8361:Eml3
|
UTSW |
19 |
8,914,801 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8454:Eml3
|
UTSW |
19 |
8,912,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Eml3
|
UTSW |
19 |
8,914,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Eml3
|
UTSW |
19 |
8,914,803 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Eml3
|
UTSW |
19 |
8,914,925 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTTTGGACACAGAGACCAG -3'
(R):5'- ATAAAACTGGAGTGCCCCTGG -3'
Sequencing Primer
(F):5'- CCAGAGAGATTGTATCCGATGTCAC -3'
(R):5'- CAAGAATTTGACAAGATGGCTACC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation