Incidental Mutation 'R9493:Megf11'
| ID |
717064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Megf11
|
| Ensembl Gene |
ENSMUSG00000036466 |
| Gene Name |
multiple EGF-like-domains 11 |
| Synonyms |
2410080H04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R9493 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
64292908-64616487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64547376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 209
(H209L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068967]
[ENSMUST00000093829]
[ENSMUST00000118485]
[ENSMUST00000164113]
|
| AlphaFold |
Q80T91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068967
AA Change: H240L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000065353
Gene: ENSMUSG00000036466
AA Change: H240L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
84 |
N/A |
INTRINSIC |
|
EGF
|
101 |
129 |
1.85e0 |
SMART |
|
EGF_Lam
|
145 |
184 |
9.55e-3 |
SMART |
|
EGF_Lam
|
188 |
227 |
2e-5 |
SMART |
|
EGF
|
226 |
258 |
5.57e-4 |
SMART |
|
EGF_Lam
|
274 |
313 |
1.26e-2 |
SMART |
|
EGF_Lam
|
317 |
357 |
2.52e-2 |
SMART |
|
EGF_Lam
|
361 |
402 |
4.16e-3 |
SMART |
|
EGF
|
401 |
433 |
6.21e-2 |
SMART |
|
EGF
|
444 |
476 |
4.1e-2 |
SMART |
|
EGF
|
487 |
519 |
7.02e-1 |
SMART |
|
EGF_Lam
|
535 |
574 |
1.43e-1 |
SMART |
|
EGF_Lam
|
578 |
617 |
5.04e-2 |
SMART |
|
EGF
|
616 |
650 |
8.52e0 |
SMART |
|
EGF
|
661 |
693 |
9.41e-2 |
SMART |
|
EGF
|
704 |
736 |
8.52e0 |
SMART |
|
EGF_Lam
|
752 |
791 |
2.99e-4 |
SMART |
|
EGF
|
790 |
822 |
1.14e0 |
SMART |
|
transmembrane domain
|
848 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
895 |
909 |
N/A |
INTRINSIC |
|
low complexity region
|
1022 |
1037 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093829
AA Change: H209L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091349
Gene: ENSMUSG00000036466
AA Change: H209L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
84 |
N/A |
INTRINSIC |
|
EGF_Lam
|
114 |
153 |
9.55e-3 |
SMART |
|
EGF_Lam
|
157 |
196 |
2e-5 |
SMART |
|
EGF
|
195 |
227 |
5.57e-4 |
SMART |
|
EGF_Lam
|
243 |
282 |
1.26e-2 |
SMART |
|
EGF_Lam
|
286 |
326 |
2.52e-2 |
SMART |
|
EGF_Lam
|
330 |
371 |
4.16e-3 |
SMART |
|
EGF
|
370 |
402 |
6.21e-2 |
SMART |
|
EGF
|
413 |
445 |
4.1e-2 |
SMART |
|
EGF
|
456 |
488 |
7.02e-1 |
SMART |
|
EGF_Lam
|
504 |
543 |
1.43e-1 |
SMART |
|
EGF_Lam
|
547 |
586 |
5.04e-2 |
SMART |
|
EGF
|
585 |
619 |
8.52e0 |
SMART |
|
EGF
|
630 |
662 |
9.41e-2 |
SMART |
|
EGF_Lam
|
678 |
717 |
2.99e-4 |
SMART |
|
EGF
|
716 |
748 |
1.14e0 |
SMART |
|
transmembrane domain
|
774 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
835 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118485
AA Change: H240L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114035
Gene: ENSMUSG00000036466
AA Change: H240L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
84 |
N/A |
INTRINSIC |
|
EGF
|
101 |
129 |
1.85e0 |
SMART |
|
EGF_Lam
|
145 |
184 |
9.55e-3 |
SMART |
|
EGF_Lam
|
188 |
227 |
2e-5 |
SMART |
|
EGF
|
226 |
258 |
5.57e-4 |
SMART |
|
EGF_Lam
|
274 |
313 |
1.26e-2 |
SMART |
|
EGF_Lam
|
317 |
357 |
2.52e-2 |
SMART |
|
EGF_Lam
|
361 |
402 |
4.16e-3 |
SMART |
|
EGF
|
401 |
433 |
6.21e-2 |
SMART |
|
EGF
|
444 |
476 |
4.1e-2 |
SMART |
|
EGF
|
487 |
519 |
7.02e-1 |
SMART |
|
EGF_Lam
|
535 |
574 |
1.43e-1 |
SMART |
|
EGF_Lam
|
578 |
617 |
5.04e-2 |
SMART |
|
EGF
|
616 |
650 |
8.52e0 |
SMART |
|
EGF
|
661 |
693 |
9.41e-2 |
SMART |
|
EGF
|
704 |
736 |
8.52e0 |
SMART |
|
EGF_Lam
|
752 |
791 |
2.99e-4 |
SMART |
|
EGF
|
790 |
822 |
1.14e0 |
SMART |
|
transmembrane domain
|
848 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
926 |
941 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164113
AA Change: H240L
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128672
Gene: ENSMUSG00000036466
AA Change: H240L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
84 |
N/A |
INTRINSIC |
|
EGF
|
101 |
129 |
1.85e0 |
SMART |
|
EGF_Lam
|
145 |
184 |
9.55e-3 |
SMART |
|
EGF_Lam
|
188 |
227 |
2e-5 |
SMART |
|
EGF
|
226 |
258 |
5.57e-4 |
SMART |
|
EGF_Lam
|
274 |
313 |
1.26e-2 |
SMART |
|
EGF_Lam
|
317 |
357 |
2.52e-2 |
SMART |
|
EGF_Lam
|
361 |
402 |
4.16e-3 |
SMART |
|
EGF
|
401 |
433 |
6.21e-2 |
SMART |
|
EGF
|
444 |
476 |
4.1e-2 |
SMART |
|
EGF
|
487 |
519 |
7.02e-1 |
SMART |
|
EGF_Lam
|
535 |
574 |
1.43e-1 |
SMART |
|
EGF_Lam
|
578 |
617 |
5.04e-2 |
SMART |
|
EGF
|
616 |
650 |
8.52e0 |
SMART |
|
EGF
|
661 |
693 |
9.41e-2 |
SMART |
|
EGF_Lam
|
709 |
748 |
2.99e-4 |
SMART |
|
EGF
|
747 |
779 |
1.14e0 |
SMART |
|
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
866 |
N/A |
INTRINSIC |
|
low complexity region
|
979 |
994 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele exhibit abnormal spacing of horizontal cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,838,191 (GRCm39) |
Y799H |
probably damaging |
Het |
| Akap5 |
G |
A |
12: 76,375,041 (GRCm39) |
A158T |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,286,434 (GRCm39) |
K689E |
probably benign |
Het |
| Arid1b |
G |
A |
17: 5,046,423 (GRCm39) |
A404T |
unknown |
Het |
| Bltp1 |
A |
G |
3: 37,065,885 (GRCm39) |
N53S |
|
Het |
| Camk2b |
T |
A |
11: 5,929,711 (GRCm39) |
D396V |
probably damaging |
Het |
| Cd53 |
T |
A |
3: 106,674,683 (GRCm39) |
D128V |
probably null |
Het |
| Cdk15 |
G |
T |
1: 59,326,943 (GRCm39) |
R208L |
probably damaging |
Het |
| Celsr1 |
T |
G |
15: 85,785,346 (GRCm39) |
K2963Q |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,301,074 (GRCm39) |
S2740P |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,632,964 (GRCm39) |
L162H |
probably damaging |
Het |
| Cntn1 |
A |
T |
15: 92,189,644 (GRCm39) |
T656S |
probably damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Dpy19l2 |
A |
G |
9: 24,530,459 (GRCm39) |
Y507H |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,122,752 (GRCm39) |
C57* |
probably null |
Het |
| Gramd1b |
A |
G |
9: 40,217,689 (GRCm39) |
Y621H |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,556,522 (GRCm39) |
C739S |
probably benign |
Het |
| Il1rap |
T |
C |
16: 26,541,702 (GRCm39) |
S648P |
probably benign |
Het |
| Ints5 |
C |
T |
19: 8,872,686 (GRCm39) |
T215I |
probably damaging |
Het |
| Itm2c |
T |
C |
1: 85,834,255 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
T |
A |
14: 102,137,907 (GRCm39) |
S870T |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,015,548 (GRCm39) |
F1288I |
probably damaging |
Het |
| Mtss1 |
C |
T |
15: 58,926,869 (GRCm39) |
R69H |
probably damaging |
Het |
| Nms |
A |
T |
1: 38,980,982 (GRCm39) |
H56L |
probably benign |
Het |
| Or4f54 |
G |
A |
2: 111,122,736 (GRCm39) |
G41D |
probably damaging |
Het |
| Or4k36 |
C |
T |
2: 111,146,288 (GRCm39) |
H155Y |
probably damaging |
Het |
| Or56a5 |
A |
T |
7: 104,793,497 (GRCm39) |
M7K |
possibly damaging |
Het |
| Or5t17 |
T |
C |
2: 86,833,140 (GRCm39) |
S276P |
probably benign |
Het |
| Pds5a |
G |
A |
5: 65,792,747 (GRCm39) |
R729W |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,639,598 (GRCm39) |
R93* |
probably null |
Het |
| Rapgef2 |
G |
A |
3: 79,019,495 (GRCm39) |
L59F |
probably damaging |
Het |
| Rtn4 |
G |
A |
11: 29,691,011 (GRCm39) |
V1101I |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,509,021 (GRCm39) |
V653F |
probably damaging |
Het |
| Slc10a2 |
A |
G |
8: 5,139,047 (GRCm39) |
V299A |
|
Het |
| Slc6a15 |
A |
G |
10: 103,229,277 (GRCm39) |
I105M |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,833,395 (GRCm39) |
V209A |
|
Het |
| Snapc2 |
A |
G |
8: 4,304,591 (GRCm39) |
E115G |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,199,529 (GRCm39) |
E592G |
possibly damaging |
Het |
| Spmip6 |
G |
A |
4: 41,508,614 (GRCm39) |
P17L |
|
Het |
| Styxl2 |
T |
A |
1: 165,926,410 (GRCm39) |
K1067N |
probably damaging |
Het |
| Tcl1b1 |
A |
T |
12: 105,130,823 (GRCm39) |
Q102L |
probably damaging |
Het |
| Tmc1 |
T |
A |
19: 20,801,644 (GRCm39) |
N461Y |
probably benign |
Het |
| Trim59 |
C |
A |
3: 68,945,134 (GRCm39) |
G69C |
probably damaging |
Het |
| Tubg1 |
A |
G |
11: 101,017,003 (GRCm39) |
Y435C |
probably damaging |
Het |
| Ucp3 |
A |
C |
7: 100,131,911 (GRCm39) |
H254P |
probably benign |
Het |
| Vav2 |
T |
C |
2: 27,157,276 (GRCm39) |
D842G |
probably damaging |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,423 (GRCm39) |
L68H |
probably damaging |
Het |
| Wee2 |
A |
G |
6: 40,421,057 (GRCm39) |
E49G |
probably benign |
Het |
| Zfr |
A |
G |
15: 12,180,706 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Megf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Megf11
|
APN |
9 |
64,416,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01285:Megf11
|
APN |
9 |
64,567,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01309:Megf11
|
APN |
9 |
64,588,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01953:Megf11
|
APN |
9 |
64,597,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02341:Megf11
|
APN |
9 |
64,451,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02407:Megf11
|
APN |
9 |
64,587,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02621:Megf11
|
APN |
9 |
64,601,214 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0277:Megf11
|
UTSW |
9 |
64,598,632 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0386:Megf11
|
UTSW |
9 |
64,547,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1354:Megf11
|
UTSW |
9 |
64,560,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1709:Megf11
|
UTSW |
9 |
64,602,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Megf11
|
UTSW |
9 |
64,587,581 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1895:Megf11
|
UTSW |
9 |
64,586,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Megf11
|
UTSW |
9 |
64,586,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2221:Megf11
|
UTSW |
9 |
64,567,713 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2223:Megf11
|
UTSW |
9 |
64,567,713 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3552:Megf11
|
UTSW |
9 |
64,602,745 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4641:Megf11
|
UTSW |
9 |
64,597,407 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4746:Megf11
|
UTSW |
9 |
64,416,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Megf11
|
UTSW |
9 |
64,593,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5716:Megf11
|
UTSW |
9 |
64,413,392 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5898:Megf11
|
UTSW |
9 |
64,593,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Megf11
|
UTSW |
9 |
64,567,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6372:Megf11
|
UTSW |
9 |
64,613,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6811:Megf11
|
UTSW |
9 |
64,451,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6868:Megf11
|
UTSW |
9 |
64,587,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Megf11
|
UTSW |
9 |
64,613,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6984:Megf11
|
UTSW |
9 |
64,593,734 (GRCm39) |
missense |
probably benign |
|
|
R7155:Megf11
|
UTSW |
9 |
64,555,233 (GRCm39) |
missense |
probably null |
1.00 |
|
R7638:Megf11
|
UTSW |
9 |
64,586,535 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7643:Megf11
|
UTSW |
9 |
64,613,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7688:Megf11
|
UTSW |
9 |
64,599,146 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7840:Megf11
|
UTSW |
9 |
64,602,709 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8744:Megf11
|
UTSW |
9 |
64,451,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8799:Megf11
|
UTSW |
9 |
64,588,673 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9383:Megf11
|
UTSW |
9 |
64,545,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9797:Megf11
|
UTSW |
9 |
64,545,591 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
V5088:Megf11
|
UTSW |
9 |
64,597,351 (GRCm39) |
nonsense |
probably null |
|
|
V5622:Megf11
|
UTSW |
9 |
64,597,351 (GRCm39) |
nonsense |
probably null |
|
|
V5622:Megf11
|
UTSW |
9 |
64,597,351 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Megf11
|
UTSW |
9 |
64,567,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Megf11
|
UTSW |
9 |
64,587,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCATGCTTACAGATGGTGGG -3'
(R):5'- ACCTGGGACTCTTCACTGCTAG -3'
Sequencing Primer
(F):5'- GGTTGCTGATGTCACCCACAC -3'
(R):5'- TGCCCACCTAGATCTTGA -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation