Incidental Mutation 'R7100:Mid1'
| ID |
550796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mid1
|
| Ensembl Gene |
ENSMUSG00000035299 |
| Gene Name |
midline 1 |
| Synonyms |
Fxy, Trim18, 61B3-R, DXHXS1141 |
| MMRRC Submission |
045192-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7100 (G1)
|
| Quality Score |
99.0078 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
168468178-168773794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 168768073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 407
(D407G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036753]
[ENSMUST00000078947]
[ENSMUST00000079443]
[ENSMUST00000112104]
[ENSMUST00000112105]
[ENSMUST00000112107]
[ENSMUST00000163810]
[ENSMUST00000171433]
|
| AlphaFold |
O70583 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036753
AA Change: D407G
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000038765
Gene: ENSMUSG00000035299
AA Change: D407G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
10 |
59 |
4.41e-6 |
SMART |
|
BBOX
|
114 |
164 |
2.8e-8 |
SMART |
|
BBOX
|
170 |
212 |
9.8e-13 |
SMART |
|
BBC
|
219 |
345 |
1.5e-16 |
SMART |
|
FN3
|
381 |
485 |
1.53e-6 |
SMART |
|
Pfam:PRY
|
499 |
548 |
7.3e-11 |
PFAM |
|
SPRY
|
551 |
670 |
1.12e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078947
AA Change: D369G
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000077974
Gene: ENSMUSG00000035299
AA Change: D369G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
10 |
59 |
4.41e-6 |
SMART |
|
BBOX
|
114 |
164 |
2.8e-8 |
SMART |
|
BBC
|
181 |
307 |
1.47e-15 |
SMART |
|
FN3
|
343 |
447 |
1.53e-6 |
SMART |
|
Pfam:PRY
|
461 |
510 |
2.6e-11 |
PFAM |
|
SPRY
|
513 |
632 |
1.12e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079443
AA Change: D140G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078412
Gene: ENSMUSG00000035299
AA Change: D140G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Blast:BBC
|
21 |
78 |
1e-29 |
BLAST |
|
FN3
|
114 |
205 |
1.91e-7 |
SMART |
|
Pfam:PRY
|
219 |
268 |
5.1e-11 |
PFAM |
|
SPRY
|
271 |
390 |
1.12e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112104
AA Change: D407G
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107732
Gene: ENSMUSG00000035299
AA Change: D407G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
10 |
59 |
4.41e-6 |
SMART |
|
BBOX
|
114 |
164 |
2.8e-8 |
SMART |
|
BBOX
|
170 |
212 |
9.8e-13 |
SMART |
|
BBC
|
219 |
345 |
1.5e-16 |
SMART |
|
FN3
|
381 |
485 |
1.53e-6 |
SMART |
|
Pfam:PRY
|
499 |
548 |
7.3e-11 |
PFAM |
|
SPRY
|
551 |
670 |
1.12e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112105
AA Change: D407G
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107733
Gene: ENSMUSG00000035299
AA Change: D407G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
10 |
59 |
4.41e-6 |
SMART |
|
BBOX
|
114 |
164 |
2.8e-8 |
SMART |
|
BBOX
|
170 |
212 |
9.8e-13 |
SMART |
|
BBC
|
219 |
345 |
1.5e-16 |
SMART |
|
FN3
|
381 |
485 |
1.53e-6 |
SMART |
|
Pfam:PRY
|
499 |
548 |
9.4e-12 |
PFAM |
|
SPRY
|
551 |
670 |
1.12e-31 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112107
AA Change: D201G
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107735
Gene: ENSMUSG00000035299
AA Change: D201G
| Domain | Start | End | E-Value | Type |
|---|
|
BBC
|
13 |
139 |
5.05e-14 |
SMART |
|
FN3
|
175 |
279 |
1.53e-6 |
SMART |
|
Pfam:PRY
|
293 |
342 |
1.7e-11 |
PFAM |
|
SPRY
|
345 |
464 |
1.12e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163810
AA Change: D407G
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128176
Gene: ENSMUSG00000035299
AA Change: D407G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
10 |
59 |
4.41e-6 |
SMART |
|
BBOX
|
114 |
164 |
2.8e-8 |
SMART |
|
BBOX
|
170 |
212 |
9.8e-13 |
SMART |
|
BBC
|
219 |
345 |
1.5e-16 |
SMART |
|
FN3
|
381 |
485 |
1.53e-6 |
SMART |
|
Pfam:PRY
|
499 |
548 |
7.3e-11 |
PFAM |
|
SPRY
|
551 |
670 |
1.12e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171433
AA Change: D407G
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126746
Gene: ENSMUSG00000035299
AA Change: D407G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
10 |
59 |
4.41e-6 |
SMART |
|
BBOX
|
114 |
164 |
2.8e-8 |
SMART |
|
BBOX
|
170 |
212 |
9.8e-13 |
SMART |
|
BBC
|
219 |
345 |
1.5e-16 |
SMART |
|
FN3
|
381 |
485 |
1.53e-6 |
SMART |
|
Pfam:PRY
|
499 |
548 |
7.3e-11 |
PFAM |
|
SPRY
|
551 |
670 |
1.12e-31 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous or hemizygous for disruptions in this gene have a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl10 |
A |
G |
2: 154,394,315 (GRCm39) |
E89G |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,419,016 (GRCm39) |
V5993E |
probably damaging |
Het |
| Amdhd1 |
T |
C |
10: 93,372,936 (GRCm39) |
|
probably null |
Het |
| Amph |
T |
C |
13: 19,334,011 (GRCm39) |
*691Q |
probably null |
Het |
| Ankrd55 |
A |
G |
13: 112,492,644 (GRCm39) |
K272E |
probably benign |
Het |
| Arhgef10l |
C |
T |
4: 140,244,126 (GRCm39) |
V838I |
possibly damaging |
Het |
| Arl2 |
C |
A |
19: 6,184,774 (GRCm39) |
V160F |
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,412,297 (GRCm39) |
V128A |
possibly damaging |
Het |
| Cdk11b |
T |
A |
4: 155,710,050 (GRCm39) |
L17H |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,480,314 (GRCm39) |
N1391K |
possibly damaging |
Het |
| Cpxm2 |
C |
T |
7: 131,656,544 (GRCm39) |
A573T |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,455,501 (GRCm39) |
F516I |
|
Het |
| Daxx |
T |
C |
17: 34,130,416 (GRCm39) |
S144P |
probably damaging |
Het |
| Dpp3 |
T |
C |
19: 4,968,069 (GRCm39) |
D303G |
probably damaging |
Het |
| Fam181a |
T |
A |
12: 103,282,132 (GRCm39) |
N12K |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,111,018 (GRCm39) |
R1015S |
unknown |
Het |
| Fstl5 |
A |
G |
3: 76,443,600 (GRCm39) |
H315R |
probably benign |
Het |
| Fut4 |
A |
G |
9: 14,662,689 (GRCm39) |
S202P |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,708 (GRCm39) |
D637G |
possibly damaging |
Het |
| Gstcd |
G |
T |
3: 132,790,704 (GRCm39) |
T21K |
probably benign |
Het |
| Heca |
C |
T |
10: 17,791,121 (GRCm39) |
V312M |
probably benign |
Het |
| Herpud1 |
A |
G |
8: 95,117,475 (GRCm39) |
R144G |
probably damaging |
Het |
| Hycc2 |
T |
A |
1: 58,573,653 (GRCm39) |
T384S |
possibly damaging |
Het |
| Ino80 |
A |
G |
2: 119,204,994 (GRCm39) |
S1511P |
possibly damaging |
Het |
| Irf2bp2 |
T |
C |
8: 127,318,472 (GRCm39) |
T365A |
probably benign |
Het |
| Klk1 |
G |
A |
7: 43,878,848 (GRCm39) |
G214E |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,715,701 (GRCm39) |
N1719I |
possibly damaging |
Het |
| Lmna |
A |
G |
3: 88,392,297 (GRCm39) |
I365T |
probably damaging |
Het |
| Lrp8 |
C |
A |
4: 107,659,647 (GRCm39) |
A13E |
possibly damaging |
Het |
| Ly75 |
A |
G |
2: 60,136,778 (GRCm39) |
L1483P |
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,533,971 (GRCm39) |
D550G |
probably damaging |
Het |
| Mpl |
G |
T |
4: 118,314,607 (GRCm39) |
A21E |
|
Het |
| Mus81 |
C |
T |
19: 5,534,239 (GRCm39) |
G360S |
probably damaging |
Het |
| Nmt2 |
T |
A |
2: 3,313,950 (GRCm39) |
S250T |
probably benign |
Het |
| Nr1d1 |
C |
A |
11: 98,662,160 (GRCm39) |
R158L |
probably damaging |
Het |
| Pcgf6 |
G |
A |
19: 47,039,153 (GRCm39) |
P36S |
unknown |
Het |
| Pcnx2 |
G |
A |
8: 126,485,853 (GRCm39) |
A1915V |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,166,677 (GRCm39) |
V417A |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,476,689 (GRCm39) |
N262S |
probably benign |
Het |
| Plaat5 |
T |
A |
19: 7,616,923 (GRCm39) |
F313I |
unknown |
Het |
| Ppp2r5d |
A |
G |
17: 46,996,608 (GRCm39) |
V355A |
probably benign |
Het |
| Rasa3 |
T |
C |
8: 13,636,897 (GRCm39) |
T395A |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,416,697 (GRCm39) |
I432F |
probably benign |
Het |
| Rnf123 |
C |
T |
9: 107,933,838 (GRCm39) |
C1080Y |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,204,570 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
T |
A |
7: 143,964,901 (GRCm39) |
D836E |
possibly damaging |
Het |
| Slc24a5 |
A |
C |
2: 124,922,591 (GRCm39) |
S118R |
probably damaging |
Het |
| Smg1 |
G |
T |
7: 117,783,743 (GRCm39) |
H1048N |
unknown |
Het |
| Specc1l |
T |
G |
10: 75,081,329 (GRCm39) |
S242A |
probably benign |
Het |
| Tagap1 |
A |
T |
17: 7,224,111 (GRCm39) |
L195Q |
possibly damaging |
Het |
| Trpc3 |
C |
A |
3: 36,704,216 (GRCm39) |
E580D |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,541,166 (GRCm39) |
V33940E |
probably benign |
Het |
| Upp2 |
G |
T |
2: 58,681,817 (GRCm39) |
R318L |
probably benign |
Het |
| Vezt |
T |
A |
10: 93,832,795 (GRCm39) |
E205D |
probably benign |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,535 (GRCm39) |
F114L |
probably benign |
Het |
| Vmn2r53 |
C |
A |
7: 12,315,513 (GRCm39) |
E769* |
probably null |
Het |
| Vnn3 |
T |
C |
10: 23,741,840 (GRCm39) |
Y382H |
probably damaging |
Het |
|
| Other mutations in Mid1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02590:Mid1
|
APN |
X |
168,710,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
LCD18:Mid1
|
UTSW |
X |
168,788,560 (GRCm39) |
unclassified |
probably benign |
|
|
R1317:Mid1
|
UTSW |
X |
168,769,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1364:Mid1
|
UTSW |
X |
168,769,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1366:Mid1
|
UTSW |
X |
168,769,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4452:Mid1
|
UTSW |
X |
168,710,421 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4678:Mid1
|
UTSW |
X |
168,768,044 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7554:Mid1
|
UTSW |
X |
168,769,010 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8510:Mid1
|
UTSW |
X |
168,768,019 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8979:Mid1
|
UTSW |
X |
168,768,009 (GRCm39) |
missense |
probably benign |
|
|
R8979:Mid1
|
UTSW |
X |
168,768,003 (GRCm39) |
missense |
probably benign |
|
|
R9322:Mid1
|
UTSW |
X |
168,768,003 (GRCm39) |
missense |
probably benign |
|
|
R9650:Mid1
|
UTSW |
X |
168,768,003 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTAGACGGCTAAGCGCTC -3'
(R):5'- AGCATTATCCATTCCTTGAACAGG -3'
Sequencing Primer
(F):5'- CCTGTTAGTAAATGTGCTAGACCTG -3'
(R):5'- AGAGAAGCCGATAAATATTGTCATC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation