Incidental Mutation 'IGL01975:Mcrs1'
| ID |
182657 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mcrs1
|
| Ensembl Gene |
ENSMUSG00000037570 |
| Gene Name |
microspherule protein 1 |
| Synonyms |
MSP58, P78, C78274, ICP22BP |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01975
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99140698-99149838 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 99141559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041190]
[ENSMUST00000041415]
[ENSMUST00000163506]
[ENSMUST00000229671]
|
| AlphaFold |
Q99L90 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041190
|
| SMART Domains |
Protein: ENSMUSP00000043901
Gene: ENSMUSG00000037570
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
113 |
N/A |
INTRINSIC |
|
Pfam:MCRS_N
|
134 |
331 |
5.7e-98 |
PFAM |
|
FHA
|
362 |
419 |
2.04e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041415
|
| SMART Domains |
Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
20 |
88 |
3.94e0 |
SMART |
|
PAC
|
94 |
136 |
9.92e-6 |
SMART |
|
low complexity region
|
148 |
159 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
224 |
523 |
3.8e-34 |
PFAM |
|
Pfam:Ion_trans_2
|
453 |
517 |
1e-12 |
PFAM |
|
cNMP
|
593 |
708 |
2.04e-16 |
SMART |
|
low complexity region
|
781 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
857 |
872 |
N/A |
INTRINSIC |
|
coiled coil region
|
886 |
918 |
N/A |
INTRINSIC |
|
low complexity region
|
977 |
993 |
N/A |
INTRINSIC |
|
low complexity region
|
1022 |
1035 |
N/A |
INTRINSIC |
|
low complexity region
|
1054 |
1062 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163506
|
| SMART Domains |
Protein: ENSMUSP00000131407
Gene: ENSMUSG00000037570
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
100 |
N/A |
INTRINSIC |
|
Pfam:MCRS_N
|
121 |
318 |
2.4e-97 |
PFAM |
|
FHA
|
349 |
406 |
2.04e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229143
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229656
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229671
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230444
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230552
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
C |
T |
5: 8,217,396 (GRCm39) |
C133Y |
probably damaging |
Het |
| Akap3 |
G |
T |
6: 126,850,963 (GRCm39) |
S827I |
probably damaging |
Het |
| Arhgap20 |
C |
T |
9: 51,761,097 (GRCm39) |
Q947* |
probably null |
Het |
| Csf2rb2 |
A |
G |
15: 78,173,086 (GRCm39) |
I258T |
probably benign |
Het |
| Egln2 |
T |
C |
7: 26,859,745 (GRCm39) |
I323V |
possibly damaging |
Het |
| Erlin1 |
C |
A |
19: 44,025,370 (GRCm39) |
G348V |
probably damaging |
Het |
| Fbxo38 |
C |
T |
18: 62,648,484 (GRCm39) |
A685T |
probably damaging |
Het |
| Gm10272 |
G |
A |
10: 77,542,608 (GRCm39) |
C50Y |
probably damaging |
Het |
| Gm11559 |
G |
T |
11: 99,755,682 (GRCm39) |
Q110H |
unknown |
Het |
| Gpr75 |
T |
C |
11: 30,841,835 (GRCm39) |
S247P |
probably benign |
Het |
| Grid1 |
A |
T |
14: 35,045,383 (GRCm39) |
M409L |
probably benign |
Het |
| Herc3 |
A |
C |
6: 58,893,561 (GRCm39) |
D941A |
possibly damaging |
Het |
| Ilf3 |
T |
A |
9: 21,303,675 (GRCm39) |
S166T |
probably benign |
Het |
| Kcnu1 |
A |
C |
8: 26,424,525 (GRCm39) |
E273D |
probably benign |
Het |
| Kdm8 |
A |
G |
7: 125,051,529 (GRCm39) |
S41G |
probably benign |
Het |
| Ldlr |
G |
A |
9: 21,644,993 (GRCm39) |
V174I |
probably benign |
Het |
| Lpar5 |
T |
C |
6: 125,058,750 (GRCm39) |
L157P |
probably damaging |
Het |
| Ndst3 |
T |
A |
3: 123,395,163 (GRCm39) |
Y489F |
possibly damaging |
Het |
| Or6c69c |
A |
G |
10: 129,911,139 (GRCm39) |
I287V |
probably damaging |
Het |
| Palmd |
A |
T |
3: 116,717,283 (GRCm39) |
S405T |
probably benign |
Het |
| Ptger1 |
T |
C |
8: 84,396,149 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,680,602 (GRCm39) |
K1068M |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,874,712 (GRCm39) |
D293G |
probably benign |
Het |
| Rnf20 |
T |
A |
4: 49,654,473 (GRCm39) |
D843E |
probably benign |
Het |
| Rxfp1 |
A |
G |
3: 79,567,385 (GRCm39) |
S322P |
possibly damaging |
Het |
| Slc22a8 |
T |
A |
19: 8,582,775 (GRCm39) |
I152N |
probably damaging |
Het |
| Slc6a21 |
T |
A |
7: 44,937,275 (GRCm39) |
D268E |
probably benign |
Het |
| Sstr1 |
A |
G |
12: 58,260,412 (GRCm39) |
N345S |
probably benign |
Het |
| Stx17 |
T |
C |
4: 48,180,670 (GRCm39) |
S172P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,018,908 (GRCm39) |
|
probably benign |
Het |
| Tpte |
A |
G |
8: 22,839,353 (GRCm39) |
T467A |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,742,491 (GRCm39) |
|
probably null |
Het |
| Trav13-2 |
A |
T |
14: 53,872,823 (GRCm39) |
T100S |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,792,534 (GRCm39) |
|
probably benign |
Het |
| Wdr36 |
A |
G |
18: 32,985,541 (GRCm39) |
H486R |
probably damaging |
Het |
| Zswim5 |
T |
C |
4: 116,822,889 (GRCm39) |
I453T |
probably benign |
Het |
|
| Other mutations in Mcrs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01322:Mcrs1
|
APN |
15 |
99,141,266 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01338:Mcrs1
|
APN |
15 |
99,147,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4651001:Mcrs1
|
UTSW |
15 |
99,144,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0125:Mcrs1
|
UTSW |
15 |
99,142,608 (GRCm39) |
unclassified |
probably benign |
|
|
R0520:Mcrs1
|
UTSW |
15 |
99,146,336 (GRCm39) |
splice site |
probably null |
|
|
R0744:Mcrs1
|
UTSW |
15 |
99,141,330 (GRCm39) |
unclassified |
probably benign |
|
|
R0833:Mcrs1
|
UTSW |
15 |
99,141,330 (GRCm39) |
unclassified |
probably benign |
|
|
R0836:Mcrs1
|
UTSW |
15 |
99,141,330 (GRCm39) |
unclassified |
probably benign |
|
|
R2099:Mcrs1
|
UTSW |
15 |
99,147,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2133:Mcrs1
|
UTSW |
15 |
99,141,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4557:Mcrs1
|
UTSW |
15 |
99,141,028 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5425:Mcrs1
|
UTSW |
15 |
99,141,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5517:Mcrs1
|
UTSW |
15 |
99,144,876 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7129:Mcrs1
|
UTSW |
15 |
99,146,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8012:Mcrs1
|
UTSW |
15 |
99,147,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8015:Mcrs1
|
UTSW |
15 |
99,146,735 (GRCm39) |
nonsense |
probably null |
|
|
R8025:Mcrs1
|
UTSW |
15 |
99,144,814 (GRCm39) |
nonsense |
probably null |
|
|
R8171:Mcrs1
|
UTSW |
15 |
99,146,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Mcrs1
|
UTSW |
15 |
99,141,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8420:Mcrs1
|
UTSW |
15 |
99,141,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8486:Mcrs1
|
UTSW |
15 |
99,146,349 (GRCm39) |
nonsense |
probably null |
|
|
R8777:Mcrs1
|
UTSW |
15 |
99,141,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8777-TAIL:Mcrs1
|
UTSW |
15 |
99,141,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Mcrs1
|
UTSW |
15 |
99,146,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation