Incidental Mutation 'R5529:Shroom1'
ID |
433591 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shroom1
|
Ensembl Gene |
ENSMUSG00000018387 |
Gene Name |
shroom family member 1 |
Synonyms |
1300007L22Rik, Shrm1, Apx |
MMRRC Submission |
043087-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
R5529 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
53348032-53358593 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53354749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 223
(F223S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104641
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018531]
[ENSMUST00000093114]
[ENSMUST00000109013]
|
AlphaFold |
Q5SX79 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018531
AA Change: F223S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000018531 Gene: ENSMUSG00000018387 AA Change: F223S
Domain | Start | End | E-Value | Type |
Pfam:ASD1
|
108 |
269 |
1.1e-21 |
PFAM |
low complexity region
|
410 |
417 |
N/A |
INTRINSIC |
Pfam:ASD2
|
454 |
732 |
4.4e-83 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093114
AA Change: F223S
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000090802 Gene: ENSMUSG00000018387 AA Change: F223S
Domain | Start | End | E-Value | Type |
Pfam:ASD1
|
108 |
269 |
3.7e-22 |
PFAM |
low complexity region
|
473 |
480 |
N/A |
INTRINSIC |
Pfam:ASD2
|
517 |
715 |
1e-50 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000109010
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109013
AA Change: F223S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104641 Gene: ENSMUSG00000018387 AA Change: F223S
Domain | Start | End | E-Value | Type |
Pfam:ASD1
|
114 |
269 |
4.2e-19 |
PFAM |
low complexity region
|
473 |
480 |
N/A |
INTRINSIC |
Pfam:ASD2
|
518 |
795 |
2.4e-77 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141032
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146001
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155297
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 95.7%
- 20x: 92.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,304,040 (GRCm39) |
Y2079C |
probably damaging |
Het |
Alg2 |
T |
C |
4: 47,472,101 (GRCm39) |
R236G |
probably damaging |
Het |
Alpl |
T |
A |
4: 137,473,733 (GRCm39) |
N323I |
probably damaging |
Het |
Anxa3 |
A |
G |
5: 96,976,238 (GRCm39) |
E172G |
probably benign |
Het |
Atp8a2 |
A |
G |
14: 60,031,314 (GRCm39) |
|
probably null |
Het |
Cadps |
T |
C |
14: 12,454,285 (GRCm38) |
K1078E |
probably damaging |
Het |
Ccn5 |
T |
C |
2: 163,667,279 (GRCm39) |
|
probably null |
Het |
Ces2e |
G |
T |
8: 105,656,543 (GRCm39) |
V258L |
probably benign |
Het |
Daam2 |
A |
G |
17: 49,766,085 (GRCm39) |
F1041S |
probably benign |
Het |
Dcstamp |
A |
G |
15: 39,617,932 (GRCm39) |
I114V |
probably benign |
Het |
Ddhd2 |
C |
T |
8: 26,229,587 (GRCm39) |
R496Q |
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,714,126 (GRCm39) |
R1335S |
probably benign |
Het |
F12 |
T |
C |
13: 55,569,872 (GRCm39) |
N102S |
probably benign |
Het |
Fbn1 |
G |
A |
2: 125,215,870 (GRCm39) |
L712F |
probably benign |
Het |
Fgf1 |
G |
T |
18: 38,991,657 (GRCm39) |
F37L |
probably damaging |
Het |
Fgf14 |
T |
A |
14: 124,217,867 (GRCm39) |
H212L |
probably damaging |
Het |
Gm10036 |
A |
T |
18: 15,965,858 (GRCm39) |
Q3L |
probably benign |
Het |
Hivep1 |
T |
C |
13: 42,310,126 (GRCm39) |
F789L |
possibly damaging |
Het |
Hspg2 |
C |
A |
4: 137,279,139 (GRCm39) |
T3074N |
probably damaging |
Het |
Katnb1 |
C |
T |
8: 95,824,300 (GRCm39) |
R495C |
probably damaging |
Het |
Kdm5b |
C |
T |
1: 134,515,741 (GRCm39) |
H122Y |
probably damaging |
Het |
Ky |
C |
T |
9: 102,419,274 (GRCm39) |
S427L |
probably benign |
Het |
Med9 |
T |
G |
11: 59,851,486 (GRCm39) |
V105G |
probably benign |
Het |
Ndufa11 |
T |
A |
17: 57,028,059 (GRCm39) |
V43D |
probably damaging |
Het |
Nlrp4b |
T |
A |
7: 10,448,873 (GRCm39) |
C359S |
possibly damaging |
Het |
Or12k8 |
T |
A |
2: 36,974,921 (GRCm39) |
I280F |
possibly damaging |
Het |
Or51e1 |
A |
T |
7: 102,358,900 (GRCm39) |
K145* |
probably null |
Het |
Paxbp1 |
T |
A |
16: 90,827,401 (GRCm39) |
Y478F |
possibly damaging |
Het |
Pole |
G |
A |
5: 110,480,332 (GRCm39) |
E92K |
probably benign |
Het |
Prom1 |
G |
T |
5: 44,184,110 (GRCm39) |
L449M |
probably damaging |
Het |
Psg28 |
G |
A |
7: 18,164,373 (GRCm39) |
T113I |
probably benign |
Het |
Reln |
A |
C |
5: 22,137,713 (GRCm39) |
V2493G |
possibly damaging |
Het |
Rp1 |
C |
T |
1: 4,416,055 (GRCm39) |
V1686I |
probably benign |
Het |
Setbp1 |
T |
C |
18: 79,129,867 (GRCm39) |
I122V |
probably damaging |
Het |
Setd5 |
T |
C |
6: 113,098,529 (GRCm39) |
Y721H |
probably damaging |
Het |
Son |
T |
A |
16: 91,452,354 (GRCm39) |
L367Q |
probably damaging |
Het |
Spred2 |
G |
T |
11: 19,971,301 (GRCm39) |
D363Y |
probably damaging |
Het |
Tbc1d8 |
T |
G |
1: 39,411,836 (GRCm39) |
Y1000S |
probably benign |
Het |
Tdp2 |
A |
T |
13: 25,022,219 (GRCm39) |
K213* |
probably null |
Het |
Tmem89 |
T |
C |
9: 108,744,545 (GRCm39) |
I146T |
probably damaging |
Het |
Vhl |
T |
C |
6: 113,606,424 (GRCm39) |
V147A |
probably benign |
Het |
Vmn2r23 |
C |
T |
6: 123,690,410 (GRCm39) |
L429F |
probably benign |
Het |
Vrk2 |
T |
C |
11: 26,449,036 (GRCm39) |
D186G |
probably damaging |
Het |
Zbtb40 |
A |
G |
4: 136,710,474 (GRCm39) |
F1222L |
possibly damaging |
Het |
Zfp266 |
A |
G |
9: 20,418,030 (GRCm39) |
S7P |
probably damaging |
Het |
Zfp472 |
T |
A |
17: 33,197,407 (GRCm39) |
I494K |
possibly damaging |
Het |
Zfp655 |
A |
G |
5: 145,181,546 (GRCm39) |
E468G |
probably damaging |
Het |
|
Other mutations in Shroom1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Shroom1
|
APN |
11 |
53,354,921 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00985:Shroom1
|
APN |
11 |
53,356,796 (GRCm39) |
missense |
probably benign |
|
IGL01111:Shroom1
|
APN |
11 |
53,354,875 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01316:Shroom1
|
APN |
11 |
53,356,385 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02512:Shroom1
|
APN |
11 |
53,357,386 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03062:Shroom1
|
APN |
11 |
53,354,206 (GRCm39) |
missense |
probably benign |
|
bracket
|
UTSW |
11 |
53,354,809 (GRCm39) |
nonsense |
probably null |
|
shitake
|
UTSW |
11 |
53,356,549 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0083:Shroom1
|
UTSW |
11 |
53,357,764 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0108:Shroom1
|
UTSW |
11 |
53,357,764 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0108:Shroom1
|
UTSW |
11 |
53,357,764 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0242:Shroom1
|
UTSW |
11 |
53,356,312 (GRCm39) |
splice site |
probably null |
|
R0242:Shroom1
|
UTSW |
11 |
53,356,312 (GRCm39) |
splice site |
probably null |
|
R0357:Shroom1
|
UTSW |
11 |
53,356,035 (GRCm39) |
missense |
probably damaging |
0.96 |
R0661:Shroom1
|
UTSW |
11 |
53,357,764 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1875:Shroom1
|
UTSW |
11 |
53,356,502 (GRCm39) |
missense |
probably damaging |
0.99 |
R2356:Shroom1
|
UTSW |
11 |
53,357,274 (GRCm39) |
missense |
probably benign |
0.05 |
R4657:Shroom1
|
UTSW |
11 |
53,356,415 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4662:Shroom1
|
UTSW |
11 |
53,357,289 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4690:Shroom1
|
UTSW |
11 |
53,356,549 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4734:Shroom1
|
UTSW |
11 |
53,356,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R4820:Shroom1
|
UTSW |
11 |
53,355,966 (GRCm39) |
missense |
probably benign |
0.07 |
R4964:Shroom1
|
UTSW |
11 |
53,355,999 (GRCm39) |
missense |
probably benign |
|
R5000:Shroom1
|
UTSW |
11 |
53,357,944 (GRCm39) |
utr 3 prime |
probably benign |
|
R5046:Shroom1
|
UTSW |
11 |
53,354,872 (GRCm39) |
missense |
probably benign |
0.00 |
R5141:Shroom1
|
UTSW |
11 |
53,354,809 (GRCm39) |
nonsense |
probably null |
|
R5256:Shroom1
|
UTSW |
11 |
53,356,334 (GRCm39) |
missense |
probably benign |
0.32 |
R5273:Shroom1
|
UTSW |
11 |
53,354,671 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5762:Shroom1
|
UTSW |
11 |
53,354,818 (GRCm39) |
missense |
probably benign |
0.00 |
R6058:Shroom1
|
UTSW |
11 |
53,354,308 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6408:Shroom1
|
UTSW |
11 |
53,354,214 (GRCm39) |
missense |
probably benign |
0.00 |
R6677:Shroom1
|
UTSW |
11 |
53,354,343 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7090:Shroom1
|
UTSW |
11 |
53,356,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R7369:Shroom1
|
UTSW |
11 |
53,356,075 (GRCm39) |
missense |
probably benign |
0.43 |
R7654:Shroom1
|
UTSW |
11 |
53,357,735 (GRCm39) |
missense |
probably benign |
0.02 |
R7919:Shroom1
|
UTSW |
11 |
53,354,220 (GRCm39) |
missense |
probably benign |
0.17 |
R7964:Shroom1
|
UTSW |
11 |
53,355,149 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8338:Shroom1
|
UTSW |
11 |
53,354,107 (GRCm39) |
missense |
probably benign |
0.08 |
R8365:Shroom1
|
UTSW |
11 |
53,356,468 (GRCm39) |
nonsense |
probably null |
|
R8386:Shroom1
|
UTSW |
11 |
53,357,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R8971:Shroom1
|
UTSW |
11 |
53,355,994 (GRCm39) |
missense |
probably damaging |
0.99 |
R9116:Shroom1
|
UTSW |
11 |
53,354,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R9392:Shroom1
|
UTSW |
11 |
53,354,674 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9410:Shroom1
|
UTSW |
11 |
53,354,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R9577:Shroom1
|
UTSW |
11 |
53,357,612 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAAAGGAGTTTCGCATGAGC -3'
(R):5'- TGAAACACTCTGACTCCGAC -3'
Sequencing Primer
(F):5'- AGTTTCGCATGAGCCTGCC -3'
(R):5'- ATTGCCAAGATCCGCTGG -3'
|
Posted On |
2016-10-06 |