Incidental Mutation 'IGL02512:Shroom1'
ID 296580
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shroom1
Ensembl Gene ENSMUSG00000018387
Gene Name shroom family member 1
Synonyms 1300007L22Rik, Shrm1, Apx
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # IGL02512
Quality Score
Status
Chromosome 11
Chromosomal Location 53348032-53358593 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53357386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 683 (V683E)
Ref Sequence ENSEMBL: ENSMUSP00000104641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018531] [ENSMUST00000057722] [ENSMUST00000093114] [ENSMUST00000109013]
AlphaFold Q5SX79
Predicted Effect probably damaging
Transcript: ENSMUST00000018531
AA Change: V620E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018531
Gene: ENSMUSG00000018387
AA Change: V620E

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000057722
Predicted Effect probably damaging
Transcript: ENSMUST00000093114
AA Change: V683E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090802
Gene: ENSMUSG00000018387
AA Change: V683E

DomainStartEndE-ValueType
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: V683E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104641
Gene: ENSMUSG00000018387
AA Change: V683E

DomainStartEndE-ValueType
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: ENSMUST00000155297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146001
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b C A 15: 90,111,752 (GRCm39) H199N probably benign Het
Ankrd13a T A 5: 114,924,827 (GRCm39) M104K probably benign Het
Ankrd37 A G 8: 46,452,325 (GRCm39) L48P probably damaging Het
Ankzf1 T A 1: 75,169,222 (GRCm39) L43M probably damaging Het
Ano10 A C 9: 122,101,540 (GRCm39) V77G possibly damaging Het
Arg2 G A 12: 79,194,517 (GRCm39) V114I probably benign Het
Asah1 A C 8: 41,813,344 (GRCm39) probably benign Het
Clpx A C 9: 65,217,533 (GRCm39) I34L probably benign Het
Cnga2 G A X: 71,052,531 (GRCm39) V469I probably damaging Het
Dock9 A T 14: 121,856,950 (GRCm39) probably benign Het
Eaf1 A G 14: 31,219,743 (GRCm39) T61A possibly damaging Het
Exoc3l T A 8: 106,017,115 (GRCm39) D624V probably damaging Het
Fancd2 A G 6: 113,547,904 (GRCm39) D927G probably damaging Het
Fbn1 A T 2: 125,180,380 (GRCm39) Y1801N probably damaging Het
Garnl3 A G 2: 32,921,150 (GRCm39) Y292H probably damaging Het
Gpr174 A T X: 106,336,577 (GRCm39) K130* probably null Het
Greb1 C T 12: 16,742,713 (GRCm39) V1379I possibly damaging Het
Grik2 A T 10: 49,232,008 (GRCm39) D507E probably benign Het
Gsn A T 2: 35,173,962 (GRCm39) K24* probably null Het
Ift80 A G 3: 68,835,058 (GRCm39) probably null Het
Inpp5j T A 11: 3,449,661 (GRCm39) Y707F probably damaging Het
Ints13 A T 6: 146,477,855 (GRCm39) D31E probably damaging Het
Kcnh1 T C 1: 192,187,689 (GRCm39) F717L possibly damaging Het
Klhdc8a T C 1: 132,230,895 (GRCm39) probably null Het
Klkb1 G A 8: 45,729,277 (GRCm39) probably benign Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Msh6 T C 17: 88,292,160 (GRCm39) V305A probably benign Het
Myo6 T A 9: 80,199,801 (GRCm39) probably null Het
Nampt T A 12: 32,880,268 (GRCm39) Y54N possibly damaging Het
Neurog2 G T 3: 127,427,504 (GRCm39) E43* probably null Het
Obscn C T 11: 58,919,343 (GRCm39) R6887H probably damaging Het
Or10ag58 A G 2: 87,265,402 (GRCm39) I190M possibly damaging Het
Or5ac25 T C 16: 59,182,171 (GRCm39) N137D possibly damaging Het
Or6c203 A G 10: 129,010,119 (GRCm39) I257T possibly damaging Het
Pdss1 A G 2: 22,802,658 (GRCm39) I166V probably damaging Het
Phaf1 G A 8: 105,961,110 (GRCm39) probably benign Het
Ptpn21 T C 12: 98,645,651 (GRCm39) T1096A probably benign Het
Reln A G 5: 22,245,425 (GRCm39) Y728H probably benign Het
Sec31a T C 5: 100,555,052 (GRCm39) D56G probably damaging Het
Slc5a11 A G 7: 122,864,478 (GRCm39) D358G probably damaging Het
Slfn3 T A 11: 83,103,851 (GRCm39) S241T possibly damaging Het
Slitrk3 G A 3: 72,957,735 (GRCm39) P346S probably benign Het
Specc1 T A 11: 62,009,215 (GRCm39) S324T probably damaging Het
Sptlc3 T C 2: 139,389,123 (GRCm39) Y168H probably damaging Het
St3gal6 C T 16: 58,293,822 (GRCm39) E236K probably benign Het
Tet2 A T 3: 133,175,069 (GRCm39) M1426K probably benign Het
Tinag A T 9: 76,939,069 (GRCm39) probably benign Het
Tjp1 A G 7: 64,993,415 (GRCm39) S53P probably damaging Het
Uimc1 T C 13: 55,188,431 (GRCm39) T543A possibly damaging Het
Wdfy4 A G 14: 32,764,448 (GRCm39) W2147R probably benign Het
Zmym1 C T 4: 126,942,465 (GRCm39) C641Y probably damaging Het
Other mutations in Shroom1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5529:Shroom1 UTSW 11 53,354,749 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16