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) question?
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

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 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

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: F223S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104641
Gene: ENSMUSG00000018387
AA Change: F223S

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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