Incidental Mutation 'R4820:Shroom1'
ID 370157
Institutional Source Beutler Lab
Gene Symbol Shroom1
Ensembl Gene ENSMUSG00000018387
Gene Name shroom family member 1
Synonyms 1300007L22Rik, Shrm1, Apx
MMRRC Submission 042436-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R4820 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 53348032-53358593 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53355966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 339 (V339I)
Ref Sequence ENSEMBL: ENSMUSP00000104641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018531] [ENSMUST00000057722] [ENSMUST00000093114] [ENSMUST00000109013]
AlphaFold Q5SX79
Predicted Effect probably benign
Transcript: ENSMUST00000018531
SMART Domains Protein: ENSMUSP00000018531
Gene: ENSMUSG00000018387

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 benign
Transcript: ENSMUST00000093114
AA Change: V339I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000090802
Gene: ENSMUSG00000018387
AA Change: V339I

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 benign
Transcript: ENSMUST00000109013
AA Change: V339I

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104641
Gene: ENSMUSG00000018387
AA Change: V339I

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 96% (104/108)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930488N24Rik T C 17: 14,326,481 (GRCm39) noncoding transcript Het
5730455P16Rik A T 11: 80,266,346 (GRCm39) S132T possibly damaging Het
Aadacl3 T A 4: 144,184,527 (GRCm39) H77L probably damaging Het
Actr5 T A 2: 158,467,426 (GRCm39) V122D probably damaging Het
Adamts7 A G 9: 90,071,739 (GRCm39) D678G possibly damaging Het
Alpk1 T A 3: 127,464,708 (GRCm39) D1190V probably benign Het
Apbb1ip A T 2: 22,765,265 (GRCm39) N649Y unknown Het
Atp6v0a1 A G 11: 100,933,776 (GRCm39) I522V probably benign Het
Brd10 T C 19: 29,695,809 (GRCm39) N1228S possibly damaging Het
Cars1 T C 7: 143,124,301 (GRCm39) D375G probably damaging Het
Catspere1 A T 1: 177,687,441 (GRCm39) noncoding transcript Het
Ccdc87 A G 19: 4,890,579 (GRCm39) D357G probably damaging Het
Cd101 A T 3: 100,929,471 (GRCm39) S8T probably benign Het
Cfap65 C T 1: 74,966,791 (GRCm39) A299T probably benign Het
Cic T C 7: 24,971,157 (GRCm39) V296A possibly damaging Het
Col7a1 T A 9: 108,797,675 (GRCm39) S1686T possibly damaging Het
Ctbp2 A C 7: 132,615,423 (GRCm39) L504R probably damaging Het
Cttnbp2nl T C 3: 104,918,640 (GRCm39) K67E probably benign Het
Cyp2c50 C T 19: 40,102,024 (GRCm39) P480S probably damaging Het
Dcdc5 A C 2: 106,166,420 (GRCm39) noncoding transcript Het
Defb2 G T 8: 22,333,317 (GRCm39) E31* probably null Het
Dhrs1 T A 14: 55,977,083 (GRCm39) N244I possibly damaging Het
Dop1b A G 16: 93,589,978 (GRCm39) I134V probably benign Het
Eif1ad11 A T 12: 87,994,158 (GRCm39) I129F unknown Het
Etl4 A G 2: 20,811,496 (GRCm39) D1193G possibly damaging Het
Ezh1 A C 11: 101,094,594 (GRCm39) S399R probably damaging Het
Fam161a T C 11: 22,970,076 (GRCm39) S26P probably damaging Het
Fcgbp C A 7: 27,813,383 (GRCm39) S2306Y probably damaging Het
Fras1 T C 5: 96,876,512 (GRCm39) I2415T probably benign Het
Gas2l3 A G 10: 89,252,907 (GRCm39) L246P probably damaging Het
Gdf15 C T 8: 71,082,246 (GRCm39) V287M probably damaging Het
Gm7742 T C 17: 21,420,235 (GRCm39) noncoding transcript Het
Grin2d T C 7: 45,507,363 (GRCm39) D446G probably damaging Het
Hemk1 A G 9: 107,205,385 (GRCm39) F107L probably benign Het
Hmgcr C T 13: 96,796,700 (GRCm39) G197S probably damaging Het
Ift52 G A 2: 162,873,108 (GRCm39) G207D probably benign Het
Il17re A G 6: 113,442,816 (GRCm39) T275A probably benign Het
Iqcf3 T C 9: 106,430,788 (GRCm39) probably benign Het
Kcna1 A G 6: 126,619,099 (GRCm39) I407T probably damaging Het
Kcnrg T A 14: 61,845,386 (GRCm39) M142K probably benign Het
Lhx9 C A 1: 138,766,105 (GRCm39) V237L probably benign Het
Lipo3 A C 19: 33,560,497 (GRCm39) I56S probably damaging Het
Loxhd1 C G 18: 77,472,663 (GRCm39) P1060R probably damaging Het
Map2k4 A C 11: 65,587,201 (GRCm39) probably benign Het
Methig1 A G 15: 100,251,416 (GRCm39) K109R possibly damaging Het
Mmrn1 G A 6: 60,950,027 (GRCm39) V326I probably benign Het
Myo15a G A 11: 60,367,741 (GRCm39) R167H probably damaging Het
Ncoa7 G A 10: 30,524,472 (GRCm39) T142M probably damaging Het
Nfkb2 C A 19: 46,296,493 (GRCm39) Q254K probably damaging Het
Nherf1 A G 11: 115,070,918 (GRCm39) E290G probably benign Het
Nol6 G T 4: 41,121,508 (GRCm39) P278Q probably damaging Het
Nptxr T A 15: 79,677,027 (GRCm39) D285V probably damaging Het
Oosp3 T C 19: 11,688,997 (GRCm39) W82R probably damaging Het
Or6b3 A T 1: 92,438,812 (GRCm39) *313K probably null Het
Or6n1 A G 1: 173,916,742 (GRCm39) I45M possibly damaging Het
Pa2g4 G T 10: 128,395,199 (GRCm39) T322K probably damaging Het
Parp16 C A 9: 65,145,175 (GRCm39) F291L probably damaging Het
Pdzd9 A T 7: 120,267,619 (GRCm39) D65E probably damaging Het
Pgap3 A G 11: 98,281,300 (GRCm39) W238R probably damaging Het
Pgf G A 12: 85,218,538 (GRCm39) H67Y probably benign Het
Pik3cb T C 9: 98,955,679 (GRCm39) T413A probably benign Het
Plcxd2 A T 16: 45,800,700 (GRCm39) C175S probably benign Het
Pou2f1 A T 1: 165,719,517 (GRCm39) probably benign Het
Ppfia1 T G 7: 144,052,106 (GRCm39) N846T probably benign Het
Ppid T A 3: 79,502,504 (GRCm39) probably null Het
Prkcq G A 2: 11,231,797 (GRCm39) probably null Het
Ptgds T C 2: 25,359,058 (GRCm39) K66E probably benign Het
Ptpmt1 A G 2: 90,748,283 (GRCm39) noncoding transcript Het
Rab3il1 G A 19: 10,004,034 (GRCm39) G51D probably benign Het
Rdx T C 9: 51,974,891 (GRCm39) V9A probably damaging Het
Rpl7l1 T C 17: 47,089,014 (GRCm39) N239S probably benign Het
Rrbp1 C A 2: 143,806,685 (GRCm39) A978S possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGCCGGCGGCG 7: 97,229,126 (GRCm39) probably benign Het
Scn3a A T 2: 65,291,622 (GRCm39) I1708N probably damaging Het
Serinc1 A G 10: 57,401,466 (GRCm39) I109T possibly damaging Het
Slc30a8 T A 15: 52,169,880 (GRCm39) C36S probably benign Het
Slco1b2 A G 6: 141,631,158 (GRCm39) I597M probably benign Het
Snx27 A G 3: 94,427,518 (GRCm39) F228S probably damaging Het
Spata31f1a T A 4: 42,851,815 (GRCm39) I114F probably damaging Het
Speer4e2 G T 5: 15,026,225 (GRCm39) T144K probably benign Het
Stim1 T A 7: 102,064,571 (GRCm39) F214I probably damaging Het
Svep1 T C 4: 58,082,664 (GRCm39) T1987A probably benign Het
Tamm41 A G 6: 115,002,378 (GRCm39) I18T possibly damaging Het
Tmem150b T A 7: 4,726,871 (GRCm39) D79V probably damaging Het
Tmem167 T A 13: 90,252,548 (GRCm39) I68N probably benign Het
Traf3 A G 12: 111,227,204 (GRCm39) E339G possibly damaging Het
Tspan12 G A 6: 21,795,660 (GRCm39) P177S probably damaging Het
Ttn A G 2: 76,783,562 (GRCm39) I810T probably benign Het
Ulk1 T C 5: 110,939,996 (GRCm39) T407A probably benign Het
Uroc1 G A 6: 90,334,600 (GRCm39) probably null Het
Vmn2r-ps69 T C 7: 84,959,584 (GRCm39) noncoding transcript Het
Wdr59 T C 8: 112,207,446 (GRCm39) N476S probably benign Het
Zfp472 A G 17: 33,196,416 (GRCm39) M164V probably benign Het
Zfp608 T C 18: 55,120,756 (GRCm39) N277S probably benign Het
Zfp831 T C 2: 174,547,097 (GRCm39) C1427R possibly 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
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
Predicted Primers PCR Primer
(F):5'- GTCAACTTTCACGGGTCTTGATTTA -3'
(R):5'- GGGATTCACCTGGTGGGGA -3'

Sequencing Primer
(F):5'- AACTTCAGTCCATGGGATGACTCTG -3'
(R):5'- AGCCCTTGGGAATCTTGAGG -3'
Posted On 2016-02-04