Incidental Mutation 'R7957:Smim22'
ID 649915
Institutional Source Beutler Lab
Gene Symbol Smim22
Ensembl Gene ENSMUSG00000096215
Gene Name small integral membrane protein 22
Synonyms Gm5480
MMRRC Submission 046001-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7957 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 4825152-4826173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4826089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 85 (D85V)
Ref Sequence ENSEMBL: ENSMUSP00000137083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023191] [ENSMUST00000090453] [ENSMUST00000178155] [ENSMUST00000184256] [ENSMUST00000184439] [ENSMUST00000185147] [ENSMUST00000201077] [ENSMUST00000202281]
AlphaFold J3QP37
Predicted Effect probably benign
Transcript: ENSMUST00000023191
SMART Domains Protein: ENSMUSP00000023191
Gene: ENSMUSG00000022540

DomainStartEndE-ValueType
Pfam:Rogdi_lz 18 298 9.7e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090453
SMART Domains Protein: ENSMUSP00000087938
Gene: ENSMUSG00000022540

DomainStartEndE-ValueType
Pfam:Rogdi_lz 18 210 1.2e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178155
AA Change: D85V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137083
Gene: ENSMUSG00000096215
AA Change: D85V

DomainStartEndE-ValueType
Pfam:DUF4713 10 65 5.1e-29 PFAM
Predicted Effect silent
Transcript: ENSMUST00000184256
SMART Domains Protein: ENSMUSP00000138990
Gene: ENSMUSG00000096215

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000184439
AA Change: D85V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139370
Gene: ENSMUSG00000096215
AA Change: D85V

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000185147
AA Change: D80V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139067
Gene: ENSMUSG00000096215
AA Change: D80V

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201077
SMART Domains Protein: ENSMUSP00000144166
Gene: ENSMUSG00000022540

DomainStartEndE-ValueType
Pfam:Rogdi_lz 12 134 7.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202281
SMART Domains Protein: ENSMUSP00000144481
Gene: ENSMUSG00000022540

DomainStartEndE-ValueType
Pfam:Rogdi_lz 18 276 4.4e-49 PFAM
Meta Mutation Damage Score 0.2114 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,982,439 (GRCm39) M1T probably null Het
Abhd2 T A 7: 78,975,194 (GRCm39) M128K probably benign Het
Adamts12 A G 15: 11,317,298 (GRCm39) T1333A possibly damaging Het
Alg8 A G 7: 97,040,131 (GRCm39) T438A probably benign Het
Ccn3 G T 15: 54,609,734 (GRCm39) S78I possibly damaging Het
Cebpa A G 7: 34,819,867 (GRCm39) I342V possibly damaging Het
Chd9 T C 8: 91,778,326 (GRCm39) M2779T probably damaging Het
Cnot3 C A 7: 3,661,221 (GRCm39) P577T probably benign Het
Col17a1 T C 19: 47,649,556 (GRCm39) D755G probably damaging Het
Col5a3 A G 9: 20,685,347 (GRCm39) V1443A unknown Het
Crygs C T 16: 22,624,082 (GRCm39) R175H probably damaging Het
Fam193a A G 5: 34,619,430 (GRCm39) D1031G probably damaging Het
Fam83b T A 9: 76,399,267 (GRCm39) H612L probably benign Het
Gabrr2 A G 4: 33,081,410 (GRCm39) T149A probably damaging Het
Gm3667 T C 14: 18,269,663 (GRCm39) N156D probably benign Het
Hpcal1 T A 12: 17,841,171 (GRCm39) L183Q probably damaging Het
Ilf2 G T 3: 90,394,777 (GRCm39) E342* probably null Het
Ints13 A G 6: 146,452,264 (GRCm39) S652P probably damaging Het
Kansl2 C A 15: 98,422,499 (GRCm39) E356D probably benign Het
Klhl6 T C 16: 19,768,201 (GRCm39) E448G probably null Het
Mmp14 A G 14: 54,673,707 (GRCm39) I124V probably benign Het
Morc2b A T 17: 33,354,747 (GRCm39) D1008E probably benign Het
Muc16 A C 9: 18,554,767 (GRCm39) V3842G unknown Het
Myo9b A T 8: 71,807,405 (GRCm39) I1614F probably benign Het
Nipa1 A T 7: 55,629,547 (GRCm39) C189S probably damaging Het
Ntn4 T C 10: 93,480,335 (GRCm39) probably benign Het
Or12k5 A G 2: 36,894,972 (GRCm39) I218T probably benign Het
Or2t29 A G 11: 58,433,624 (GRCm39) L239P probably damaging Het
Or3a4 A C 11: 73,944,982 (GRCm39) L201R probably damaging Het
Or4x13 A T 2: 90,231,395 (GRCm39) Y130F probably damaging Het
Or8g17 T G 9: 38,930,349 (GRCm39) I163L probably benign Het
Pank1 T A 19: 34,791,096 (GRCm39) H528L probably damaging Het
Pappa2 A T 1: 158,589,131 (GRCm39) L1698* probably null Het
Park7 A G 4: 150,988,341 (GRCm39) S85P probably damaging Het
Pik3r4 A G 9: 105,564,408 (GRCm39) D1334G probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Rapgef2 T C 3: 79,122,276 (GRCm39) E30G probably benign Het
Rhbdf1 A G 11: 32,160,523 (GRCm39) F676L probably damaging Het
Rsf1 GGC GGCCACGGCAGC 7: 97,229,113 (GRCm39) probably benign Het
Scd4 G T 19: 44,329,687 (GRCm39) M219I probably benign Het
Slfn5 T A 11: 82,847,613 (GRCm39) I166N probably benign Het
Socs2 T C 10: 95,250,812 (GRCm39) E7G probably benign Het
Thumpd2 T C 17: 81,334,157 (GRCm39) E477G probably benign Het
Tlr12 C T 4: 128,510,483 (GRCm39) G589D probably benign Het
Ttn A T 2: 76,595,199 (GRCm39) I20317K probably damaging Het
Ttyh2 A G 11: 114,599,690 (GRCm39) probably null Het
Ugt2a3 T A 5: 87,475,050 (GRCm39) D398V probably damaging Het
Vmn2r88 A T 14: 51,650,589 (GRCm39) M101L Het
Vmn2r93 A T 17: 18,545,954 (GRCm39) R609* probably null Het
Zfp473 C T 7: 44,381,916 (GRCm39) E806K probably damaging Het
Zfp93 T C 7: 23,974,999 (GRCm39) L328P probably damaging Het
Other mutations in Smim22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Smim22 APN 16 4,825,860 (GRCm39) missense probably damaging 0.99
R1412:Smim22 UTSW 16 4,825,649 (GRCm39) missense possibly damaging 0.95
R4556:Smim22 UTSW 16 4,825,730 (GRCm39) missense possibly damaging 0.92
R4890:Smim22 UTSW 16 4,825,722 (GRCm39) missense probably damaging 0.99
Z1177:Smim22 UTSW 16 4,825,224 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GCCACATCACATCTGGATGC -3'
(R):5'- TTGAATGTTGGCATCACAGC -3'

Sequencing Primer
(F):5'- ACATCACATCTGGATGCCTCTC -3'
(R):5'- CCCAAGGGGTAGCAGAAGTTG -3'
Posted On 2020-09-15