Incidental Mutation 'R9418:Tm4sf5'
ID 712182
Institutional Source Beutler Lab
Gene Symbol Tm4sf5
Ensembl Gene ENSMUSG00000018919
Gene Name transmembrane 4 superfamily member 5
Synonyms 2010003F10Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R9418 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 70396100-70402009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70401134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 117 (C117S)
Ref Sequence ENSEMBL: ENSMUSP00000019063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019063] [ENSMUST00000021179]
AlphaFold Q91XF2
Predicted Effect probably damaging
Transcript: ENSMUST00000019063
AA Change: C117S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019063
Gene: ENSMUSG00000018919
AA Change: C117S

DomainStartEndE-ValueType
Pfam:L6_membrane 1 189 3.8e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000021179
SMART Domains Protein: ENSMUSP00000021179
Gene: ENSMUSG00000020830

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:VOMI 35 199 6.2e-64 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,645,317 (GRCm39) G401R probably damaging Het
Adgrf5 G A 17: 43,737,864 (GRCm39) V233I probably benign Het
Ankrd34b A G 13: 92,575,232 (GRCm39) K155E probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Ccdc141 A T 2: 76,871,766 (GRCm39) H839Q probably benign Het
Ccdc18 T C 5: 108,303,669 (GRCm39) L251P probably damaging Het
Ciita G T 16: 10,319,765 (GRCm39) E63* probably null Het
Cmya5 T C 13: 93,226,209 (GRCm39) T2960A probably benign Het
Cyp2b13 A T 7: 25,761,110 (GRCm39) I56F probably benign Het
Dcaf4 A T 12: 83,586,606 (GRCm39) Y422F probably benign Het
Dhrs7b A T 11: 60,746,594 (GRCm39) I228F probably damaging Het
Drosha T C 15: 12,885,167 (GRCm39) S853P probably benign Het
Dzank1 C T 2: 144,355,408 (GRCm39) V96M probably damaging Het
Fap G A 2: 62,385,181 (GRCm39) Q65* probably null Het
Fbxo47 T A 11: 97,747,067 (GRCm39) N333I possibly damaging Het
Fem1al C T 11: 29,774,632 (GRCm39) C275Y probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Gpr171 T C 3: 59,004,999 (GRCm39) T259A possibly damaging Het
Hectd2 T A 19: 36,589,574 (GRCm39) S595T probably benign Het
Hexa A G 9: 59,464,592 (GRCm39) I161V probably benign Het
Hira A G 16: 18,770,025 (GRCm39) T777A probably benign Het
Il2ra T C 2: 11,689,203 (GRCm39) F244S possibly damaging Het
Kcne3 A G 7: 99,833,385 (GRCm39) M1V probably null Het
Kcnj1 G A 9: 32,308,203 (GRCm39) C209Y probably damaging Het
Kcnj2 A T 11: 110,963,357 (GRCm39) I250F probably damaging Het
Krt26 C T 11: 99,228,741 (GRCm39) probably benign Het
Leng9 T C 7: 4,151,354 (GRCm39) T441A probably benign Het
Lingo2 T C 4: 35,709,035 (GRCm39) H315R probably benign Het
Lrrc7 A T 3: 157,908,023 (GRCm39) S266T possibly damaging Het
Mab21l4 A C 1: 93,087,710 (GRCm39) L48V probably benign Het
Mib1 A G 18: 10,812,064 (GRCm39) D987G probably damaging Het
Mrc1 T C 2: 14,234,358 (GRCm39) V12A probably benign Het
Mta1 G T 12: 113,094,987 (GRCm39) R415L probably damaging Het
Mug2 T A 6: 122,017,700 (GRCm39) V479E probably benign Het
Mylk3 C A 8: 86,091,444 (GRCm39) M120I possibly damaging Het
Or13c7c C T 4: 43,835,879 (GRCm39) V204M probably benign Het
Or2v2 G T 11: 49,004,484 (GRCm39) P23Q probably benign Het
Otog A T 7: 45,938,024 (GRCm39) Q1911L probably benign Het
Pcdh20 C T 14: 88,705,455 (GRCm39) C615Y probably benign Het
Pde1b A G 15: 103,433,464 (GRCm39) H294R probably damaging Het
Phldb3 A T 7: 24,328,354 (GRCm39) I633F probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pip5k1b A G 19: 24,327,581 (GRCm39) V425A probably benign Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Rab23 A T 1: 33,777,424 (GRCm39) E179D probably benign Het
Slc12a6 C A 2: 112,174,555 (GRCm39) L522I Het
Slc22a19 A T 19: 7,660,210 (GRCm39) M400K possibly damaging Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Spsb2 C A 6: 124,786,282 (GRCm39) A5D probably damaging Het
Tgfb1 A G 7: 25,391,952 (GRCm39) E169G probably damaging Het
Tmcc3 T C 10: 94,415,087 (GRCm39) L294P possibly damaging Het
Ubc T C 5: 125,464,466 (GRCm39) Y287C probably damaging Het
Uroc1 G T 6: 90,313,880 (GRCm39) V56F probably benign Het
Ush1c A T 7: 45,872,292 (GRCm39) F237I probably damaging Het
Xxylt1 A T 16: 30,826,624 (GRCm39) Y230* probably null Het
Zfp467 A T 6: 48,415,990 (GRCm39) C221S probably damaging Het
Other mutations in Tm4sf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02725:Tm4sf5 APN 11 70,401,448 (GRCm39) missense probably benign
IGL03107:Tm4sf5 APN 11 70,396,223 (GRCm39) missense possibly damaging 0.57
IGL03161:Tm4sf5 APN 11 70,401,098 (GRCm39) missense probably benign 0.06
H8562:Tm4sf5 UTSW 11 70,396,338 (GRCm39) splice site probably benign
R0009:Tm4sf5 UTSW 11 70,401,538 (GRCm39) missense probably damaging 1.00
R0009:Tm4sf5 UTSW 11 70,401,538 (GRCm39) missense probably damaging 1.00
R0269:Tm4sf5 UTSW 11 70,401,495 (GRCm39) missense probably damaging 1.00
R0315:Tm4sf5 UTSW 11 70,401,462 (GRCm39) missense probably damaging 0.99
R0617:Tm4sf5 UTSW 11 70,401,495 (GRCm39) missense probably damaging 1.00
R5477:Tm4sf5 UTSW 11 70,401,174 (GRCm39) missense probably benign 0.02
Z1176:Tm4sf5 UTSW 11 70,396,271 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTATTTTCAGGCAGGCTGAGC -3'
(R):5'- ATCTACTAAGATCTGTAAAGGGCTGG -3'

Sequencing Primer
(F):5'- CAGGGGCGGGGTAGTATGC -3'
(R):5'- GATGGGCTATTTGGAAGGAACTCTC -3'
Posted On 2022-05-16