Incidental Mutation 'R3105:Tm4sf4'
ID 262998
Institutional Source Beutler Lab
Gene Symbol Tm4sf4
Ensembl Gene ENSMUSG00000027801
Gene Name transmembrane 4 superfamily member 4
Synonyms il-TMP
MMRRC Submission 040579-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3105 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 57332831-57349098 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57345043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 150 (R150C)
Ref Sequence ENSEMBL: ENSMUSP00000029377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029377]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000029377
AA Change: R150C

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029377
Gene: ENSMUSG00000027801
AA Change: R150C

DomainStartEndE-ValueType
Pfam:L6_membrane 1 191 2.7e-80 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (44/44)
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 that can regulate cell proliferation.[provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 T C 1: 75,151,687 (GRCm39) probably benign Het
Abhd13 T C 8: 10,037,931 (GRCm39) V176A probably benign Het
Alpk2 A T 18: 65,483,281 (GRCm39) S242R possibly damaging Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 127,960,946 (GRCm39) probably null Het
Ccdc163 C A 4: 116,566,697 (GRCm39) Q58K probably benign Het
Ccdc191 T C 16: 43,751,573 (GRCm39) F301S probably damaging Het
Clca4b A T 3: 144,622,432 (GRCm39) N544K probably benign Het
Col6a3 T C 1: 90,744,024 (GRCm39) R515G probably damaging Het
Dgkg T A 16: 22,394,091 (GRCm39) T321S probably damaging Het
Dip2b C A 15: 100,040,018 (GRCm39) C138* probably null Het
Dnaja2 G A 8: 86,281,857 (GRCm39) T7M probably damaging Het
Ezh1 A C 11: 101,086,468 (GRCm39) C575W probably damaging Het
F11 T A 8: 45,698,754 (GRCm39) Q463H probably damaging Het
Gfpt1 A G 6: 87,034,628 (GRCm39) D142G probably benign Het
Gm8730 T C 8: 103,591,895 (GRCm39) noncoding transcript Het
Grm1 A G 10: 10,955,601 (GRCm39) S228P probably benign Het
Hnf4g T G 3: 3,717,916 (GRCm39) S388R probably benign Het
Il1rap A G 16: 26,541,502 (GRCm39) E581G probably benign Het
Lrp4 T C 2: 91,331,394 (GRCm39) Y1585H probably benign Het
Magi3 A G 3: 103,958,636 (GRCm39) V483A probably damaging Het
Map2 T C 1: 66,472,756 (GRCm39) probably null Het
Or4a78 T C 2: 89,497,302 (GRCm39) I309M probably benign Het
Osgep T C 14: 51,154,286 (GRCm39) T225A probably benign Het
Otof A G 5: 30,539,145 (GRCm39) Y1090H probably benign Het
Pgr T A 9: 8,958,397 (GRCm39) F801L probably benign Het
Pomk A C 8: 26,472,942 (GRCm39) L337R probably damaging Het
Prune2 T A 19: 17,096,520 (GRCm39) S675T probably damaging Het
Rnpepl1 C T 1: 92,844,102 (GRCm39) L278F probably damaging Het
Sars1 C T 3: 108,336,621 (GRCm39) R302H probably damaging Het
Sbspon T C 1: 15,962,806 (GRCm39) E24G probably benign Het
Sec16a G A 2: 26,328,433 (GRCm39) P1194L probably benign Het
Sfmbt1 G A 14: 30,539,753 (GRCm39) C847Y probably damaging Het
Slc22a29 T C 19: 8,147,337 (GRCm39) T342A probably benign Het
Spaca1 G A 4: 34,028,468 (GRCm39) T283M probably damaging Het
Stradb C A 1: 59,031,450 (GRCm39) H212Q possibly damaging Het
Taf6l C T 19: 8,756,219 (GRCm39) S208N probably damaging Het
Tkfc G T 19: 10,574,357 (GRCm39) C198* probably null Het
Tmem212 T C 3: 27,939,019 (GRCm39) S156G probably damaging Het
Tmigd1 A G 11: 76,801,124 (GRCm39) T204A possibly damaging Het
Tsga10 G A 1: 37,840,872 (GRCm39) L445F probably damaging Het
Urb1 C T 16: 90,592,331 (GRCm39) V310I probably damaging Het
Vmn1r205 T C 13: 22,777,109 (GRCm39) probably benign Het
Other mutations in Tm4sf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02707:Tm4sf4 APN 3 57,333,939 (GRCm39) nonsense probably null
A4554:Tm4sf4 UTSW 3 57,345,188 (GRCm39) critical splice donor site probably null
R0582:Tm4sf4 UTSW 3 57,341,278 (GRCm39) splice site probably benign
R2396:Tm4sf4 UTSW 3 57,345,181 (GRCm39) missense unknown
R3104:Tm4sf4 UTSW 3 57,345,043 (GRCm39) missense possibly damaging 0.86
R3106:Tm4sf4 UTSW 3 57,345,043 (GRCm39) missense possibly damaging 0.86
R3888:Tm4sf4 UTSW 3 57,345,166 (GRCm39) nonsense probably null
R5279:Tm4sf4 UTSW 3 57,341,159 (GRCm39) missense probably benign 0.00
R6287:Tm4sf4 UTSW 3 57,333,112 (GRCm39) missense probably damaging 1.00
R7328:Tm4sf4 UTSW 3 57,333,925 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- CCAGACAGTGTCAGCATGAAC -3'
(R):5'- CCTCCTTTGCTCTGAGAAGAAAC -3'

Sequencing Primer
(F):5'- GAACGACCTACTCAGTGAGATTTGC -3'
(R):5'- CAGGGGAATCCTAACTTACCC -3'
Posted On 2015-02-05