Incidental Mutation 'IGL02858:Tmcc1'
ID362049
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmcc1
Ensembl Gene ENSMUSG00000030126
Gene Nametransmembrane and coiled coil domains 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.327) question?
Stock #IGL02858
Quality Score
Status
Chromosome6
Chromosomal Location116018611-116193486 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116133888 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 148 (V148A)
Ref Sequence ENSEMBL: ENSMUSP00000134148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088896] [ENSMUST00000173031] [ENSMUST00000173110]
Predicted Effect probably benign
Transcript: ENSMUST00000032222
AA Change: V144A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032222
Gene: ENSMUSG00000030126
AA Change: V144A

DomainStartEndE-ValueType
low complexity region 153 164 N/A INTRINSIC
Pfam:Tmemb_cc2 268 677 9.7e-170 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088896
AA Change: V148A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000086285
Gene: ENSMUSG00000030126
AA Change: V148A

DomainStartEndE-ValueType
low complexity region 156 167 N/A INTRINSIC
Pfam:Tmemb_cc2 227 636 2.3e-170 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000172909
AA Change: V5A
SMART Domains Protein: ENSMUSP00000134407
Gene: ENSMUSG00000030126
AA Change: V5A

DomainStartEndE-ValueType
low complexity region 14 25 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173031
AA Change: V148A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134148
Gene: ENSMUSG00000030126
AA Change: V148A

DomainStartEndE-ValueType
low complexity region 156 167 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173110
AA Change: V148A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133794
Gene: ENSMUSG00000030126
AA Change: V148A

DomainStartEndE-ValueType
low complexity region 156 167 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204637
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,769,034 V126A probably damaging Het
Akap9 T C 5: 4,069,130 Y3546H possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arhgap45 C A 10: 80,017,934 T94N probably benign Het
Arid1b T C 17: 5,341,891 S1899P possibly damaging Het
Atad5 T A 11: 80,089,775 V2E probably damaging Het
Calr A T 8: 84,844,899 V155E probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cetn1 T C 18: 9,619,422 probably benign Het
Chl1 A T 6: 103,641,988 L6F probably damaging Het
Chrnb1 C T 11: 69,785,109 V436I possibly damaging Het
Col4a4 T C 1: 82,528,483 E292G unknown Het
Ddx56 A G 11: 6,267,667 L18P probably damaging Het
Dhx36 A C 3: 62,477,376 probably benign Het
Dnah5 A T 15: 28,453,212 R4376S possibly damaging Het
Dnah6 T A 6: 73,208,599 D113V probably benign Het
Dnah7a A G 1: 53,472,959 probably benign Het
Dock7 T A 4: 98,945,205 K1920* probably null Het
Dysf A G 6: 84,099,489 D628G probably benign Het
Exoc3l2 A G 7: 19,495,184 I176V probably benign Het
Fcrl1 A G 3: 87,384,705 Y57C probably damaging Het
Fzd4 C T 7: 89,407,954 T403M probably damaging Het
Gpr171 A T 3: 59,097,867 N162K probably benign Het
Impdh1 T A 6: 29,206,925 K132* probably null Het
Itgb2l A T 16: 96,422,650 W730R possibly damaging Het
Jmjd8 T C 17: 25,830,160 F230S probably damaging Het
Krt72 G A 15: 101,782,121 T232M probably damaging Het
Lpin3 T C 2: 160,898,620 probably benign Het
Nup214 A C 2: 32,010,372 probably benign Het
Olfr740 A T 14: 50,453,050 probably benign Het
Olfr77 A G 9: 19,920,451 M81V probably damaging Het
Olfr898 A G 9: 38,349,173 Q24R probably benign Het
Olfr943 A G 9: 39,184,526 Y113C probably damaging Het
Pdgfra T A 5: 75,194,974 S1048R probably damaging Het
Sall3 G T 18: 80,969,513 A1236E probably damaging Het
Sipa1 T C 19: 5,655,708 T411A probably damaging Het
Thsd7a T G 6: 12,500,995 D471A probably benign Het
Tm2d1 T A 4: 98,374,955 E100D probably damaging Het
Tubgcp6 A T 15: 89,102,315 Y19* probably null Het
Ubr3 A G 2: 69,952,859 Y713C probably damaging Het
Uevld A G 7: 46,955,629 V39A probably benign Het
Vmn2r28 A T 7: 5,481,004 H732Q probably damaging Het
Zfp629 A T 7: 127,610,312 F775Y probably damaging Het
Other mutations in Tmcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Tmcc1 APN 6 116043027 missense probably damaging 0.99
IGL01580:Tmcc1 APN 6 116042985 missense possibly damaging 0.91
IGL03226:Tmcc1 APN 6 116133976 missense probably damaging 0.99
FR4976:Tmcc1 UTSW 6 116193380 start gained probably benign
IGL02988:Tmcc1 UTSW 6 116042928 missense probably damaging 1.00
R0522:Tmcc1 UTSW 6 116042870 frame shift probably null
R0654:Tmcc1 UTSW 6 116042990 missense probably benign 0.03
R0721:Tmcc1 UTSW 6 116042870 frame shift probably null
R1392:Tmcc1 UTSW 6 116022110 missense possibly damaging 0.84
R1573:Tmcc1 UTSW 6 116133963 missense probably damaging 0.99
R1644:Tmcc1 UTSW 6 116133865 missense probably damaging 1.00
R2062:Tmcc1 UTSW 6 116043058 missense probably benign 0.01
R2065:Tmcc1 UTSW 6 116042870 frame shift probably null
R2214:Tmcc1 UTSW 6 116042870 frame shift probably null
R2240:Tmcc1 UTSW 6 116042870 frame shift probably null
R2399:Tmcc1 UTSW 6 116042870 frame shift probably null
R3683:Tmcc1 UTSW 6 116042870 frame shift probably null
R3722:Tmcc1 UTSW 6 116133822 missense possibly damaging 0.83
R3926:Tmcc1 UTSW 6 116042913 missense probably damaging 1.00
R4082:Tmcc1 UTSW 6 116043480 missense probably damaging 1.00
R4155:Tmcc1 UTSW 6 116133804 missense probably benign 0.18
R4619:Tmcc1 UTSW 6 116043286 missense probably damaging 1.00
R5246:Tmcc1 UTSW 6 116043420 missense probably damaging 1.00
R5568:Tmcc1 UTSW 6 116022110 missense possibly damaging 0.84
R6364:Tmcc1 UTSW 6 116043761 start gained probably benign
Posted On2015-12-18