Incidental Mutation 'R8399:Tcp11l1'
ID647751
Institutional Source Beutler Lab
Gene Symbol Tcp11l1
Ensembl Gene ENSMUSG00000027175
Gene Namet-complex 11 like 1
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #R8399 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location104657288-104712169 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104685375 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 381 (D381G)
Ref Sequence ENSEMBL: ENSMUSP00000028597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028597] [ENSMUST00000111118]
Predicted Effect probably benign
Transcript: ENSMUST00000028597
AA Change: D381G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028597
Gene: ENSMUSG00000027175
AA Change: D381G

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
Pfam:Tcp11 78 502 3.9e-105 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111118
AA Change: D381G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000106747
Gene: ENSMUSG00000027175
AA Change: D381G

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
Pfam:Tcp11 77 505 5.2e-134 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,489,170 V3384D possibly damaging Het
Apba3 C A 10: 81,268,998 T35N probably benign Het
Bcl6 T C 16: 23,972,948 M219V probably benign Het
Bco2 T A 9: 50,541,118 T217S probably benign Het
C1s1 C T 6: 124,535,293 V277I probably benign Het
Ccdc162 T A 10: 41,539,521 R2149W probably damaging Het
Cers6 T C 2: 68,861,771 F46L probably benign Het
Chpf T C 1: 75,476,220 I359V probably benign Het
Chrnb4 A C 9: 55,043,823 L52R probably benign Het
Cox6a1 T C 5: 115,345,899 T95A probably damaging Het
Def8 T A 8: 123,455,499 Y197* probably null Het
Dmbt1 C G 7: 131,082,587 D778E unknown Het
Dnaaf3 C T 7: 4,523,937 probably null Het
Dnm1l T A 16: 16,321,672 H484L probably damaging Het
Eml1 G A 12: 108,538,131 S783N possibly damaging Het
Frmd4a T C 2: 4,572,433 S367P probably damaging Het
Hck A C 2: 153,138,317 K355N probably damaging Het
Hexim2 G T 11: 103,138,503 R127L probably damaging Het
Hivep2 T C 10: 14,132,434 L1592P possibly damaging Het
Htr1d G A 4: 136,443,375 G305E probably damaging Het
Ifi207 G A 1: 173,730,278 S298L unknown Het
Ighv1-11 A G 12: 114,612,427 V56A possibly damaging Het
Ighv7-1 G A 12: 113,896,912 T12I unknown Het
Kctd14 T C 7: 97,457,604 L22P probably damaging Het
Klra17 T C 6: 129,874,937 probably benign Het
Kndc1 C T 7: 139,913,518 R467W probably damaging Het
Maf T A 8: 115,706,512 I118F unknown Het
Mppe1 T C 18: 67,225,875 T341A probably benign Het
Mtmr2 T A 9: 13,792,067 V186E probably benign Het
Nedd9 G T 13: 41,318,474 Y176* probably null Het
Olfr1145 A C 2: 87,810,224 M135L probably damaging Het
Olfr1238 T C 2: 89,406,684 T132A probably benign Het
Omd A G 13: 49,589,869 I132V possibly damaging Het
Pcnx4 T A 12: 72,574,211 M935K probably benign Het
Pecr G A 1: 72,267,465 T219I probably benign Het
Pkd1l3 C T 8: 109,623,888 P455L possibly damaging Het
Plcg2 T C 8: 117,596,362 Y719H probably damaging Het
Plk4 C T 3: 40,808,830 R479* probably null Het
Pms1 T A 1: 53,267,932 probably null Het
Raph1 C T 1: 60,489,318 S928N unknown Het
Rtp4 G T 16: 23,520,414 probably benign Het
Skor1 C T 9: 63,145,158 V510I possibly damaging Het
Smg1 T C 7: 118,190,571 T699A unknown Het
Tnik T A 3: 28,494,010 M56K unknown Het
Trappc9 G A 15: 73,052,282 R204C probably damaging Het
Trmt10b A T 4: 45,305,870 M184L possibly damaging Het
Vmn1r224 T A 17: 20,419,749 I196N probably damaging Het
Vmn1r49 A T 6: 90,072,707 C104* probably null Het
Vmn2r35 A C 7: 7,816,898 S124R probably benign Het
Wdr62 T C 7: 30,258,061 E547G probably damaging Het
Zfp68 A T 5: 138,607,820 D80E probably benign Het
Other mutations in Tcp11l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Tcp11l1 APN 2 104706486 missense probably benign
IGL01999:Tcp11l1 APN 2 104698569 missense possibly damaging 0.61
IGL02792:Tcp11l1 APN 2 104681820 missense probably benign 0.19
R0376:Tcp11l1 UTSW 2 104697505 splice site probably benign
R0683:Tcp11l1 UTSW 2 104681892 missense possibly damaging 0.90
R0828:Tcp11l1 UTSW 2 104699836 splice site probably benign
R2091:Tcp11l1 UTSW 2 104684139 missense possibly damaging 0.77
R2095:Tcp11l1 UTSW 2 104681840 missense probably damaging 1.00
R3750:Tcp11l1 UTSW 2 104698542 missense probably damaging 1.00
R4456:Tcp11l1 UTSW 2 104684222 missense probably damaging 1.00
R4926:Tcp11l1 UTSW 2 104681785 missense probably benign 0.01
R5184:Tcp11l1 UTSW 2 104699944 missense probably damaging 1.00
R5461:Tcp11l1 UTSW 2 104688511 missense probably benign 0.00
R6979:Tcp11l1 UTSW 2 104706439 missense probably benign
R7387:Tcp11l1 UTSW 2 104699930 missense possibly damaging 0.92
R7443:Tcp11l1 UTSW 2 104684135 missense probably benign 0.01
R7872:Tcp11l1 UTSW 2 104706492 missense probably benign 0.25
R7940:Tcp11l1 UTSW 2 104698648 missense probably damaging 1.00
R8431:Tcp11l1 UTSW 2 104699969 missense probably damaging 0.96
R8445:Tcp11l1 UTSW 2 104681933 missense probably benign 0.02
V8831:Tcp11l1 UTSW 2 104685484 missense probably benign
Predicted Primers PCR Primer
(F):5'- TCACAGCCACGTTGCTCATTG -3'
(R):5'- CAGTTTTGATGGACCAGTCTCG -3'

Sequencing Primer
(F):5'- GAGCCTTTCAGACATTTGAAAACC -3'
(R):5'- ATGGACCAGTCTCGTTTCCAAGAG -3'
Posted On2020-09-02