Incidental Mutation 'R7018:Ttc39d'
ID 545475
Institutional Source Beutler Lab
Gene Symbol Ttc39d
Ensembl Gene ENSMUSG00000046196
Gene Name tetratricopeptide repeat domain 39D
Synonyms 4930560E09Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R7018 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 80207460-80217936 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80216181 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 90 (W90R)
Ref Sequence ENSEMBL: ENSMUSP00000123158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053168] [ENSMUST00000134652]
AlphaFold Q0VF76
Predicted Effect probably benign
Transcript: ENSMUST00000053168
AA Change: W90R

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000053781
Gene: ENSMUSG00000046196
AA Change: W90R

DomainStartEndE-ValueType
Pfam:DUF3808 69 522 9.6e-149 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134652
AA Change: W90R

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123158
Gene: ENSMUSG00000046196
AA Change: W90R

DomainStartEndE-ValueType
Pfam:DUF3808 69 522 7.2e-150 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apcdd1 G T 18: 62,937,049 R129L probably damaging Het
Arhgef28 C T 13: 97,965,435 V844I probably damaging Het
Arhgef5 T C 6: 43,288,731 V1569A probably damaging Het
Atr T A 9: 95,866,694 S431T probably benign Het
Cdh11 T C 8: 102,634,321 D795G possibly damaging Het
Crygf T C 1: 65,927,971 S85P probably benign Het
Diexf A G 1: 193,114,855 I563T probably benign Het
Dip2c T A 13: 9,659,278 Y1385N probably damaging Het
Dnah14 G A 1: 181,626,944 V840I possibly damaging Het
Dsg1a T C 18: 20,328,738 F299L possibly damaging Het
Fgfr4 A T 13: 55,166,200 S576C probably damaging Het
Frmd8 T C 19: 5,869,518 D167G probably damaging Het
Gm5105 G A 3: 138,049,558 T89I unknown Het
Grhl1 C T 12: 24,575,997 S35L possibly damaging Het
Gsn A G 2: 35,293,506 E242G probably benign Het
Hcrtr1 A G 4: 130,135,868 I140T probably damaging Het
Ifnlr1 T C 4: 135,703,824 Y208H possibly damaging Het
Ighv1-58 T C 12: 115,312,365 Y51C probably damaging Het
Iqcj T A 3: 68,041,247 Y21* probably null Het
Kcnc4 T C 3: 107,458,862 Y10C probably benign Het
Kcnk7 G T 19: 5,706,132 G129W probably damaging Het
Kcnq2 T A 2: 181,081,724 R620* probably null Het
Klk13 C A 7: 43,726,702 P267Q probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,850,378 probably benign Het
L3mbtl4 G A 17: 68,486,943 R314H probably damaging Het
Lamc2 T A 1: 153,136,742 M729L probably benign Het
Lyst T G 13: 13,743,459 probably null Het
Med13l G A 5: 118,751,986 R1909H probably damaging Het
Mstn T A 1: 53,064,084 L193Q possibly damaging Het
Mylk T C 16: 35,000,426 V125A possibly damaging Het
Nalcn T A 14: 123,409,821 M547L probably damaging Het
Nckap5 A G 1: 126,025,048 S1256P probably damaging Het
Nkain1 T C 4: 130,532,118 Y189C probably damaging Het
Olfr1164 T A 2: 88,093,256 I227F probably benign Het
Olfr193 A G 16: 59,110,607 M1T probably null Het
Olfr490 T G 7: 108,286,344 I261L probably benign Het
Olfr761 A T 17: 37,952,502 I174N probably damaging Het
Oosp3 T A 19: 11,699,419 D47E probably benign Het
Pcdh15 G T 10: 74,466,354 G942W probably damaging Het
Pcyox1l C A 18: 61,707,554 probably benign Het
Peg3 T C 7: 6,708,839 E1128G possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 109,624,195 probably benign Het
Plscr1 T A 9: 92,264,662 V119D probably damaging Het
Prss56 A T 1: 87,185,948 D258V possibly damaging Het
Ptpn23 T G 9: 110,385,816 K85Q possibly damaging Het
Ranbp3l C A 15: 9,007,285 S7Y probably benign Het
Rnf31 T C 14: 55,592,233 L85P probably damaging Het
Rptn T C 3: 93,397,900 C847R possibly damaging Het
Six4 T A 12: 73,108,953 E413D probably benign Het
Slc30a2 G A 4: 134,347,415 R161Q probably damaging Het
Sned1 T C 1: 93,284,421 V1115A probably damaging Het
Spen T C 4: 141,493,444 K401E unknown Het
Srbd1 T A 17: 86,136,415 R128W possibly damaging Het
Strc A T 2: 121,369,058 I1300N probably damaging Het
Susd1 T G 4: 59,390,627 T230P probably benign Het
Thumpd2 G T 17: 81,055,897 S47* probably null Het
Tmprss11a C T 5: 86,428,570 V141I probably damaging Het
Tmprss15 T C 16: 79,024,853 Y438C possibly damaging Het
Tnfrsf1a T C 6: 125,356,951 S56P probably damaging Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Wdr20rt A T 12: 65,225,762 probably null Het
Zfp646 C A 7: 127,882,322 Q1224K probably benign Het
Other mutations in Ttc39d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Ttc39d APN 17 80216526 missense probably damaging 0.99
IGL01065:Ttc39d APN 17 80216274 missense probably damaging 0.96
IGL01834:Ttc39d APN 17 80216046 missense probably benign
IGL02541:Ttc39d APN 17 80216446 missense probably damaging 0.99
PIT4687001:Ttc39d UTSW 17 80216925 missense probably damaging 1.00
R0042:Ttc39d UTSW 17 80215950 missense probably benign 0.02
R0042:Ttc39d UTSW 17 80215950 missense probably benign 0.02
R0124:Ttc39d UTSW 17 80216946 missense probably damaging 1.00
R0523:Ttc39d UTSW 17 80216457 missense possibly damaging 0.78
R0801:Ttc39d UTSW 17 80216215 missense probably damaging 1.00
R1581:Ttc39d UTSW 17 80216484 missense probably benign 0.02
R2071:Ttc39d UTSW 17 80216601 missense probably damaging 1.00
R2271:Ttc39d UTSW 17 80217246 missense probably damaging 1.00
R2272:Ttc39d UTSW 17 80217246 missense probably damaging 1.00
R2520:Ttc39d UTSW 17 80216370 missense probably benign 0.17
R2885:Ttc39d UTSW 17 80216715 missense probably benign 0.00
R2939:Ttc39d UTSW 17 80217553 missense probably damaging 1.00
R2940:Ttc39d UTSW 17 80217553 missense probably damaging 1.00
R3081:Ttc39d UTSW 17 80217553 missense probably damaging 1.00
R4669:Ttc39d UTSW 17 80217639 missense probably benign 0.00
R4872:Ttc39d UTSW 17 80217098 missense probably benign 0.00
R4951:Ttc39d UTSW 17 80216033 missense probably benign 0.01
R6260:Ttc39d UTSW 17 80216647 nonsense probably null
R7042:Ttc39d UTSW 17 80216462 missense probably benign 0.00
R7468:Ttc39d UTSW 17 80216150 missense possibly damaging 0.96
R7761:Ttc39d UTSW 17 80217312 missense probably damaging 0.98
R7825:Ttc39d UTSW 17 80216146 missense probably damaging 0.99
R7955:Ttc39d UTSW 17 80215923 missense probably benign
R8192:Ttc39d UTSW 17 80216578 missense probably damaging 0.99
R8400:Ttc39d UTSW 17 80216005 missense probably benign 0.15
R8682:Ttc39d UTSW 17 80217264 missense probably benign 0.01
R9019:Ttc39d UTSW 17 80215920 missense probably benign 0.03
R9453:Ttc39d UTSW 17 80217325 missense probably damaging 1.00
R9480:Ttc39d UTSW 17 80216710 missense probably benign
Predicted Primers PCR Primer
(F):5'- TTTAGTCTGAGTGAAGGCGAGC -3'
(R):5'- CCCTGTCTACTCATTAGGCGAG -3'

Sequencing Primer
(F):5'- TGGTGAGAGTAACTAGATCCCAC -3'
(R):5'- CGAGATAAAGTCACTATCCTGGGC -3'
Posted On 2019-05-13