Incidental Mutation 'R9248:Ttc41'
ID 701372
Institutional Source Beutler Lab
Gene Symbol Ttc41
Ensembl Gene ENSMUSG00000044937
Gene Name tetratricopeptide repeat domain 41
Synonyms Gnn, BC030307
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R9248 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 86705811-86776844 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86731249 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 593 (L593Q)
Ref Sequence ENSEMBL: ENSMUSP00000075059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075632] [ENSMUST00000219108]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000075632
AA Change: L593Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: L593Q

DomainStartEndE-ValueType
low complexity region 216 229 N/A INTRINSIC
low complexity region 307 315 N/A INTRINSIC
Pfam:NACHT 337 515 5.4e-10 PFAM
SCOP:d1qqea_ 805 1028 2e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000219108
AA Change: L593Q

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T C 9: 119,153,934 N132S probably benign Het
Agpat2 A G 2: 26,593,589 *279Q probably null Het
Akr1c19 C A 13: 4,242,975 D243E probably benign Het
Alg2 A G 4: 47,474,001 F96L probably benign Het
Apob C T 12: 8,015,231 Q4067* probably null Het
C1ra A T 6: 124,512,621 probably benign Het
C8a T C 4: 104,846,002 Y330C probably damaging Het
Ccdc185 A G 1: 182,748,656 V156A probably benign Het
Ces1g A G 8: 93,333,691 L100P possibly damaging Het
Cnbd1 T C 4: 18,862,113 N359S possibly damaging Het
Crybb2 C T 5: 113,063,228 A65T probably benign Het
Dcaf5 T C 12: 80,339,789 D521G probably benign Het
Dnmt1 A G 9: 20,922,112 F631L possibly damaging Het
Dok1 T A 6: 83,031,912 D263V possibly damaging Het
Ecel1 A G 1: 87,153,390 F293L probably benign Het
Ehmt1 A T 2: 24,848,065 L509Q possibly damaging Het
Fbln2 T A 6: 91,254,574 V551E possibly damaging Het
Fig4 C T 10: 41,277,482 V108I probably benign Het
Gpa33 A G 1: 166,163,827 Y209C probably damaging Het
Heatr5a T C 12: 51,916,243 H52R Het
Heatr9 A T 11: 83,518,455 D157E possibly damaging Het
Jakmip2 A C 18: 43,552,177 M682R probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,850,378 probably benign Het
Layn A G 9: 51,057,460 S328P possibly damaging Het
Mblac2 A G 13: 81,711,650 D41G probably damaging Het
Mboat1 A G 13: 30,226,409 Y283C probably damaging Het
Mdga2 A G 12: 66,689,452 V334A possibly damaging Het
Mroh4 C T 15: 74,613,318 R515H possibly damaging Het
Nicn1 C T 9: 108,294,509 R163C possibly damaging Het
Nos1 G C 5: 117,879,337 R255P probably benign Het
Nsrp1 G A 11: 77,046,210 R387W probably benign Het
Olfr483 T C 7: 108,104,049 S247P probably damaging Het
Olfr894 T C 9: 38,219,410 Y193H probably benign Het
Ostm1 T C 10: 42,698,214 V301A probably damaging Het
Pcdhb13 A T 18: 37,444,555 D662V probably damaging Het
Pfpl T A 19: 12,429,010 S208R probably damaging Het
Plin5 A T 17: 56,112,324 V366E probably damaging Het
Rmi1 A G 13: 58,409,085 I383V probably benign Het
Rnh1 T C 7: 141,160,801 T414A probably benign Het
Sash1 C A 10: 8,741,532 G537W probably damaging Het
Slc9c1 A G 16: 45,550,188 N264S probably benign Het
Speg A C 1: 75,421,776 T1956P probably damaging Het
St14 T C 9: 31,091,609 Y666C probably damaging Het
Stab2 T A 10: 86,891,617 H1448L probably damaging Het
Syne2 C T 12: 76,107,456 probably benign Het
Taf9 T A 13: 100,654,352 probably benign Het
Thumpd2 G A 17: 81,026,611 A516V possibly damaging Het
Tmem132e A G 11: 82,444,482 K797E probably damaging Het
Tpte A G 8: 22,351,473 T494A possibly damaging Het
Uggt1 A C 1: 36,210,022 I279S possibly damaging Het
Uxs1 A G 1: 43,764,924 F277S probably damaging Het
Vat1 A T 11: 101,460,554 N320K possibly damaging Het
Wdr81 G T 11: 75,445,430 A592E Het
Zfp780b C T 7: 27,973,718 probably null Het
Zfp944 A T 17: 22,343,638 probably null Het
Zfp956 G T 6: 47,957,503 G136W possibly damaging Het
Other mutations in Ttc41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00846:Ttc41 APN 10 86736933 missense possibly damaging 0.71
IGL01373:Ttc41 APN 10 86775957 missense possibly damaging 0.61
IGL01636:Ttc41 APN 10 86776678 missense probably benign
IGL01707:Ttc41 APN 10 86776767 missense probably damaging 1.00
IGL01814:Ttc41 APN 10 86731026 missense probably damaging 0.98
IGL01845:Ttc41 APN 10 86776624 missense probably benign 0.03
IGL01918:Ttc41 APN 10 86713190 missense probably damaging 1.00
IGL02374:Ttc41 APN 10 86775951 missense probably damaging 1.00
IGL02489:Ttc41 APN 10 86760914 nonsense probably null
IGL02887:Ttc41 APN 10 86733654 missense probably damaging 1.00
IGL03061:Ttc41 APN 10 86736857 missense possibly damaging 0.65
IGL03077:Ttc41 APN 10 86758348 missense probably damaging 1.00
IGL03210:Ttc41 APN 10 86724414 critical splice donor site probably null
IGL03242:Ttc41 APN 10 86776819 makesense probably null
IGL03307:Ttc41 APN 10 86744440 missense possibly damaging 0.76
BB003:Ttc41 UTSW 10 86776047 missense probably benign 0.10
BB013:Ttc41 UTSW 10 86776047 missense probably benign 0.10
R0071:Ttc41 UTSW 10 86736846 missense probably benign 0.01
R0071:Ttc41 UTSW 10 86736846 missense probably benign 0.01
R0379:Ttc41 UTSW 10 86712977 missense possibly damaging 0.65
R0384:Ttc41 UTSW 10 86763947 missense probably damaging 1.00
R0545:Ttc41 UTSW 10 86759097 missense probably benign 0.00
R1589:Ttc41 UTSW 10 86776390 missense probably benign 0.01
R1599:Ttc41 UTSW 10 86776573 missense probably benign 0.04
R1608:Ttc41 UTSW 10 86775993 missense probably damaging 1.00
R1670:Ttc41 UTSW 10 86776252 missense possibly damaging 0.93
R1938:Ttc41 UTSW 10 86776214 missense probably benign
R2398:Ttc41 UTSW 10 86713386 missense possibly damaging 0.91
R2401:Ttc41 UTSW 10 86724374 missense probably benign 0.42
R3117:Ttc41 UTSW 10 86724320 missense possibly damaging 0.62
R3119:Ttc41 UTSW 10 86724320 missense possibly damaging 0.62
R4805:Ttc41 UTSW 10 86729798 missense possibly damaging 0.62
R4840:Ttc41 UTSW 10 86731125 missense probably benign 0.10
R4841:Ttc41 UTSW 10 86731125 missense probably benign 0.10
R4842:Ttc41 UTSW 10 86731125 missense probably benign 0.10
R4884:Ttc41 UTSW 10 86731018 missense probably benign 0.00
R4885:Ttc41 UTSW 10 86759102 missense possibly damaging 0.76
R4898:Ttc41 UTSW 10 86776192 missense possibly damaging 0.80
R5067:Ttc41 UTSW 10 86744544 missense probably damaging 0.96
R5253:Ttc41 UTSW 10 86730942 missense probably benign 0.13
R5268:Ttc41 UTSW 10 86744478 missense possibly damaging 0.76
R5297:Ttc41 UTSW 10 86776579 missense probably benign 0.04
R5301:Ttc41 UTSW 10 86719520 missense probably benign 0.00
R5425:Ttc41 UTSW 10 86776630 missense probably damaging 0.96
R5567:Ttc41 UTSW 10 86760920 critical splice donor site probably null
R5635:Ttc41 UTSW 10 86736977 missense probably benign 0.09
R5752:Ttc41 UTSW 10 86758346 missense probably benign 0.33
R5868:Ttc41 UTSW 10 86750264 missense possibly damaging 0.70
R5948:Ttc41 UTSW 10 86713224 missense probably damaging 1.00
R6116:Ttc41 UTSW 10 86759088 critical splice acceptor site probably null
R6247:Ttc41 UTSW 10 86776663 missense probably benign 0.00
R6260:Ttc41 UTSW 10 86731159 missense probably benign 0.20
R6260:Ttc41 UTSW 10 86733707 missense probably benign 0.32
R6276:Ttc41 UTSW 10 86744449 missense probably benign 0.01
R6458:Ttc41 UTSW 10 86758270 missense possibly damaging 0.45
R7170:Ttc41 UTSW 10 86713503 missense probably benign 0.17
R7348:Ttc41 UTSW 10 86750348 nonsense probably null
R7382:Ttc41 UTSW 10 86776510 missense probably damaging 0.97
R7509:Ttc41 UTSW 10 86713432 missense probably damaging 1.00
R7689:Ttc41 UTSW 10 86759224 missense probably damaging 1.00
R7807:Ttc41 UTSW 10 86776631 missense probably benign 0.02
R7926:Ttc41 UTSW 10 86776047 missense probably benign 0.10
R7998:Ttc41 UTSW 10 86736847 missense probably benign 0.01
R8021:Ttc41 UTSW 10 86733714 missense probably benign
R8059:Ttc41 UTSW 10 86712978 missense probably benign 0.01
R8170:Ttc41 UTSW 10 86776166 missense probably damaging 1.00
R8303:Ttc41 UTSW 10 86719630 missense probably benign 0.06
R8375:Ttc41 UTSW 10 86763980 missense probably damaging 0.97
R8383:Ttc41 UTSW 10 86719526 missense probably benign 0.00
R8698:Ttc41 UTSW 10 86712977 missense probably benign 0.00
R8773:Ttc41 UTSW 10 86729815 missense probably benign 0.35
R8902:Ttc41 UTSW 10 86713001 missense probably benign 0.06
R8985:Ttc41 UTSW 10 86731092 missense possibly damaging 0.80
R8988:Ttc41 UTSW 10 86713735 missense possibly damaging 0.88
R9007:Ttc41 UTSW 10 86733761 missense probably damaging 1.00
R9137:Ttc41 UTSW 10 86776622 missense probably benign 0.22
R9236:Ttc41 UTSW 10 86776730 missense probably damaging 1.00
R9287:Ttc41 UTSW 10 86763966 missense probably benign 0.43
R9345:Ttc41 UTSW 10 86759225 missense probably damaging 0.99
R9386:Ttc41 UTSW 10 86713026 missense probably damaging 0.99
R9500:Ttc41 UTSW 10 86729862 missense probably benign 0.03
R9570:Ttc41 UTSW 10 86713734 missense possibly damaging 0.88
R9593:Ttc41 UTSW 10 86713185 missense probably benign 0.24
X0024:Ttc41 UTSW 10 86724250 missense probably damaging 1.00
X0064:Ttc41 UTSW 10 86729797 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAGCTCGCAATCATCGCCAG -3'
(R):5'- GAGCTGTTACTAAACTGAGAAAGGTC -3'

Sequencing Primer
(F):5'- GCAATGAGTTCCAGTGTC -3'
(R):5'- TGAGTCCAGCCTGGTCTACATAAG -3'
Posted On 2022-03-25