Incidental Mutation 'R8988:Ttc41'
ID 684238
Institutional Source Beutler Lab
Gene Symbol Ttc41
Ensembl Gene ENSMUSG00000044937
Gene Name tetratricopeptide repeat domain 41
Synonyms Gnn, BC030307
MMRRC Submission 068820-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R8988 (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 86713735 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 264 (N264K)
Ref Sequence ENSEMBL: ENSMUSP00000075059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061458] [ENSMUST00000075632] [ENSMUST00000217747] [ENSMUST00000219108]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000061458
AA Change: N264K

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062844
Gene: ENSMUSG00000044937
AA Change: N264K

DomainStartEndE-ValueType
low complexity region 216 229 N/A INTRINSIC
low complexity region 307 315 N/A INTRINSIC
Blast:AAA 336 401 9e-8 BLAST
SCOP:d1jpna2 338 370 1e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000075632
AA Change: N264K

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: N264K

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 possibly damaging
Transcript: ENSMUST00000217747
AA Change: N264K

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219108
AA Change: N264K

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 96% (81/84)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810403A07Rik A G 3: 88,699,979 (GRCm38) N330S probably benign Het
Abi2 C T 1: 60,450,092 (GRCm38) T291I probably benign Het
Aox1 A C 1: 58,049,466 (GRCm38) D137A possibly damaging Het
Apbb2 T C 5: 66,452,101 (GRCm38) K68E probably damaging Het
Arf3 A T 15: 98,741,052 (GRCm38) M108K probably benign Het
Atg2b T A 12: 105,617,129 (GRCm38) I2058F probably damaging Het
Bhlhe40 C T 6: 108,662,557 (GRCm38) L99F probably damaging Het
Cyp2b10 G A 7: 25,926,245 (GRCm38) R500H probably damaging Het
Dlc1 C T 8: 36,572,843 (GRCm38) E937K probably damaging Het
Dll3 A T 7: 28,296,368 (GRCm38) V336D possibly damaging Het
Dync2h1 A G 9: 7,037,727 (GRCm38) F3377L probably benign Het
Eef1d A G 15: 75,896,311 (GRCm38) Y561H probably damaging Het
Epb41l1 C A 2: 156,521,671 (GRCm38) T700K probably benign Het
Epha8 G T 4: 136,938,586 (GRCm38) L420M probably damaging Het
Ephb2 C A 4: 136,675,458 (GRCm38) G501C probably benign Het
Erbb3 T C 10: 128,570,161 (GRCm38) Y1129C probably damaging Het
Fbn1 C T 2: 125,370,806 (GRCm38) V799M possibly damaging Het
Fbxo9 G A 9: 78,084,651 (GRCm38) P353S probably benign Het
Ggt1 T G 10: 75,576,222 (GRCm38) V100G probably benign Het
Gm11639 T G 11: 105,020,526 (GRCm38) V4544G probably benign Het
Gm45861 T C 8: 27,542,503 (GRCm38) M885T unknown Het
Gm609 T C 16: 45,417,908 (GRCm38) H294R probably benign Het
Grin2d A T 7: 45,834,001 (GRCm38) Y917* probably null Het
Hectd4 T A 5: 121,277,756 (GRCm38) V540D possibly damaging Het
Helz T A 11: 107,604,253 (GRCm38) I351K probably damaging Het
Ighv2-6-8 A G 12: 113,796,360 (GRCm38) V43A probably damaging Het
Igkv9-129 T A 6: 67,840,122 (GRCm38) I70N probably damaging Het
Il18 A T 9: 50,577,878 (GRCm38) D69V probably damaging Het
Kcnh7 T A 2: 62,721,865 (GRCm38) E927D Het
Kcnt2 T A 1: 140,428,849 (GRCm38) V342E probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,850,378 (GRCm38) probably benign Het
Krt18 C G 15: 102,029,527 (GRCm38) A153G probably damaging Het
Lmntd2 A T 7: 141,212,064 (GRCm38) probably benign Het
Lrrc26 G T 2: 25,290,274 (GRCm38) A96S probably benign Het
Map3k11 A T 19: 5,702,138 (GRCm38) S783C probably damaging Het
Mib2 G A 4: 155,656,272 (GRCm38) L632F possibly damaging Het
Mical2 A C 7: 112,311,454 (GRCm38) D277A possibly damaging Het
Mtr A T 13: 12,235,479 (GRCm38) F339L probably benign Het
Musk T C 4: 58,354,032 (GRCm38) F362L probably benign Het
Ncor1 G A 11: 62,343,045 (GRCm38) Q444* probably null Het
Nek4 T C 14: 30,963,967 (GRCm38) S279P Het
Nell1 C T 7: 50,560,795 (GRCm38) T348I unknown Het
Nicn1 C T 9: 108,294,509 (GRCm38) R163C possibly damaging Het
Nrip1 T C 16: 76,292,014 (GRCm38) H885R probably damaging Het
Olfr1382 C A 11: 49,535,201 (GRCm38) N5K probably damaging Het
Olfr214 A G 6: 116,557,294 (GRCm38) T290A possibly damaging Het
Olfr448 T A 6: 42,897,267 (GRCm38) V272D Het
Olfr525 G A 7: 140,323,025 (GRCm38) G109R possibly damaging Het
Olfr784 T C 10: 129,388,371 (GRCm38) V246A probably damaging Het
Olfr822 T A 10: 130,074,653 (GRCm38) V81D possibly damaging Het
Otog A G 7: 46,310,147 (GRCm38) D720G probably damaging Het
P3h3 C A 6: 124,857,601 (GRCm38) Q29H possibly damaging Het
Parn A G 16: 13,648,417 (GRCm38) probably null Het
Pcnt C A 10: 76,409,573 (GRCm38) E1077* probably null Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm38) probably benign Het
Pigb A G 9: 73,022,294 (GRCm38) W336R probably damaging Het
Pkdrej A T 15: 85,816,337 (GRCm38) S1799R probably damaging Het
Pnpla6 G T 8: 3,517,401 (GRCm38) M86I possibly damaging Het
Prickle2 T C 6: 92,458,639 (GRCm38) K50E possibly damaging Het
Psg21 A G 7: 18,652,464 (GRCm38) V199A probably benign Het
Reep3 T C 10: 67,036,007 (GRCm38) probably null Het
Reln T C 5: 21,899,157 (GRCm38) D3272G probably damaging Het
Rps6ka4 A G 19: 6,831,299 (GRCm38) V526A possibly damaging Het
Sel1l3 T C 5: 53,123,429 (GRCm38) E911G probably damaging Het
Serpinb6b C A 13: 32,978,142 (GRCm38) A308E probably benign Het
Slc26a4 A G 12: 31,522,524 (GRCm38) V746A probably benign Het
Slc4a3 T G 1: 75,551,313 (GRCm38) M402R probably damaging Het
Slc9b1 A T 3: 135,373,139 (GRCm38) T186S possibly damaging Het
Slk A G 19: 47,620,273 (GRCm38) Q555R probably benign Het
Smc2 T A 4: 52,475,100 (GRCm38) D925E probably benign Het
Stat5a A T 11: 100,883,938 (GRCm38) T758S unknown Het
Sulf1 A G 1: 12,836,275 (GRCm38) S514G probably benign Het
Tcp11l1 T A 2: 104,706,508 (GRCm38) N4I probably damaging Het
Tex2 A T 11: 106,511,905 (GRCm38) I1047K unknown Het
Tmem184b A G 15: 79,377,064 (GRCm38) V114A possibly damaging Het
Trmt11 A G 10: 30,591,031 (GRCm38) V95A probably benign Het
Trp53bp2 A G 1: 182,440,868 (GRCm38) D169G possibly damaging Het
Uba2 A C 7: 34,154,562 (GRCm38) S318R probably benign Het
Wapl T A 14: 34,729,182 (GRCm38) N724K probably damaging Het
Wfdc9 T A 2: 164,651,751 (GRCm38) I5F probably damaging Het
Zan C T 5: 137,408,301 (GRCm38) D3686N unknown Het
Zfp618 A T 4: 63,094,471 (GRCm38) Y140F probably benign Het
Zfp790 A G 7: 29,828,168 (GRCm38) T93A probably benign Het
Zfp979 A C 4: 147,613,527 (GRCm38) F242V probably benign Het
Other mutations in Ttc41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00846:Ttc41 APN 10 86,736,933 (GRCm38) missense possibly damaging 0.71
IGL01373:Ttc41 APN 10 86,775,957 (GRCm38) missense possibly damaging 0.61
IGL01636:Ttc41 APN 10 86,776,678 (GRCm38) missense probably benign
IGL01707:Ttc41 APN 10 86,776,767 (GRCm38) missense probably damaging 1.00
IGL01814:Ttc41 APN 10 86,731,026 (GRCm38) missense probably damaging 0.98
IGL01845:Ttc41 APN 10 86,776,624 (GRCm38) missense probably benign 0.03
IGL01918:Ttc41 APN 10 86,713,190 (GRCm38) missense probably damaging 1.00
IGL02374:Ttc41 APN 10 86,775,951 (GRCm38) missense probably damaging 1.00
IGL02489:Ttc41 APN 10 86,760,914 (GRCm38) nonsense probably null
IGL02887:Ttc41 APN 10 86,733,654 (GRCm38) missense probably damaging 1.00
IGL03061:Ttc41 APN 10 86,736,857 (GRCm38) missense possibly damaging 0.65
IGL03077:Ttc41 APN 10 86,758,348 (GRCm38) missense probably damaging 1.00
IGL03210:Ttc41 APN 10 86,724,414 (GRCm38) critical splice donor site probably null
IGL03242:Ttc41 APN 10 86,776,819 (GRCm38) makesense probably null
IGL03307:Ttc41 APN 10 86,744,440 (GRCm38) missense possibly damaging 0.76
BB003:Ttc41 UTSW 10 86,776,047 (GRCm38) missense probably benign 0.10
BB013:Ttc41 UTSW 10 86,776,047 (GRCm38) missense probably benign 0.10
R0071:Ttc41 UTSW 10 86,736,846 (GRCm38) missense probably benign 0.01
R0071:Ttc41 UTSW 10 86,736,846 (GRCm38) missense probably benign 0.01
R0379:Ttc41 UTSW 10 86,712,977 (GRCm38) missense possibly damaging 0.65
R0384:Ttc41 UTSW 10 86,763,947 (GRCm38) missense probably damaging 1.00
R0545:Ttc41 UTSW 10 86,759,097 (GRCm38) missense probably benign 0.00
R1589:Ttc41 UTSW 10 86,776,390 (GRCm38) missense probably benign 0.01
R1599:Ttc41 UTSW 10 86,776,573 (GRCm38) missense probably benign 0.04
R1608:Ttc41 UTSW 10 86,775,993 (GRCm38) missense probably damaging 1.00
R1670:Ttc41 UTSW 10 86,776,252 (GRCm38) missense possibly damaging 0.93
R1938:Ttc41 UTSW 10 86,776,214 (GRCm38) missense probably benign
R2398:Ttc41 UTSW 10 86,713,386 (GRCm38) missense possibly damaging 0.91
R2401:Ttc41 UTSW 10 86,724,374 (GRCm38) missense probably benign 0.42
R3117:Ttc41 UTSW 10 86,724,320 (GRCm38) missense possibly damaging 0.62
R3119:Ttc41 UTSW 10 86,724,320 (GRCm38) missense possibly damaging 0.62
R4805:Ttc41 UTSW 10 86,729,798 (GRCm38) missense possibly damaging 0.62
R4840:Ttc41 UTSW 10 86,731,125 (GRCm38) missense probably benign 0.10
R4841:Ttc41 UTSW 10 86,731,125 (GRCm38) missense probably benign 0.10
R4842:Ttc41 UTSW 10 86,731,125 (GRCm38) missense probably benign 0.10
R4884:Ttc41 UTSW 10 86,731,018 (GRCm38) missense probably benign 0.00
R4885:Ttc41 UTSW 10 86,759,102 (GRCm38) missense possibly damaging 0.76
R4898:Ttc41 UTSW 10 86,776,192 (GRCm38) missense possibly damaging 0.80
R5067:Ttc41 UTSW 10 86,744,544 (GRCm38) missense probably damaging 0.96
R5253:Ttc41 UTSW 10 86,730,942 (GRCm38) missense probably benign 0.13
R5268:Ttc41 UTSW 10 86,744,478 (GRCm38) missense possibly damaging 0.76
R5297:Ttc41 UTSW 10 86,776,579 (GRCm38) missense probably benign 0.04
R5301:Ttc41 UTSW 10 86,719,520 (GRCm38) missense probably benign 0.00
R5425:Ttc41 UTSW 10 86,776,630 (GRCm38) missense probably damaging 0.96
R5567:Ttc41 UTSW 10 86,760,920 (GRCm38) critical splice donor site probably null
R5635:Ttc41 UTSW 10 86,736,977 (GRCm38) missense probably benign 0.09
R5752:Ttc41 UTSW 10 86,758,346 (GRCm38) missense probably benign 0.33
R5868:Ttc41 UTSW 10 86,750,264 (GRCm38) missense possibly damaging 0.70
R5948:Ttc41 UTSW 10 86,713,224 (GRCm38) missense probably damaging 1.00
R6116:Ttc41 UTSW 10 86,759,088 (GRCm38) critical splice acceptor site probably null
R6247:Ttc41 UTSW 10 86,776,663 (GRCm38) missense probably benign 0.00
R6260:Ttc41 UTSW 10 86,733,707 (GRCm38) missense probably benign 0.32
R6260:Ttc41 UTSW 10 86,731,159 (GRCm38) missense probably benign 0.20
R6276:Ttc41 UTSW 10 86,744,449 (GRCm38) missense probably benign 0.01
R6458:Ttc41 UTSW 10 86,758,270 (GRCm38) missense possibly damaging 0.45
R7170:Ttc41 UTSW 10 86,713,503 (GRCm38) missense probably benign 0.17
R7348:Ttc41 UTSW 10 86,750,348 (GRCm38) nonsense probably null
R7382:Ttc41 UTSW 10 86,776,510 (GRCm38) missense probably damaging 0.97
R7509:Ttc41 UTSW 10 86,713,432 (GRCm38) missense probably damaging 1.00
R7689:Ttc41 UTSW 10 86,759,224 (GRCm38) missense probably damaging 1.00
R7807:Ttc41 UTSW 10 86,776,631 (GRCm38) missense probably benign 0.02
R7926:Ttc41 UTSW 10 86,776,047 (GRCm38) missense probably benign 0.10
R7998:Ttc41 UTSW 10 86,736,847 (GRCm38) missense probably benign 0.01
R8021:Ttc41 UTSW 10 86,733,714 (GRCm38) missense probably benign
R8059:Ttc41 UTSW 10 86,712,978 (GRCm38) missense probably benign 0.01
R8170:Ttc41 UTSW 10 86,776,166 (GRCm38) missense probably damaging 1.00
R8303:Ttc41 UTSW 10 86,719,630 (GRCm38) missense probably benign 0.06
R8375:Ttc41 UTSW 10 86,763,980 (GRCm38) missense probably damaging 0.97
R8383:Ttc41 UTSW 10 86,719,526 (GRCm38) missense probably benign 0.00
R8698:Ttc41 UTSW 10 86,712,977 (GRCm38) missense probably benign 0.00
R8773:Ttc41 UTSW 10 86,729,815 (GRCm38) missense probably benign 0.35
R8902:Ttc41 UTSW 10 86,713,001 (GRCm38) missense probably benign 0.06
R8985:Ttc41 UTSW 10 86,731,092 (GRCm38) missense possibly damaging 0.80
R9007:Ttc41 UTSW 10 86,733,761 (GRCm38) missense probably damaging 1.00
R9137:Ttc41 UTSW 10 86,776,622 (GRCm38) missense probably benign 0.22
R9236:Ttc41 UTSW 10 86,776,730 (GRCm38) missense probably damaging 1.00
R9248:Ttc41 UTSW 10 86,731,249 (GRCm38) missense probably benign 0.00
R9287:Ttc41 UTSW 10 86,763,966 (GRCm38) missense probably benign 0.43
R9345:Ttc41 UTSW 10 86,759,225 (GRCm38) missense probably damaging 0.99
R9386:Ttc41 UTSW 10 86,713,026 (GRCm38) missense probably damaging 0.99
R9500:Ttc41 UTSW 10 86,729,862 (GRCm38) missense probably benign 0.03
R9570:Ttc41 UTSW 10 86,713,734 (GRCm38) missense possibly damaging 0.88
R9593:Ttc41 UTSW 10 86,713,185 (GRCm38) missense probably benign 0.24
X0024:Ttc41 UTSW 10 86,724,250 (GRCm38) missense probably damaging 1.00
X0064:Ttc41 UTSW 10 86,729,797 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCCTCAGCATATCTGTTGAACGAAC -3'
(R):5'- CTAGAGAAACAGGAGTGGCC -3'

Sequencing Primer
(F):5'- TGTTGAACGAACAGGGGAAGATG -3'
(R):5'- AAAAGTTGTCCTCTGTCCTCCAAAG -3'
Posted On 2021-10-11