Incidental Mutation 'R4082:Tulp4'
ID 368347
Institutional Source Beutler Lab
Gene Symbol Tulp4
Ensembl Gene ENSMUSG00000034377
Gene Name tubby like protein 4
Synonyms 2210038L17Rik, 1110057P05Rik
MMRRC Submission 041624-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.677) question?
Stock # R4082 (G1)
Quality Score 41
Status Validated
Chromosome 17
Chromosomal Location 6156528-6290912 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 6282055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 695 (H695Y)
Ref Sequence ENSEMBL: ENSMUSP00000049248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039655] [ENSMUST00000149756]
AlphaFold Q9JIL5
Predicted Effect probably damaging
Transcript: ENSMUST00000039655
AA Change: H695Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377
AA Change: H695Y

DomainStartEndE-ValueType
WD40 71 110 2.49e-1 SMART
Blast:WD40 113 153 9e-21 BLAST
WD40 159 195 1.84e1 SMART
low complexity region 226 238 N/A INTRINSIC
Blast:WD40 275 306 8e-8 BLAST
Blast:WD40 330 371 1e-14 BLAST
SOCS_box 374 411 2.31e-1 SMART
SCOP:d1c8za_ 418 505 1e-18 SMART
low complexity region 509 518 N/A INTRINSIC
low complexity region 528 547 N/A INTRINSIC
SCOP:d1c8za_ 594 669 8e-12 SMART
low complexity region 770 789 N/A INTRINSIC
low complexity region 837 864 N/A INTRINSIC
low complexity region 1021 1026 N/A INTRINSIC
low complexity region 1041 1056 N/A INTRINSIC
low complexity region 1174 1181 N/A INTRINSIC
low complexity region 1188 1197 N/A INTRINSIC
Pfam:Tub 1346 1543 2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137063
SMART Domains Protein: ENSMUSP00000123119
Gene: ENSMUSG00000034377

DomainStartEndE-ValueType
low complexity region 37 42 N/A INTRINSIC
low complexity region 57 72 N/A INTRINSIC
low complexity region 190 197 N/A INTRINSIC
low complexity region 204 213 N/A INTRINSIC
Pfam:Tub 345 537 3.3e-11 PFAM
low complexity region 603 639 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141059
Predicted Effect possibly damaging
Transcript: ENSMUST00000149756
AA Change: H502Y

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123218
Gene: ENSMUSG00000034377
AA Change: H502Y

DomainStartEndE-ValueType
low complexity region 33 45 N/A INTRINSIC
Blast:WD40 82 113 6e-8 BLAST
Blast:WD40 137 178 1e-14 BLAST
SOCS_box 181 218 2.31e-1 SMART
SCOP:d1c8za_ 225 312 2e-18 SMART
low complexity region 316 325 N/A INTRINSIC
low complexity region 335 354 N/A INTRINSIC
SCOP:d1c8za_ 401 476 9e-12 SMART
low complexity region 577 596 N/A INTRINSIC
low complexity region 644 671 N/A INTRINSIC
low complexity region 828 833 N/A INTRINSIC
low complexity region 848 863 N/A INTRINSIC
low complexity region 981 988 N/A INTRINSIC
low complexity region 995 1004 N/A INTRINSIC
coiled coil region 1187 1215 N/A INTRINSIC
Pfam:Tub 1224 1350 5.3e-26 PFAM
Meta Mutation Damage Score 0.0779 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (73/74)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T G 19: 24,043,366 (GRCm39) noncoding transcript Het
a A T 2: 154,887,678 (GRCm39) D46V probably damaging Het
Aass A T 6: 23,109,497 (GRCm39) D324E possibly damaging Het
Abca12 G T 1: 71,306,622 (GRCm39) T2028K possibly damaging Het
Abt1 T C 13: 23,606,316 (GRCm39) T213A probably benign Het
Adcy1 A C 11: 7,014,117 (GRCm39) Y173S probably damaging Het
Aim2 T C 1: 173,287,417 (GRCm39) probably null Het
Akr1d1 G A 6: 37,534,424 (GRCm39) V193M probably damaging Het
Cars1 C T 7: 143,123,234 (GRCm39) E461K probably damaging Het
Ccdc80 T C 16: 44,943,290 (GRCm39) L800P probably damaging Het
Ccl22 A G 8: 95,473,536 (GRCm39) Y27C probably damaging Het
Cdc123 G A 2: 5,815,566 (GRCm39) probably benign Het
Cldn11 A T 3: 31,217,278 (GRCm39) I149F probably benign Het
Col14a1 T C 15: 55,300,429 (GRCm39) Y986H unknown Het
Col6a3 G A 1: 90,749,605 (GRCm39) L410F probably damaging Het
Crocc T C 4: 140,761,282 (GRCm39) probably null Het
Cubn A G 2: 13,433,374 (GRCm39) probably benign Het
Cwc25 G T 11: 97,644,744 (GRCm39) Q205K probably benign Het
Cyp2e1 T C 7: 140,350,991 (GRCm39) I321T possibly damaging Het
Eps8l1 T A 7: 4,473,797 (GRCm39) probably null Het
Fasl C T 1: 161,609,420 (GRCm39) V189M probably damaging Het
Fbxw5 T C 2: 25,394,643 (GRCm39) probably null Het
Flg2 A C 3: 93,110,828 (GRCm39) E952A unknown Het
Gpd1l A T 9: 114,746,146 (GRCm39) L90Q probably damaging Het
Grik4 G T 9: 42,509,180 (GRCm39) F414L probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klhl3 C T 13: 58,166,611 (GRCm39) G407S probably null Het
Lmbr1 T C 5: 29,463,753 (GRCm39) E157G probably damaging Het
Lrp2 T A 2: 69,343,617 (GRCm39) H914L probably damaging Het
Mrpl20 A T 4: 155,892,970 (GRCm39) D67V probably damaging Het
Myo15a A G 11: 60,378,022 (GRCm39) T1346A possibly damaging Het
Naip5 A T 13: 100,382,338 (GRCm39) C124S probably damaging Het
Or10ag2 T A 2: 87,248,801 (GRCm39) Y134* probably null Het
Or13n4 T C 7: 106,423,245 (GRCm39) T163A possibly damaging Het
Or52u1 T A 7: 104,237,830 (GRCm39) V290D probably damaging Het
Osbp A G 19: 11,956,030 (GRCm39) D385G probably benign Het
Paip1 G A 13: 119,593,540 (GRCm39) D460N probably damaging Het
Pde3b T C 7: 114,093,823 (GRCm39) S356P probably benign Het
Pms2 A G 5: 143,867,837 (GRCm39) M814V probably damaging Het
Polg C A 7: 79,114,576 (GRCm39) K128N probably damaging Het
Polk G T 13: 96,620,181 (GRCm39) T694K probably benign Het
Pom121 T C 5: 135,417,491 (GRCm39) K342R unknown Het
Pou5f2 T C 13: 78,174,024 (GRCm39) L322P probably damaging Het
Prorp G T 12: 55,351,398 (GRCm39) V236F possibly damaging Het
Ptpn6 T C 6: 124,705,382 (GRCm39) D183G probably damaging Het
Pygb G A 2: 150,668,391 (GRCm39) probably null Het
Ralgds C T 2: 28,442,283 (GRCm39) probably benign Het
Ret T C 6: 118,130,927 (GRCm39) T1079A possibly damaging Het
Rspo2 A C 15: 42,885,933 (GRCm39) V241G probably benign Het
Smg1 T A 7: 117,759,469 (GRCm39) probably benign Het
Snph T C 2: 151,435,722 (GRCm39) D402G probably damaging Het
Spta1 A G 1: 174,041,632 (GRCm39) D1334G probably benign Het
Stard13 C A 5: 151,016,294 (GRCm39) probably null Het
Sufu A G 19: 46,413,541 (GRCm39) M141V probably damaging Het
Sytl2 T A 7: 90,057,635 (GRCm39) V831D possibly damaging Het
Tc2n T C 12: 101,617,414 (GRCm39) E335G possibly damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tmcc1 T A 6: 116,020,441 (GRCm39) H118L probably damaging Het
Vmn1r209 A C 13: 22,989,785 (GRCm39) L302V probably null Het
Vmn2r117 C T 17: 23,679,080 (GRCm39) V715I probably benign Het
Vopp1 A T 6: 57,766,964 (GRCm39) Y37* probably null Het
Xrn1 A G 9: 95,863,973 (GRCm39) T528A probably benign Het
Zfhx2 T C 14: 55,302,662 (GRCm39) D1774G probably benign Het
Zfp955b T A 17: 33,521,129 (GRCm39) D199E probably benign Het
Zp2 T C 7: 119,734,475 (GRCm39) S525G probably benign Het
Other mutations in Tulp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Tulp4 APN 17 6,189,351 (GRCm39) missense probably damaging 0.97
IGL02503:Tulp4 APN 17 6,263,666 (GRCm39) missense probably damaging 0.99
IGL03012:Tulp4 APN 17 6,263,654 (GRCm39) splice site probably benign
IGL03219:Tulp4 APN 17 6,189,285 (GRCm39) missense probably damaging 1.00
tuba_mirum UTSW 17 6,252,094 (GRCm39) missense probably damaging 1.00
R0066:Tulp4 UTSW 17 6,252,008 (GRCm39) missense probably damaging 0.99
R0066:Tulp4 UTSW 17 6,252,008 (GRCm39) missense probably damaging 0.99
R0711:Tulp4 UTSW 17 6,189,387 (GRCm39) missense possibly damaging 0.94
R1718:Tulp4 UTSW 17 6,272,715 (GRCm39) missense probably benign 0.39
R1736:Tulp4 UTSW 17 6,283,490 (GRCm39) missense possibly damaging 0.66
R1775:Tulp4 UTSW 17 6,189,321 (GRCm39) missense probably damaging 0.96
R1793:Tulp4 UTSW 17 6,189,387 (GRCm39) missense possibly damaging 0.94
R3160:Tulp4 UTSW 17 6,248,983 (GRCm39) start codon destroyed probably null 0.94
R3162:Tulp4 UTSW 17 6,248,983 (GRCm39) start codon destroyed probably null 0.94
R3431:Tulp4 UTSW 17 6,257,239 (GRCm39) missense probably benign 0.03
R4081:Tulp4 UTSW 17 6,282,055 (GRCm39) missense probably damaging 1.00
R4610:Tulp4 UTSW 17 6,249,108 (GRCm39) missense probably damaging 0.96
R4963:Tulp4 UTSW 17 6,249,088 (GRCm39) missense probably damaging 1.00
R4966:Tulp4 UTSW 17 6,249,088 (GRCm39) missense probably damaging 1.00
R5386:Tulp4 UTSW 17 6,286,568 (GRCm39) missense probably damaging 1.00
R6019:Tulp4 UTSW 17 6,283,490 (GRCm39) missense possibly damaging 0.66
R6275:Tulp4 UTSW 17 6,249,011 (GRCm39) missense probably damaging 1.00
R6294:Tulp4 UTSW 17 6,252,094 (GRCm39) missense probably damaging 1.00
R6587:Tulp4 UTSW 17 6,282,146 (GRCm39) missense possibly damaging 0.62
R6680:Tulp4 UTSW 17 6,189,312 (GRCm39) missense probably damaging 1.00
R7030:Tulp4 UTSW 17 6,264,941 (GRCm39) missense probably damaging 1.00
R7068:Tulp4 UTSW 17 6,235,564 (GRCm39) missense probably damaging 1.00
R7109:Tulp4 UTSW 17 6,282,055 (GRCm39) missense probably damaging 1.00
R7110:Tulp4 UTSW 17 6,282,055 (GRCm39) missense probably damaging 1.00
R7229:Tulp4 UTSW 17 6,282,055 (GRCm39) missense probably damaging 1.00
R7230:Tulp4 UTSW 17 6,282,055 (GRCm39) missense probably damaging 1.00
R7231:Tulp4 UTSW 17 6,286,510 (GRCm39) missense probably benign 0.03
R7438:Tulp4 UTSW 17 6,248,983 (GRCm39) missense probably benign 0.42
R7750:Tulp4 UTSW 17 6,283,399 (GRCm39) missense probably damaging 1.00
R8312:Tulp4 UTSW 17 6,257,333 (GRCm39) critical splice donor site probably null
R8772:Tulp4 UTSW 17 6,227,168 (GRCm39) missense probably damaging 1.00
R8821:Tulp4 UTSW 17 6,189,409 (GRCm39) missense probably damaging 0.99
R8849:Tulp4 UTSW 17 6,272,656 (GRCm39) missense probably benign 0.13
R9027:Tulp4 UTSW 17 6,283,472 (GRCm39) missense possibly damaging 0.88
R9448:Tulp4 UTSW 17 6,248,948 (GRCm39) missense possibly damaging 0.91
R9681:Tulp4 UTSW 17 6,274,500 (GRCm39) missense possibly damaging 0.86
R9748:Tulp4 UTSW 17 6,291,480 (GRCm39) critical splice donor site probably null
X0067:Tulp4 UTSW 17 6,257,198 (GRCm39) missense possibly damaging 0.93
Z1177:Tulp4 UTSW 17 6,274,480 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GTCCCTGCTGACCAATCAAAATG -3'
(R):5'- CAGGATTGGAGTACCGACTG -3'

Sequencing Primer
(F):5'- CTGACCAATCAAAATGTGCAGTTGG -3'
(R):5'- TACCGACTGGAGACTGGGTACTG -3'
Posted On 2016-01-29