Incidental Mutation 'R6275:Tulp4'
ID 507605
Institutional Source Beutler Lab
Gene Symbol Tulp4
Ensembl Gene ENSMUSG00000034377
Gene Name tubby like protein 4
Synonyms 2210038L17Rik, 1110057P05Rik
MMRRC Submission 044445-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.677) question?
Stock # R6275 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 6156528-6290912 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6249011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 203 (H203R)
Ref Sequence ENSEMBL: ENSMUSP00000049248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039655] [ENSMUST00000142030] [ENSMUST00000149756]
AlphaFold Q9JIL5
Predicted Effect probably damaging
Transcript: ENSMUST00000039655
AA Change: H203R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377
AA Change: H203R

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 noncoding transcript
Transcript: ENSMUST00000141059
Predicted Effect probably damaging
Transcript: ENSMUST00000142030
AA Change: H10R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120358
Gene: ENSMUSG00000034377
AA Change: H10R

DomainStartEndE-ValueType
low complexity region 33 45 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000149756
AA Change: H10R

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123218
Gene: ENSMUSG00000034377
AA Change: H10R

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 0.2001 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,833,625 (GRCm39) L30H probably damaging Het
Abcb6 T C 1: 75,149,195 (GRCm39) probably null Het
Acsbg1 T A 9: 54,517,056 (GRCm39) M586L probably benign Het
Ano6 A T 15: 95,811,314 (GRCm39) Y159F probably damaging Het
C1ql1 A G 11: 102,830,575 (GRCm39) I254T probably damaging Het
Ccdc81 T C 7: 89,531,519 (GRCm39) D318G possibly damaging Het
Ccr7 C T 11: 99,036,489 (GRCm39) M144I probably damaging Het
Cdca3 C T 6: 124,809,627 (GRCm39) probably null Het
Ces1h A T 8: 94,099,274 (GRCm39) L93I probably benign Het
Cntfr T C 4: 41,663,216 (GRCm39) D197G possibly damaging Het
Cyp2d12 C A 15: 82,440,859 (GRCm39) P126T probably benign Het
Dnah10 A G 5: 124,862,248 (GRCm39) T2225A probably damaging Het
Edrf1 A T 7: 133,269,311 (GRCm39) N1147Y possibly damaging Het
Eif1ad15 T C 12: 88,287,995 (GRCm39) D86G possibly damaging Het
Eif1ad16 T C 12: 87,985,255 (GRCm39) N96S probably benign Het
Ermap C T 4: 119,035,747 (GRCm39) V414M probably damaging Het
Fam13a A G 6: 58,931,242 (GRCm39) I446T probably damaging Het
Fgfbp3 T C 19: 36,896,153 (GRCm39) H155R possibly damaging Het
Folr1 T A 7: 101,508,742 (GRCm39) N61I probably damaging Het
Fsip1 T C 2: 118,035,583 (GRCm39) I431V probably benign Het
Gm5493 A T 17: 22,969,043 (GRCm39) E74D probably benign Het
H2-Oa A G 17: 34,313,540 (GRCm39) D197G probably benign Het
Hps1 T C 19: 42,758,046 (GRCm39) E169G probably null Het
Il17rc A T 6: 113,457,308 (GRCm39) M372L probably benign Het
Itga10 A G 3: 96,565,501 (GRCm39) S1042G probably benign Het
Jchain A T 5: 88,669,212 (GRCm39) V147E probably damaging Het
Laptm4b A G 15: 34,283,473 (GRCm39) T211A probably benign Het
Mal2 T C 15: 54,435,035 (GRCm39) probably null Het
Mov10l1 T A 15: 88,910,823 (GRCm39) I1071N probably damaging Het
Mpp2 T A 11: 101,951,795 (GRCm39) Y401F probably damaging Het
Myh15 A G 16: 48,965,610 (GRCm39) T1172A probably benign Het
Or51q1 T A 7: 103,629,181 (GRCm39) S261T probably damaging Het
Pcnx1 G T 12: 81,965,381 (GRCm39) S516I probably benign Het
Pidd1 C T 7: 141,019,708 (GRCm39) A685T probably damaging Het
Psg28 A C 7: 18,164,365 (GRCm39) Y116D probably damaging Het
Psmd11 T C 11: 80,329,458 (GRCm39) probably benign Het
Rapgefl1 T A 11: 98,741,946 (GRCm39) Y637N probably damaging Het
Rbm25 T A 12: 83,691,206 (GRCm39) M66K probably damaging Het
Rnf38 T A 4: 44,152,408 (GRCm39) H52L probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGTGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Sec62 A G 3: 30,863,985 (GRCm39) Q89R probably damaging Het
Serpina6 T A 12: 103,614,979 (GRCm39) Q289L probably benign Het
Sf3b2 A C 19: 5,333,678 (GRCm39) I640S probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc26a11 T C 11: 119,250,125 (GRCm39) F127L probably benign Het
Spata31h1 T C 10: 82,121,202 (GRCm39) D3936G probably damaging Het
Stac3 T A 10: 127,343,615 (GRCm39) Y252* probably null Het
Stoml3 G A 3: 53,414,927 (GRCm39) A240T probably damaging Het
Tanc1 A T 2: 59,673,854 (GRCm39) H1653L probably benign Het
Tll1 A T 8: 64,504,401 (GRCm39) L665* probably null Het
Tnr A C 1: 159,688,840 (GRCm39) Q434P probably damaging Het
Tpgs1 C A 10: 79,511,354 (GRCm39) D165E probably benign Het
Tsc2 A G 17: 24,819,394 (GRCm39) V1185A probably benign Het
Txnl4a T A 18: 80,261,980 (GRCm39) M72K possibly damaging Het
Usp42 G A 5: 143,700,727 (GRCm39) R1099W probably damaging Het
Zfp292 G A 4: 34,808,883 (GRCm39) A1387V possibly damaging Het
Zfp994 A T 17: 22,418,972 (GRCm39) L659* probably null 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
R4082: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
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'- TGCTGCTGGTCACGTTTCAG -3'
(R):5'- ACCTTCTCTGAGTGATGTCAC -3'

Sequencing Primer
(F):5'- CATTATAGGGACTGTCTCCTGGAAC -3'
(R):5'- GTGATGTCACTCTCTTTCCCAATG -3'
Posted On 2018-03-15