Incidental Mutation 'IGL00835:Creb3l4'
ID 12549
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Creb3l4
Ensembl Gene ENSMUSG00000027938
Gene Name cAMP responsive element binding protein 3-like 4
Synonyms 5330432F22Rik, Tisp40beta, Tisp40, ATCE1, Tisp40alpha, mJAL, 1700012K17Rik, JAL
Accession Numbers
Essential gene? Possibly essential (E-score: 0.746) question?
Stock # IGL00835
Quality Score
Status
Chromosome 3
Chromosomal Location 90144807-90150819 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90149294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 138 (H138L)
Ref Sequence ENSEMBL: ENSMUSP00000102992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029547] [ENSMUST00000107369]
AlphaFold Q9D2A5
Predicted Effect possibly damaging
Transcript: ENSMUST00000029547
AA Change: H138L

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029547
Gene: ENSMUSG00000027938
AA Change: H138L

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 76 86 N/A INTRINSIC
BRLZ 191 255 1.49e-13 SMART
low complexity region 275 291 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107369
AA Change: H138L

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102992
Gene: ENSMUSG00000027938
AA Change: H138L

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 76 86 N/A INTRINSIC
BRLZ 191 255 1.49e-13 SMART
low complexity region 275 291 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a CREB (cyclic AMP-responsive element-binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein may play a role in adiposity and male germ cell development. Homozygous knockout mice for this gene show increased adipogenesis, elevated testicular germ cell apoptosis and defects in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice display oligozoospermia but have normal fertility and sperm morphology and motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,341,892 (GRCm39) D1023G probably damaging Het
Agbl3 A G 6: 34,776,667 (GRCm39) D391G probably damaging Het
Aggf1 C A 13: 95,498,985 (GRCm39) V450F probably damaging Het
Alms1 A G 6: 85,599,116 (GRCm39) Y1314C probably damaging Het
Arfgef3 A G 10: 18,537,106 (GRCm39) F192L probably benign Het
Arnt A G 3: 95,397,651 (GRCm39) D541G probably damaging Het
AU040320 A G 4: 126,650,864 (GRCm39) probably null Het
Cep290 A T 10: 100,399,242 (GRCm39) R2255* probably null Het
Crispld2 G A 8: 120,737,387 (GRCm39) R46H probably damaging Het
Crlf3 T C 11: 79,938,501 (GRCm39) T379A probably benign Het
Ctsb T A 14: 63,373,099 (GRCm39) D85E probably damaging Het
Etv2 A T 7: 30,333,092 (GRCm39) D325E probably benign Het
Fggy T A 4: 95,725,865 (GRCm39) I335N possibly damaging Het
Fkbp1b C T 12: 4,883,726 (GRCm39) G90S probably damaging Het
Glra3 A G 8: 56,394,012 (GRCm39) probably benign Het
Gpatch8 C A 11: 102,369,375 (GRCm39) A1388S probably damaging Het
Grin2b T A 6: 135,710,568 (GRCm39) S993C probably damaging Het
Gsg1 A T 6: 135,221,090 (GRCm39) M103K possibly damaging Het
Il12rb2 A T 6: 67,337,551 (GRCm39) V110D probably damaging Het
Kat8 A G 7: 127,519,676 (GRCm39) D174G probably damaging Het
Krt82 A T 15: 101,451,813 (GRCm39) I334N probably damaging Het
Lrrfip1 C T 1: 91,043,140 (GRCm39) T515I possibly damaging Het
Lrrtm2 T A 18: 35,347,292 (GRCm39) L3F probably benign Het
Man1c1 T A 4: 134,291,843 (GRCm39) Q575L probably damaging Het
Panx1 A G 9: 14,919,140 (GRCm39) S240P probably damaging Het
Phldb2 G A 16: 45,571,819 (GRCm39) T1191I probably damaging Het
Plb1 G A 5: 32,521,516 (GRCm39) E1456K unknown Het
Prtn3 A G 10: 79,716,886 (GRCm39) T84A probably benign Het
R3hdm1 T C 1: 128,163,369 (GRCm39) probably benign Het
Sirpa G A 2: 129,451,103 (GRCm39) C121Y probably damaging Het
Slc9a3 C A 13: 74,308,421 (GRCm39) H475N probably benign Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Spata16 A T 3: 26,978,411 (GRCm39) E459V probably damaging Het
Sult2a4 T A 7: 13,643,714 (GRCm39) E284D probably benign Het
Tbc1d32 A G 10: 55,965,942 (GRCm39) probably benign Het
Thsd7a A C 6: 12,554,933 (GRCm39) V317G probably damaging Het
Trh T C 6: 92,219,770 (GRCm39) E182G probably benign Het
Tsc1 A G 2: 28,562,478 (GRCm39) D368G possibly damaging Het
Ttc39d T G 17: 80,523,955 (GRCm39) C205G probably damaging Het
Unc79 T G 12: 103,108,149 (GRCm39) probably benign Het
Vps13d A T 4: 144,887,222 (GRCm39) D724E probably damaging Het
Zc3h14 T A 12: 98,713,783 (GRCm39) probably null Het
Zfp507 G T 7: 35,475,463 (GRCm39) H917N probably damaging Het
Other mutations in Creb3l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Creb3l4 APN 3 90,150,138 (GRCm39) start codon destroyed probably null
IGL01092:Creb3l4 APN 3 90,145,045 (GRCm39) missense probably damaging 1.00
IGL02172:Creb3l4 APN 3 90,150,082 (GRCm39) missense probably benign 0.21
IGL02291:Creb3l4 APN 3 90,149,290 (GRCm39) missense probably benign 0.03
R1344:Creb3l4 UTSW 3 90,146,045 (GRCm39) missense possibly damaging 0.73
R1418:Creb3l4 UTSW 3 90,146,045 (GRCm39) missense possibly damaging 0.73
R1836:Creb3l4 UTSW 3 90,146,210 (GRCm39) missense probably benign 0.26
R2154:Creb3l4 UTSW 3 90,145,792 (GRCm39) missense probably damaging 1.00
R2877:Creb3l4 UTSW 3 90,149,615 (GRCm39) missense probably damaging 0.99
R4923:Creb3l4 UTSW 3 90,149,521 (GRCm39) missense probably benign 0.00
R6024:Creb3l4 UTSW 3 90,146,006 (GRCm39) missense probably damaging 1.00
R6683:Creb3l4 UTSW 3 90,145,112 (GRCm39) missense probably benign 0.08
R7567:Creb3l4 UTSW 3 90,149,729 (GRCm39) missense probably benign 0.00
R8749:Creb3l4 UTSW 3 90,145,199 (GRCm39) missense probably benign
R8794:Creb3l4 UTSW 3 90,145,225 (GRCm39) missense probably benign 0.04
Z1088:Creb3l4 UTSW 3 90,145,058 (GRCm39) missense possibly damaging 0.92
Posted On 2012-12-06