Incidental Mutation 'R2344:Calm4'
ID 245931
Institutional Source Beutler Lab
Gene Symbol Calm4
Ensembl Gene ENSMUSG00000033765
Gene Name calmodulin 4
Synonyms Scarf, DD112, 2310037J09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R2344 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 3887757-3888671 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3888298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 135 (K135E)
Ref Sequence ENSEMBL: ENSMUSP00000041636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042219]
AlphaFold Q9JM83
Predicted Effect possibly damaging
Transcript: ENSMUST00000042219
AA Change: K135E

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041636
Gene: ENSMUSG00000033765
AA Change: K135E

DomainStartEndE-ValueType
EFh 12 40 4.09e-7 SMART
EFh 48 76 2.66e-6 SMART
EFh 84 112 2.62e-5 SMART
EFh 120 148 4.35e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220802
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a novel calcium binding protein expressed in the epidermis and related to the calmodulin family of calcium binding proteins. Functional studies with recombinant protein demonstrate it does bind calcium and undergoes a conformational change when it does so. Abundant expression is detected only in reconstructed epidermis and is restricted to differentiating keratinocytes. In addition, it can associate with transglutaminase 3, shown to be a key enzyme in the terminal differentiation of keratinocytes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid4b A G 13: 14,328,075 (GRCm39) Q247R probably benign Het
Bend7 A T 2: 4,793,345 (GRCm39) D383V probably damaging Het
Cdh23 T C 10: 60,152,503 (GRCm39) D2412G probably damaging Het
Col6a5 T C 9: 105,805,736 (GRCm39) T1057A unknown Het
Dpf3 T G 12: 83,397,594 (GRCm39) D90A probably damaging Het
Dtl A T 1: 191,280,490 (GRCm39) M348K probably benign Het
Elmo3 T C 8: 106,035,793 (GRCm39) Y558H probably damaging Het
Epha3 C T 16: 63,472,746 (GRCm39) V79I possibly damaging Het
Ercc5 T C 1: 44,206,329 (GRCm39) M414T probably benign Het
Fam217a T C 13: 35,094,318 (GRCm39) I389M probably damaging Het
Fsip2 T C 2: 82,820,257 (GRCm39) F5330S possibly damaging Het
Grin2a T C 16: 9,481,099 (GRCm39) I533V probably benign Het
Gsdma2 T C 11: 98,546,417 (GRCm39) L167P probably damaging Het
Gys2 A T 6: 142,391,748 (GRCm39) F505I probably damaging Het
Il6 A T 5: 30,219,854 (GRCm39) M77L probably benign Het
Or6c76b A T 10: 129,692,410 (GRCm39) T8S probably benign Het
Pgm2l1 A G 7: 99,909,115 (GRCm39) I194V probably damaging Het
Rbpjl G T 2: 164,256,312 (GRCm39) V433L probably damaging Het
Rps10 C G 17: 27,853,081 (GRCm39) R96P possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Supt16 T C 14: 52,415,575 (GRCm39) T387A probably benign Het
Usf3 C T 16: 44,036,414 (GRCm39) T298M probably benign Het
Usp49 T C 17: 47,983,828 (GRCm39) F278L probably damaging Het
Zfp729b A G 13: 67,740,352 (GRCm39) C648R probably damaging Het
Other mutations in Calm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01639:Calm4 APN 13 3,888,302 (GRCm39) missense probably damaging 1.00
R0610:Calm4 UTSW 13 3,888,320 (GRCm39) missense possibly damaging 0.70
R1686:Calm4 UTSW 13 3,888,302 (GRCm39) missense probably damaging 1.00
R6089:Calm4 UTSW 13 3,887,874 (GRCm39) start gained probably benign
R6229:Calm4 UTSW 13 3,888,038 (GRCm39) missense possibly damaging 0.67
R7072:Calm4 UTSW 13 3,888,275 (GRCm39) missense probably benign 0.00
Z1177:Calm4 UTSW 13 3,888,199 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TGATGGCAAGATCAGCTTTGAAG -3'
(R):5'- TAGTGAGCAGCTCCAGATGG -3'

Sequencing Primer
(F):5'- CAGCTTTGAAGAATTCTTGACAGCC -3'
(R):5'- GCCAATAAAGTCTTCCTCACTCATG -3'
Posted On 2014-10-30