Incidental Mutation 'R5268:Dlk1'
ID 399965
Institutional Source Beutler Lab
Gene Symbol Dlk1
Ensembl Gene ENSMUSG00000040856
Gene Name delta like non-canonical Notch ligand 1
Synonyms SCP1, pref-1, pG2, Peg9, ZOG, DlkI, FA1
MMRRC Submission 042860-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.659) question?
Stock # R5268 (G1)
Quality Score 182
Status Not validated
Chromosome 12
Chromosomal Location 109418749-109429262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 109425764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 212 (S212R)
Ref Sequence ENSEMBL: ENSMUSP00000105472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056110] [ENSMUST00000109841] [ENSMUST00000109842] [ENSMUST00000109843] [ENSMUST00000109844] [ENSMUST00000109846] [ENSMUST00000124293] [ENSMUST00000173539]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000056110
AA Change: S212R

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000063104
Gene: ENSMUSG00000040856
AA Change: S212R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF 25 55 1.43e-1 SMART
EGF 56 86 1.26e-2 SMART
EGF_CA 88 125 1.77e-6 SMART
EGF 130 168 8.71e-6 SMART
EGF 175 208 1.41e-5 SMART
EGF 213 247 4.06e-6 SMART
transmembrane domain 307 329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109841
SMART Domains Protein: ENSMUSP00000105467
Gene: ENSMUSG00000040856

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF 25 55 1.43e-1 SMART
EGF 56 86 1.26e-2 SMART
EGF_CA 88 125 1.77e-6 SMART
EGF 130 168 8.71e-6 SMART
EGF 175 208 1.41e-5 SMART
transmembrane domain 214 236 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109842
AA Change: S212R

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105468
Gene: ENSMUSG00000040856
AA Change: S212R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF 25 55 1.43e-1 SMART
EGF 56 86 1.26e-2 SMART
EGF_CA 88 125 1.77e-6 SMART
EGF 130 168 8.71e-6 SMART
EGF 175 208 1.41e-5 SMART
transmembrane domain 234 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109843
SMART Domains Protein: ENSMUSP00000105469
Gene: ENSMUSG00000040856

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF 25 55 1.43e-1 SMART
EGF 56 86 1.26e-2 SMART
EGF_CA 88 125 1.77e-6 SMART
EGF 130 168 8.71e-6 SMART
EGF 175 208 1.41e-5 SMART
transmembrane domain 212 234 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109844
AA Change: S212R

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105470
Gene: ENSMUSG00000040856
AA Change: S212R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF 25 55 1.43e-1 SMART
EGF 56 86 1.26e-2 SMART
EGF_CA 88 125 1.77e-6 SMART
EGF 130 168 8.71e-6 SMART
EGF 175 208 1.41e-5 SMART
EGF 213 247 4.06e-6 SMART
transmembrane domain 307 329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109846
AA Change: S212R

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105472
Gene: ENSMUSG00000040856
AA Change: S212R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF 25 55 1.43e-1 SMART
EGF 56 86 1.26e-2 SMART
EGF_CA 88 125 1.77e-6 SMART
EGF 130 168 8.71e-6 SMART
EGF 175 208 1.41e-5 SMART
transmembrane domain 256 278 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124293
SMART Domains Protein: ENSMUSP00000133530
Gene: ENSMUSG00000040856

DomainStartEndE-ValueType
EGF 24 54 1.43e-1 SMART
EGF 55 85 1.26e-2 SMART
EGF_CA 87 124 1.77e-6 SMART
EGF 129 167 8.71e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173539
AA Change: S212R

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000133430
Gene: ENSMUSG00000040856
AA Change: S212R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF 25 55 1.43e-1 SMART
EGF 56 86 1.26e-2 SMART
EGF_CA 88 125 1.77e-6 SMART
EGF 130 168 8.71e-6 SMART
EGF 175 208 1.41e-5 SMART
transmembrane domain 232 254 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173812
SMART Domains Protein: ENSMUSP00000134308
Gene: ENSMUSG00000040856

DomainStartEndE-ValueType
SCOP:d1eqga2 2 15 4e-3 SMART
transmembrane domain 44 66 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygote null mice have reduced fetal growth and 50% lethality 2 days after birth. Survivors are small but have enlarged fat pad masses. Homozygotes for another null allele have abnormal B cell development. Paternally-inherited null alleles phenocopy homozygotes due to maternal imprinting. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,659,444 (GRCm39) E299G probably damaging Het
Adamtsl4 C A 3: 95,587,473 (GRCm39) R701L probably damaging Het
Adgrf5 T C 17: 43,761,890 (GRCm39) V1195A probably damaging Het
Agpat5 A G 8: 18,931,878 (GRCm39) T333A possibly damaging Het
Aspm G T 1: 139,392,033 (GRCm39) G795C probably damaging Het
Car4 C A 11: 84,856,626 (GRCm39) Q305K probably benign Het
Catsperg1 T C 7: 28,894,672 (GRCm39) N612S probably benign Het
Cdc5l G A 17: 45,726,511 (GRCm39) R354W probably damaging Het
Cdh9 G A 15: 16,851,099 (GRCm39) V623I probably benign Het
Cfap65 A G 1: 74,964,061 (GRCm39) V629A probably benign Het
Chd1 G A 17: 15,956,005 (GRCm39) V535I probably damaging Het
Col12a1 A G 9: 79,585,329 (GRCm39) V1316A probably damaging Het
Col6a3 A T 1: 90,712,965 (GRCm39) D1721E unknown Het
Cop1 T A 1: 159,154,734 (GRCm39) F647L probably damaging Het
Corin A C 5: 72,500,362 (GRCm39) S421A probably damaging Het
Crb2 T C 2: 37,680,833 (GRCm39) V587A probably damaging Het
Ctc1 T A 11: 68,920,636 (GRCm39) V646E possibly damaging Het
Cyp2a12 A T 7: 26,730,643 (GRCm39) M203L probably benign Het
Dcdc2c T A 12: 28,566,656 (GRCm39) K336M possibly damaging Het
Ddx39a G A 8: 84,448,950 (GRCm39) R275H probably benign Het
Dennd2b A G 7: 109,156,519 (GRCm39) L77P probably benign Het
Des A G 1: 75,339,572 (GRCm39) N310S possibly damaging Het
Dnajc5b A G 3: 19,633,224 (GRCm39) E149G probably benign Het
Dpep1 A T 8: 123,920,828 (GRCm39) I3F probably benign Het
Eml6 T A 11: 29,753,108 (GRCm39) R934S probably benign Het
Ercc6l2 T C 13: 64,016,925 (GRCm39) L676P possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Frem2 T A 3: 53,560,575 (GRCm39) I1311F probably damaging Het
Gldc T A 19: 30,123,125 (GRCm39) M257L probably damaging Het
Gm8674 T G 13: 50,055,390 (GRCm39) noncoding transcript Het
Gnai3 C T 3: 108,030,857 (GRCm39) probably null Het
Gtf3a A G 5: 146,891,965 (GRCm39) D300G probably damaging Het
Haus3 A T 5: 34,323,449 (GRCm39) V387D probably damaging Het
Hpf1 T A 8: 61,346,768 (GRCm39) F28I possibly damaging Het
Iars1 A G 13: 49,843,967 (GRCm39) D147G probably damaging Het
Ibtk A T 9: 85,625,743 (GRCm39) D2E probably benign Het
Ift140 T A 17: 25,239,601 (GRCm39) I86K possibly damaging Het
Igf2bp2 T A 16: 21,898,241 (GRCm39) I235F probably damaging Het
Ighv3-8 G T 12: 114,286,252 (GRCm39) A30E probably benign Het
Kcnq5 T A 1: 21,575,949 (GRCm39) T252S probably damaging Het
Lrrc4b A T 7: 44,110,787 (GRCm39) N220Y probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mamdc4 T C 2: 25,454,702 (GRCm39) T1037A possibly damaging Het
Mbd5 A T 2: 49,162,106 (GRCm39) I863F possibly damaging Het
Muc4 T A 16: 32,570,484 (GRCm39) S515T possibly damaging Het
Mylk4 T A 13: 32,892,864 (GRCm39) probably null Het
Neu4 G A 1: 93,952,669 (GRCm39) R346H probably benign Het
Nxpe5 T A 5: 138,238,200 (GRCm39) Y253* probably null Het
Olfml2b A T 1: 170,477,330 (GRCm39) E155V probably damaging Het
Or14a258 A G 7: 86,034,867 (GRCm39) *334Q probably null Het
Or6a2 T A 7: 106,600,111 (GRCm39) N319Y probably benign Het
Or8a1b T A 9: 37,623,300 (GRCm39) I92F probably damaging Het
Pamr1 G A 2: 102,417,029 (GRCm39) A114T probably damaging Het
Pdzd2 T A 15: 12,592,263 (GRCm39) N127I probably damaging Het
Pglyrp4 C T 3: 90,634,271 (GRCm39) L5F probably damaging Het
Plce1 T A 19: 38,747,279 (GRCm39) S1667T possibly damaging Het
Qser1 A T 2: 104,617,776 (GRCm39) V1012E possibly damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rcn3 A T 7: 44,736,203 (GRCm39) D168E probably damaging Het
Rdh1 T G 10: 127,595,832 (GRCm39) V9G possibly damaging Het
Rin2 A G 2: 145,686,680 (GRCm39) T70A probably benign Het
Rnf207 T C 4: 152,398,346 (GRCm39) D276G probably damaging Het
Rtel1 C T 2: 180,982,354 (GRCm39) S368L probably benign Het
Slc15a5 C A 6: 138,056,751 (GRCm39) C55F probably damaging Het
Slc36a4 T C 9: 15,638,212 (GRCm39) F213L possibly damaging Het
Snhg16 G T 11: 116,562,582 (GRCm39) M18I probably benign Het
Spata25 C T 2: 164,669,954 (GRCm39) G19D probably damaging Het
Tas2r102 A T 6: 132,739,360 (GRCm39) L89F probably damaging Het
Tbc1d1 A G 5: 64,481,910 (GRCm39) K704E probably damaging Het
Tert T G 13: 73,775,473 (GRCm39) S75A probably damaging Het
Tiparp T A 3: 65,454,986 (GRCm39) L195Q possibly damaging Het
Tmem205 A C 9: 21,837,380 (GRCm39) Y57* probably null Het
Tomm22 A G 15: 79,555,428 (GRCm39) R5G probably benign Het
Trav10 A T 14: 53,743,515 (GRCm39) S39C probably benign Het
Trav6-2 T A 14: 52,905,205 (GRCm39) N75K probably benign Het
Trio T C 15: 27,748,372 (GRCm39) S2427G probably benign Het
Ttc41 C A 10: 86,580,342 (GRCm39) H763N possibly damaging Het
Usp29 A T 7: 6,964,583 (GRCm39) N142I probably damaging Het
Vmn1r204 G T 13: 22,740,912 (GRCm39) W181L probably damaging Het
Vmn2r76 G A 7: 85,875,267 (GRCm39) T570M probably damaging Het
Wdr90 A G 17: 26,069,819 (GRCm39) L1173P probably damaging Het
Wnt9a T A 11: 59,219,396 (GRCm39) C141S probably damaging Het
Zfp462 A T 4: 55,012,299 (GRCm39) I1422L probably benign Het
Other mutations in Dlk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0041:Dlk1 UTSW 12 109,421,439 (GRCm39) missense probably damaging 1.00
R0379:Dlk1 UTSW 12 109,420,985 (GRCm39) unclassified probably benign
R1250:Dlk1 UTSW 12 109,425,744 (GRCm39) missense probably damaging 1.00
R1363:Dlk1 UTSW 12 109,421,430 (GRCm39) missense probably damaging 1.00
R1757:Dlk1 UTSW 12 109,425,613 (GRCm39) missense probably damaging 1.00
R1763:Dlk1 UTSW 12 109,424,045 (GRCm39) missense probably damaging 1.00
R1772:Dlk1 UTSW 12 109,425,685 (GRCm39) missense probably damaging 1.00
R2189:Dlk1 UTSW 12 109,420,975 (GRCm39) critical splice donor site probably null
R2334:Dlk1 UTSW 12 109,419,614 (GRCm39) missense probably damaging 0.96
R3751:Dlk1 UTSW 12 109,426,239 (GRCm39) missense probably benign 0.15
R5256:Dlk1 UTSW 12 109,425,697 (GRCm39) missense probably damaging 1.00
R5356:Dlk1 UTSW 12 109,421,447 (GRCm39) missense probably damaging 0.99
R5669:Dlk1 UTSW 12 109,425,964 (GRCm39) missense probably benign 0.04
R5748:Dlk1 UTSW 12 109,425,898 (GRCm39) missense probably benign 0.00
R5992:Dlk1 UTSW 12 109,421,507 (GRCm39) missense probably damaging 1.00
R6076:Dlk1 UTSW 12 109,425,895 (GRCm39) missense probably damaging 0.98
R6539:Dlk1 UTSW 12 109,426,245 (GRCm39) missense probably benign 0.01
R6638:Dlk1 UTSW 12 109,426,204 (GRCm39) missense probably damaging 1.00
R7480:Dlk1 UTSW 12 109,421,540 (GRCm39) missense probably damaging 1.00
R7553:Dlk1 UTSW 12 109,420,889 (GRCm39) missense unknown
R7602:Dlk1 UTSW 12 109,421,551 (GRCm39) critical splice donor site probably null
R8531:Dlk1 UTSW 12 109,424,066 (GRCm39) missense probably null 0.06
R9120:Dlk1 UTSW 12 109,424,051 (GRCm39) missense probably benign 0.00
R9554:Dlk1 UTSW 12 109,420,889 (GRCm39) missense unknown
X0020:Dlk1 UTSW 12 109,425,838 (GRCm39) missense probably damaging 1.00
X0053:Dlk1 UTSW 12 109,426,063 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTACAGTTCTCCCTGCCAG -3'
(R):5'- ACCTTCAGGATGTGTTGCTC -3'

Sequencing Primer
(F):5'- CGCCTGCGTGGATGATGAG -3'
(R):5'- TGAACAGGCAGCTCGTG -3'
Posted On 2016-07-06