Incidental Mutation 'R6151:Dcbld1'
ID489272
Institutional Source Beutler Lab
Gene Symbol Dcbld1
Ensembl Gene ENSMUSG00000019891
Gene Namediscoidin, CUB and LCCL domain containing 1
Synonyms4631413K11Rik
MMRRC Submission 044298-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6151 (G1)
Quality Score225.009
Status Not validated
Chromosome10
Chromosomal Location52233619-52321378 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 52304660 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 140 (L140P)
Ref Sequence ENSEMBL: ENSMUSP00000151265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069004] [ENSMUST00000218582]
Predicted Effect probably damaging
Transcript: ENSMUST00000069004
AA Change: L211P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068203
Gene: ENSMUSG00000019891
AA Change: L211P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
CUB 32 141 6.42e-23 SMART
Pfam:LCCL 147 239 4.5e-19 PFAM
transmembrane domain 248 270 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000101116
Gene: ENSMUSG00000019891
AA Change: L140P

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
SCOP:d1sfp__ 28 69 3e-6 SMART
Pfam:LCCL 76 168 3.6e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000218582
AA Change: L140P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410141K09Rik A T 13: 66,431,681 C248S probably damaging Het
3110009E18Rik A G 1: 120,171,486 probably null Het
4930550C14Rik G T 9: 53,414,383 R73S probably damaging Het
Abca1 A G 4: 53,085,261 V517A probably benign Het
Adck5 A T 15: 76,594,687 K370N possibly damaging Het
Akap6 A C 12: 53,025,792 D981A probably damaging Het
Apbb1 G A 7: 105,574,252 R51* probably null Het
Arhgap23 A G 11: 97,500,412 M1252V probably benign Het
Arhgef1 A G 7: 24,917,942 T354A probably benign Het
Arid1a G T 4: 133,684,976 Q1636K unknown Het
Asmt C T X: 170,676,467 A237V possibly damaging Het
Brat1 T A 5: 140,705,961 C43S probably benign Het
Cd36 T C 5: 17,795,595 Y370C probably damaging Het
Ceacam12 A T 7: 18,069,105 L145F probably benign Het
Col24a1 C T 3: 145,314,054 T62I probably damaging Het
Col6a3 G T 1: 90,813,753 N652K possibly damaging Het
Dhrs13 G A 11: 78,036,982 C218Y probably damaging Het
Diaph1 T G 18: 37,853,353 E1158A probably damaging Het
Emp2 A C 16: 10,292,281 F20C probably damaging Het
Enpep T C 3: 129,332,418 I22V possibly damaging Het
Epha2 A G 4: 141,318,480 probably null Het
Eprs G T 1: 185,407,754 probably null Het
Etl4 T A 2: 20,713,360 I304N probably damaging Het
Exoc3l2 C A 7: 19,491,745 S89* probably null Het
F5 A T 1: 164,181,635 I325F probably damaging Het
F5 G A 1: 164,190,187 C611Y probably damaging Het
Fam133b A T 5: 3,559,133 S116C probably null Het
Fam13b A T 18: 34,494,277 D190E probably damaging Het
Fam169a T G 13: 97,093,630 Y58D probably damaging Het
Far1 G A 7: 113,561,396 R383H possibly damaging Het
Fnbp1l T C 3: 122,570,930 K52R possibly damaging Het
Foxj3 C A 4: 119,623,271 Q469K unknown Het
Frs3 A T 17: 47,689,088 probably benign Het
Gdpd3 A G 7: 126,775,502 S290G probably benign Het
Gm6768 T G 12: 119,261,106 noncoding transcript Het
Gmip T A 8: 69,817,085 L610Q probably damaging Het
Gprc5c T A 11: 114,864,025 I176N probably damaging Het
Grm3 A G 5: 9,511,556 F765L probably damaging Het
Hhat A T 1: 192,759,757 L2Q probably damaging Het
Hrasls5 C T 19: 7,619,291 P148S probably damaging Het
Hspbap1 T C 16: 35,817,222 S214P probably damaging Het
Ighv1-62-3 C A 12: 115,461,289 V21F probably damaging Het
Kcnj15 A T 16: 95,295,668 K50* probably null Het
Kidins220 T C 12: 25,056,909 S1454P possibly damaging Het
Kl T A 5: 150,988,853 M689K possibly damaging Het
Klhl23 T G 2: 69,824,854 L356R probably damaging Het
Kndc1 A T 7: 139,921,213 D806V probably benign Het
Krt26 T C 11: 99,337,489 E139G probably benign Het
Lefty1 T C 1: 180,935,116 F3L unknown Het
Madd A C 2: 91,165,457 Y853* probably null Het
Map1a T A 2: 121,289,823 D63E probably benign Het
Mdn1 T A 4: 32,684,735 V815E probably damaging Het
Mettl3 A G 14: 52,295,020 Y569H probably damaging Het
Mknk2 T C 10: 80,669,025 probably null Het
Mpp3 C A 11: 102,008,566 R376S probably benign Het
Nup160 T A 2: 90,690,105 Y293* probably null Het
Nupl1 A T 14: 60,244,616 F100I possibly damaging Het
Nxpe2 A C 9: 48,326,191 L255V probably benign Het
Olfr1423 T C 19: 12,036,736 E2G probably benign Het
Olfr167 A T 16: 19,515,531 L35Q probably damaging Het
Olfr390 T A 11: 73,787,695 Y252* probably null Het
Olfr479 A G 7: 108,055,899 I306V probably benign Het
Padi3 A T 4: 140,796,394 D248E probably damaging Het
Paxip1 G T 5: 27,761,618 H637N probably damaging Het
Pde4b T A 4: 102,601,551 M296K probably damaging Het
Pkd1 A G 17: 24,575,606 H2089R probably benign Het
Prpf40a T C 2: 53,157,915 M197V probably benign Het
Rhebl1 T C 15: 98,878,279 I165V probably benign Het
Rock1 A T 18: 10,106,426 V481E possibly damaging Het
Rtca T A 3: 116,507,827 T24S probably benign Het
Serpina3c T A 12: 104,152,068 I4F possibly damaging Het
Serpina3j C A 12: 104,317,390 A249E possibly damaging Het
Slc38a9 A G 13: 112,689,376 N116S probably damaging Het
Slco2b1 C T 7: 99,690,563 V58I possibly damaging Het
Slfn8 T A 11: 83,017,321 Y132F probably damaging Het
Smg6 T G 11: 75,156,207 I1242S probably damaging Het
Tap2 G T 17: 34,212,047 V374L probably benign Het
Tbc1d10b G A 7: 127,207,996 T123M probably damaging Het
Tenm2 A C 11: 36,008,783 V2516G probably damaging Het
Tenm3 C T 8: 48,395,573 R12Q probably damaging Het
Tmem130 T A 5: 144,737,851 M355L probably benign Het
Tns4 C T 11: 99,075,550 S433N probably benign Het
Traip G T 9: 107,970,619 probably null Het
Trmo G A 4: 46,389,390 R2C probably damaging Het
Ttn A T 2: 76,944,160 I2134N probably damaging Het
Uba1y A G Y: 825,984 D380G probably benign Het
Ube2t T A 1: 134,967,960 probably null Het
Ugdh A T 5: 65,417,581 Y367* probably null Het
Usp45 A C 4: 21,810,797 D331A probably damaging Het
Vmn1r84 G T 7: 12,361,914 T284K possibly damaging Het
Vmn1r91 T A 7: 20,101,435 F93Y probably benign Het
Vmn2r77 T A 7: 86,801,670 Y255N probably benign Het
Vmn2r96 A T 17: 18,583,959 Q490H probably benign Het
Vwa2 A G 19: 56,903,465 probably null Het
Vwf A G 6: 125,657,065 K169E unknown Het
Zc3h7b G C 15: 81,778,710 probably null Het
Zfp458 T A 13: 67,257,598 H259L possibly damaging Het
Zfp647 G A 15: 76,912,085 P125L probably damaging Het
Zfp804b A G 5: 6,769,910 V1051A probably benign Het
Other mutations in Dcbld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Dcbld1 APN 10 52312849 missense probably benign
IGL01974:Dcbld1 APN 10 52304681 missense probably benign 0.00
IGL01997:Dcbld1 APN 10 52317110 missense probably damaging 0.98
IGL02811:Dcbld1 APN 10 52319973 missense probably benign
IGL03011:Dcbld1 APN 10 52284148 missense probably damaging 0.98
IGL03329:Dcbld1 APN 10 52319625 missense probably damaging 0.99
IGL03048:Dcbld1 UTSW 10 52304626 missense probably damaging 1.00
R0392:Dcbld1 UTSW 10 52317134 missense possibly damaging 0.92
R0532:Dcbld1 UTSW 10 52317077 missense probably benign 0.06
R0561:Dcbld1 UTSW 10 52261936 missense probably benign 0.02
R0625:Dcbld1 UTSW 10 52312850 missense probably benign 0.38
R0907:Dcbld1 UTSW 10 52261814 missense possibly damaging 0.83
R1567:Dcbld1 UTSW 10 52319656 missense probably damaging 1.00
R1791:Dcbld1 UTSW 10 52319476 missense probably damaging 0.99
R1915:Dcbld1 UTSW 10 52317035 missense probably damaging 0.98
R1921:Dcbld1 UTSW 10 52319651 missense possibly damaging 0.94
R2119:Dcbld1 UTSW 10 52319979 missense probably benign
R2163:Dcbld1 UTSW 10 52286356 missense probably damaging 1.00
R2520:Dcbld1 UTSW 10 52319545 missense probably damaging 0.99
R3196:Dcbld1 UTSW 10 52319491 missense probably damaging 0.99
R3788:Dcbld1 UTSW 10 52319658 missense probably damaging 1.00
R4797:Dcbld1 UTSW 10 52284127 missense probably damaging 0.99
R4904:Dcbld1 UTSW 10 52319970 nonsense probably null
R5177:Dcbld1 UTSW 10 52304634 missense probably damaging 1.00
R5329:Dcbld1 UTSW 10 52284257 intron probably benign
R5456:Dcbld1 UTSW 10 52314390 missense probably damaging 1.00
R6267:Dcbld1 UTSW 10 52319480 nonsense probably null
R6421:Dcbld1 UTSW 10 52286354 missense probably damaging 1.00
R7031:Dcbld1 UTSW 10 52290889 missense probably damaging 1.00
R7738:Dcbld1 UTSW 10 52312826 missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- GCTAGAGACGTTATTCATGGGG -3'
(R):5'- CAAGTATTTTCTCGGCCGTCTG -3'

Sequencing Primer
(F):5'- TGAGTTCAAAGCCAGCCTTG -3'
(R):5'- AAAACTGCAGGCGGATTG -3'
Posted On2017-10-10