Incidental Mutation 'R1373:Card19'
ID 157414
Institutional Source Beutler Lab
Gene Symbol Card19
Ensembl Gene ENSMUSG00000037960
Gene Name caspase recruitment domain family, member 19
Synonyms 1110007C09Rik
MMRRC Submission 039437-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1373 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 49356426-49369471 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49357440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 110 (D110G)
Ref Sequence ENSEMBL: ENSMUSP00000047569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048946]
AlphaFold Q9D1I2
Predicted Effect probably damaging
Transcript: ENSMUST00000048946
AA Change: D110G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047569
Gene: ENSMUSG00000037960
AA Change: D110G

DomainStartEndE-ValueType
Pfam:CARD 40 97 9.4e-8 PFAM
low complexity region 127 140 N/A INTRINSIC
low complexity region 172 183 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223496
Meta Mutation Damage Score 0.0649 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 95.2%
Validation Efficiency 94% (34/36)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 G A 14: 68,808,400 (GRCm39) R317C probably damaging Het
Adgrl1 T C 8: 84,664,392 (GRCm39) V1261A probably benign Het
Btla G A 16: 45,044,783 (GRCm39) G23D probably benign Het
Cbx7 C T 15: 79,803,074 (GRCm39) G160R probably damaging Het
Ccng2 C T 5: 93,418,914 (GRCm39) probably benign Het
Col4a3 G A 1: 82,667,808 (GRCm39) probably benign Het
Colgalt2 A G 1: 152,348,912 (GRCm39) T186A probably damaging Het
Cps1 A G 1: 67,268,583 (GRCm39) N1437S possibly damaging Het
Dcaf1 A G 9: 106,735,079 (GRCm39) I676V probably benign Het
Dnah5 T A 15: 28,314,064 (GRCm39) probably benign Het
Dock1 T C 7: 134,768,904 (GRCm39) S1758P probably benign Het
Furin C T 7: 80,041,932 (GRCm39) probably benign Het
Ice2 G A 9: 69,314,401 (GRCm39) R50H probably benign Het
Ifi207 T A 1: 173,557,913 (GRCm39) D275V unknown Het
Nrxn2 C T 19: 6,522,331 (GRCm39) T190M probably damaging Het
Odad4 T C 11: 100,436,658 (GRCm39) F11S probably damaging Het
Or14j8 T C 17: 38,263,251 (GRCm39) I221M probably damaging Het
Or2ag17 C T 7: 106,389,963 (GRCm39) V82I probably benign Het
Pcnx3 A G 19: 5,715,544 (GRCm39) L1494P probably damaging Het
Pitrm1 G T 13: 6,620,736 (GRCm39) M739I probably benign Het
Rbm15 G T 3: 107,239,946 (GRCm39) R151S possibly damaging Het
Sfr1 C G 19: 47,723,355 (GRCm39) D286E possibly damaging Het
Slx4 A G 16: 3,803,374 (GRCm39) S1147P probably benign Het
Sry C G Y: 2,662,864 (GRCm39) Q265H unknown Het
Tgfbr3 T C 5: 107,362,809 (GRCm39) I68V probably benign Het
Tpmt A C 13: 47,180,734 (GRCm39) probably null Het
Trpm5 A G 7: 142,640,579 (GRCm39) probably benign Het
Txlnb A G 10: 17,714,695 (GRCm39) T376A probably damaging Het
Usp25 T C 16: 76,859,273 (GRCm39) probably benign Het
Vmn1r11 G A 6: 57,114,963 (GRCm39) C209Y probably benign Het
Vps13c A T 9: 67,834,793 (GRCm39) K1707N probably damaging Het
Other mutations in Card19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02063:Card19 APN 13 49,356,607 (GRCm39) nonsense probably null
R0015:Card19 UTSW 13 49,361,532 (GRCm39) missense probably benign 0.02
R0106:Card19 UTSW 13 49,361,621 (GRCm39) missense probably benign 0.02
R0106:Card19 UTSW 13 49,361,621 (GRCm39) missense probably benign 0.02
R1183:Card19 UTSW 13 49,358,727 (GRCm39) missense probably damaging 1.00
R1462:Card19 UTSW 13 49,358,760 (GRCm39) missense probably benign 0.17
R1462:Card19 UTSW 13 49,358,760 (GRCm39) missense probably benign 0.17
R7420:Card19 UTSW 13 49,361,613 (GRCm39) missense probably damaging 1.00
R8876:Card19 UTSW 13 49,358,814 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- TTGCTTAGGGGCTTGCACTCAC -3'
(R):5'- CTTATGGCAAACAAGACACACTGGC -3'

Sequencing Primer
(F):5'- TTGCACTCACCTGGAGGG -3'
(R):5'- GGAAATCCAAATCTATGCAGTGTCC -3'
Posted On 2014-02-18