Incidental Mutation 'R4398:Khdc1a'
ID325570
Institutional Source Beutler Lab
Gene Symbol Khdc1a
Ensembl Gene ENSMUSG00000067750
Gene NameKH domain containing 1A
SynonymsNdg1
MMRRC Submission 041130-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #R4398 (G1)
Quality Score178
Status Validated
Chromosome1
Chromosomal Location21349641-21352200 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21350393 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 79 (D79G)
Ref Sequence ENSEMBL: ENSMUSP00000085749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088407]
Predicted Effect possibly damaging
Transcript: ENSMUST00000088407
AA Change: D79G

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000085749
Gene: ENSMUSG00000067750
AA Change: D79G

DomainStartEndE-ValueType
Pfam:MOEP19 6 92 3.2e-25 PFAM
transmembrane domain 136 158 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148174
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 96% (53/55)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,333,695 R871L possibly damaging Het
Adcy5 G A 16: 35,268,993 C520Y probably damaging Het
AI661453 G A 17: 47,468,117 probably benign Het
Bptf T C 11: 107,110,844 K481E probably damaging Het
Cnot10 T A 9: 114,631,881 K74* probably null Het
Ctc1 C T 11: 69,022,871 P200S probably damaging Het
Dact1 T C 12: 71,317,185 Y210H probably damaging Het
Dbn1 T C 13: 55,475,381 T430A probably benign Het
Dmd A C X: 83,722,018 T657P probably benign Het
Efnb2 C T 8: 8,620,832 R256H possibly damaging Het
Eif4a1 T C 11: 69,669,244 I116M possibly damaging Het
F730035P03Rik A T 7: 99,780,268 noncoding transcript Het
Fbn1 C T 2: 125,397,781 V329I probably benign Het
Gpr20 G A 15: 73,696,276 T88I probably benign Het
Herc1 T G 9: 66,479,453 V3783G probably benign Het
Klk1b16 A T 7: 44,141,427 I218F probably damaging Het
Malrd1 C T 2: 16,150,783 T2001I unknown Het
Mia3 A G 1: 183,330,878 S556P probably damaging Het
Myo3a T A 2: 22,577,842 D369E probably benign Het
Nelfa T C 5: 33,901,279 D279G possibly damaging Het
Ntrk3 A T 7: 78,250,769 C607* probably null Het
Olfr53 T C 7: 140,652,828 V283A possibly damaging Het
Pclo A T 5: 14,775,366 Q1371L probably damaging Het
Pdzd2 A T 15: 12,375,975 V1358E probably benign Het
Pgr T C 9: 8,903,749 probably null Het
Prag1 A G 8: 36,103,655 D464G probably damaging Het
Prickle4 A G 17: 47,690,531 probably benign Het
Prim2 A G 1: 33,512,111 Y309H probably damaging Het
Prkaa1 A G 15: 5,177,161 Q464R possibly damaging Het
Rab36 G A 10: 75,044,496 V63I probably damaging Het
Rint1 T A 5: 23,794,447 I78K possibly damaging Het
Rnf130 T A 11: 50,071,378 F217Y probably benign Het
Smad7 T C 18: 75,394,163 V360A probably damaging Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Stag1 A G 9: 100,956,606 probably benign Het
Tlr12 T A 4: 128,616,195 D754V probably benign Het
Tmf1 G A 6: 97,178,896 P43L probably damaging Het
Togaram1 A G 12: 64,980,856 N873S probably benign Het
Tsn C T 1: 118,311,069 probably benign Het
Ubn1 A G 16: 5,064,425 K250R probably damaging Het
Vmn1r25 A T 6: 57,978,827 V159D probably damaging Het
Vmn2r89 T C 14: 51,452,094 L18P probably damaging Het
Vps8 T G 16: 21,504,466 N689K probably damaging Het
Ythdc1 T A 5: 86,815,654 D30E possibly damaging Het
Ythdc1 G T 5: 86,835,820 probably benign Het
Zfp407 G A 18: 84,562,731 Q86* probably null Het
Zfp521 C T 18: 13,846,544 E271K probably benign Het
Other mutations in Khdc1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Khdc1a APN 1 21350988 missense probably benign 0.00
R1169:Khdc1a UTSW 1 21350271 missense possibly damaging 0.51
R1389:Khdc1a UTSW 1 21350027 missense probably damaging 0.98
R1432:Khdc1a UTSW 1 21350318 missense possibly damaging 0.85
R1629:Khdc1a UTSW 1 21350897 missense possibly damaging 0.73
R1735:Khdc1a UTSW 1 21350965 missense probably benign 0.00
R2064:Khdc1a UTSW 1 21350972 missense probably benign 0.00
R2065:Khdc1a UTSW 1 21350972 missense probably benign 0.00
R4575:Khdc1a UTSW 1 21350429 missense probably damaging 0.97
R6030:Khdc1a UTSW 1 21350884 missense probably benign 0.01
R6030:Khdc1a UTSW 1 21350884 missense probably benign 0.01
R6183:Khdc1a UTSW 1 21350108 missense possibly damaging 0.80
R7492:Khdc1a UTSW 1 21350318 missense possibly damaging 0.93
R7861:Khdc1a UTSW 1 21350399 missense possibly damaging 0.52
R7982:Khdc1a UTSW 1 21350906 missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- TGGTGTTTCACATGTGCTATTACC -3'
(R):5'- TGCTTTACAGCTACTCCTAAAGAGG -3'

Sequencing Primer
(F):5'- GTGCTATTACCTCTTCTGTGAACAGG -3'
(R):5'- GGCATCAAAGCACTGGATTTC -3'
Posted On2015-07-06