Incidental Mutation 'R7724:4921530L21Rik'
ID 595417
Institutional Source Beutler Lab
Gene Symbol 4921530L21Rik
Ensembl Gene ENSMUSG00000034689
Gene Name RIKEN cDNA 4921530L21 gene
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R7724 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 95881254-95882780 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95882250 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 148 (N148D)
Ref Sequence ENSEMBL: ENSMUSP00000044028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045892] [ENSMUST00000228913]
AlphaFold Q9CQ47
Predicted Effect possibly damaging
Transcript: ENSMUST00000045892
AA Change: N148D

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044028
Gene: ENSMUSG00000034689
AA Change: N148D

DomainStartEndE-ValueType
coiled coil region 36 62 N/A INTRINSIC
coiled coil region 127 175 N/A INTRINSIC
coiled coil region 200 245 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000228913
AA Change: N148D

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A C 15: 58,022,461 S342A probably benign Het
Adarb2 C A 13: 8,570,256 H259Q probably benign Het
Ak7 T A 12: 105,716,030 I150N probably damaging Het
Arhgef12 A T 9: 43,027,271 I75N probably damaging Het
Arhgef17 C T 7: 100,880,609 G480S probably damaging Het
Atic T C 1: 71,564,901 Y208H probably damaging Het
Atp8b4 T A 2: 126,322,893 N1168Y possibly damaging Het
Cdh15 G T 8: 122,866,961 D765Y probably damaging Het
Celf4 C T 18: 25,486,793 probably null Het
Cep57l1 G A 10: 41,745,842 T26M possibly damaging Het
Ces2g T A 8: 104,966,852 D388E probably benign Het
Cir1 T C 2: 73,306,890 N69S possibly damaging Het
Ctc1 C A 11: 69,026,344 H355N probably benign Het
Ebf2 A T 14: 67,424,040 K539M probably damaging Het
Ehbp1 G A 11: 22,089,572 H843Y probably null Het
Fat2 C T 11: 55,284,796 G1697E probably damaging Het
Fga A G 3: 83,029,125 D76G probably damaging Het
Fn1 A T 1: 71,603,735 S1786T probably benign Het
Frmpd1 A T 4: 45,229,888 E18D probably damaging Het
Gbp8 A T 5: 105,031,294 I113N probably damaging Het
Gm10549 A T 18: 33,470,859 R132* probably null Het
Gmps T A 3: 63,985,653 D126E possibly damaging Het
Gria4 A G 9: 4,472,074 Y472H probably damaging Het
Helz2 T C 2: 181,231,996 Y2235C probably damaging Het
Hrnr A G 3: 93,323,016 N187S unknown Het
Ifit1bl1 T C 19: 34,594,005 K351E probably benign Het
Klhl23 A G 2: 69,824,712 T309A probably benign Het
Ldhal6b A G 17: 5,418,602 V19A probably benign Het
Lrrc59 C T 11: 94,643,344 R243C probably damaging Het
Magi3 A C 3: 104,015,927 I1158R probably benign Het
Mical2 T A 7: 112,323,626 Y613N probably damaging Het
Myoc T A 1: 162,639,827 probably null Het
Npas3 C A 12: 54,068,341 S682Y possibly damaging Het
Ogdh T C 11: 6,324,887 V172A probably benign Het
Olfr1076 A G 2: 86,508,605 T49A probably damaging Het
Olfr284 A T 15: 98,340,894 S32T possibly damaging Het
Olfr325 T A 11: 58,581,382 H179Q probably benign Het
Olfr584 T A 7: 103,086,263 C243* probably null Het
Olfr682-ps1 A G 7: 105,128,252 Y52H probably damaging Het
P2rx7 A T 5: 122,673,373 I331F probably benign Het
Pcdhb14 A T 18: 37,448,884 T348S possibly damaging Het
Prdx6b A G 2: 80,293,402 E185G probably benign Het
Rdh1 A G 10: 127,764,707 K200E possibly damaging Het
Sema6c A T 3: 95,173,199 R935W probably damaging Het
Serpinb5 A T 1: 106,875,142 I136F probably damaging Het
Skint10 A T 4: 112,765,092 Y31* probably null Het
St6galnac1 C T 11: 116,766,072 probably null Het
Synj1 G A 16: 90,961,499 T819M probably damaging Het
Tacr3 T A 3: 134,929,908 V291E probably damaging Het
Tdo2 A G 3: 81,968,083 probably null Het
Tex15 T A 8: 33,546,263 D72E possibly damaging Het
Tph2 T C 10: 115,079,822 T438A probably benign Het
Uaca A G 9: 60,869,905 T525A probably benign Het
Ulk1 A T 5: 110,792,404 C384S probably benign Het
Uvrag T C 7: 98,991,963 D290G probably benign Het
Zfp541 T C 7: 16,071,994 L18P probably damaging Het
Other mutations in 4921530L21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0356:4921530L21Rik UTSW 14 95882365 missense possibly damaging 0.92
R0633:4921530L21Rik UTSW 14 95881943 missense probably damaging 1.00
R1396:4921530L21Rik UTSW 14 95882551 missense probably benign 0.01
R5561:4921530L21Rik UTSW 14 95882371 missense probably benign 0.26
R6956:4921530L21Rik UTSW 14 95882433 missense probably damaging 1.00
R7431:4921530L21Rik UTSW 14 95881837 missense probably benign 0.15
R7436:4921530L21Rik UTSW 14 95882591 missense probably benign
R7689:4921530L21Rik UTSW 14 95881816 missense probably benign
R7720:4921530L21Rik UTSW 14 95882112 missense probably benign 0.04
R7821:4921530L21Rik UTSW 14 95882050 missense possibly damaging 0.91
R8370:4921530L21Rik UTSW 14 95882494 missense probably damaging 1.00
Z1177:4921530L21Rik UTSW 14 95882130 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTCTCTGGGGCGAAAACAAAG -3'
(R):5'- TCTTCCATCTCCAGAGCAGC -3'

Sequencing Primer
(F):5'- TGGACAACCAGTTCATCAGG -3'
(R):5'- AGCCCCCTCCTTGGTCAG -3'
Posted On 2019-11-12