Incidental Mutation 'R4980:4930522L14Rik'
ID 384740
Institutional Source Beutler Lab
Gene Symbol 4930522L14Rik
Ensembl Gene ENSMUSG00000072762
Gene Name RIKEN cDNA 4930522L14 gene
Synonyms Gm42152
MMRRC Submission 042575-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R4980 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 109883856-109899752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109885292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 189 (C189S)
Ref Sequence ENSEMBL: ENSMUSP00000108166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100937] [ENSMUST00000112547]
AlphaFold E9QAG4
Predicted Effect probably benign
Transcript: ENSMUST00000100937
SMART Domains Protein: ENSMUSP00000098497
Gene: ENSMUSG00000072762

DomainStartEndE-ValueType
KRAB 4 64 5.37e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112547
AA Change: C189S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108166
Gene: ENSMUSG00000072762
AA Change: C189S

DomainStartEndE-ValueType
KRAB 4 66 7.19e-16 SMART
ZnF_C2H2 103 125 2.75e-3 SMART
ZnF_C2H2 131 153 1.72e-4 SMART
ZnF_C2H2 159 181 7.9e-4 SMART
ZnF_C2H2 187 209 1.04e-3 SMART
ZnF_C2H2 215 237 1.1e-2 SMART
ZnF_C2H2 243 265 3.89e-3 SMART
ZnF_C2H2 271 294 3.69e-4 SMART
ZnF_C2H2 300 322 5.9e-3 SMART
ZnF_C2H2 328 350 1.56e-2 SMART
ZnF_C2H2 356 378 1.18e-2 SMART
ZnF_C2H2 384 406 9.08e-4 SMART
ZnF_C2H2 412 434 1.98e-4 SMART
ZnF_C2H2 440 462 2.61e-4 SMART
ZnF_C2H2 468 491 1.38e-3 SMART
ZnF_C2H2 497 519 3.39e-3 SMART
ZnF_C2H2 525 547 1.4e-4 SMART
ZnF_C2H2 553 576 1.95e-3 SMART
ZnF_C2H2 582 604 5.14e-3 SMART
ZnF_C2H2 610 632 1.67e-2 SMART
ZnF_C2H2 638 660 1.72e-4 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A T 3: 121,562,917 (GRCm39) probably null Het
Adar T C 3: 89,638,121 (GRCm39) S2P probably benign Het
Amhr2 T A 15: 102,362,765 (GRCm39) S511T probably benign Het
Atg16l1 T C 1: 87,694,553 (GRCm39) S77P possibly damaging Het
Bltp1 T C 3: 36,997,461 (GRCm39) S1173P probably damaging Het
Cacna1i T C 15: 80,232,650 (GRCm39) F218L probably damaging Het
Cd5l A T 3: 87,274,908 (GRCm39) H149L probably benign Het
Cdc14a T A 3: 116,186,506 (GRCm39) R92* probably null Het
Col19a1 T C 1: 24,565,564 (GRCm39) T256A unknown Het
Col22a1 C T 15: 71,673,792 (GRCm39) A975T unknown Het
Cracd A T 5: 77,005,421 (GRCm39) D594V unknown Het
Cyp20a1 T C 1: 60,402,373 (GRCm39) W153R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dpyd T C 3: 118,710,767 (GRCm39) S392P probably damaging Het
Dst A T 1: 34,295,369 (GRCm39) L957F probably damaging Het
Emilin2 G T 17: 71,560,066 (GRCm39) D970E possibly damaging Het
Fbn2 T C 18: 58,143,703 (GRCm39) E2784G probably benign Het
Fbxw10 T C 11: 62,738,583 (GRCm39) I159T possibly damaging Het
Fgfr2 T C 7: 129,802,810 (GRCm39) Y192C probably damaging Het
Gm7298 A G 6: 121,736,198 (GRCm39) probably null Het
Igf2r C T 17: 12,922,247 (GRCm39) probably null Het
Ints4 T C 7: 97,151,057 (GRCm39) probably null Het
Kcnf1 A G 12: 17,225,012 (GRCm39) F403S possibly damaging Het
Kif11 C T 19: 37,375,819 (GRCm39) Q211* probably null Het
Kif13a A G 13: 46,906,222 (GRCm39) S574P possibly damaging Het
Kifc3 T A 8: 95,853,177 (GRCm39) T60S probably benign Het
Krt82 T C 15: 101,453,534 (GRCm39) D284G possibly damaging Het
Lancl1 T C 1: 67,043,968 (GRCm39) Y344C probably benign Het
Ltbp3 A T 19: 5,803,955 (GRCm39) probably null Het
Map3k4 A G 17: 12,490,958 (GRCm39) F158L probably damaging Het
Mast2 A G 4: 116,174,948 (GRCm39) Y469H probably damaging Het
Mcf2l T G 8: 13,034,883 (GRCm39) F97C probably damaging Het
Mpeg1 T C 19: 12,438,904 (GRCm39) S121P probably damaging Het
Mycbp2 A T 14: 103,497,821 (GRCm39) probably null Het
Myt1l A T 12: 29,877,038 (GRCm39) T230S unknown Het
Naa15 T C 3: 51,366,173 (GRCm39) probably null Het
Nans G A 4: 46,492,764 (GRCm39) R64Q probably benign Het
Nbea C T 3: 55,554,772 (GRCm39) probably null Het
Nbea T C 3: 55,860,466 (GRCm39) E1870G probably benign Het
Ncapd3 T C 9: 26,974,591 (GRCm39) S688P probably damaging Het
Nedd4l G T 18: 65,213,131 (GRCm39) E96* probably null Het
Or56a5 T A 7: 104,793,431 (GRCm39) Y23F probably benign Het
Or5b21 A T 19: 12,839,384 (GRCm39) M82L probably benign Het
Pdxk A G 10: 78,287,318 (GRCm39) L81P probably damaging Het
Plec T A 15: 76,077,495 (GRCm39) R269* probably null Het
Plec T C 15: 76,090,065 (GRCm39) I92V probably damaging Het
Ppara T C 15: 85,671,434 (GRCm39) Y112H probably damaging Het
Ppp2r2c A T 5: 37,109,732 (GRCm39) M364L probably benign Het
Prag1 A C 8: 36,606,740 (GRCm39) H827P probably damaging Het
Ptprg A G 14: 12,154,421 (GRCm38) N714S probably benign Het
Rbp2 G A 9: 98,380,894 (GRCm39) V67I probably benign Het
Rictor T A 15: 6,811,141 (GRCm39) Y835N probably damaging Het
Ripply2 A G 9: 86,901,747 (GRCm39) Q91R probably damaging Het
Sap130 C A 18: 31,782,699 (GRCm39) H203Q possibly damaging Het
Sema4d T C 13: 51,865,270 (GRCm39) Y358C probably damaging Het
Serbp1 G A 6: 67,254,872 (GRCm39) D294N probably benign Het
Slc16a10 A G 10: 39,956,801 (GRCm39) W113R probably damaging Het
Slc6a6 A G 6: 91,703,041 (GRCm39) Y138C probably damaging Het
Spag11a T C 8: 19,207,962 (GRCm39) M1T probably null Het
Spata20 T C 11: 94,375,435 (GRCm39) M120V probably damaging Het
Stk32a A C 18: 43,447,113 (GRCm39) K357Q probably benign Het
Tasor T A 14: 27,183,382 (GRCm39) L614I probably benign Het
Trmo A T 4: 46,389,364 (GRCm39) C10* probably null Het
Tsc22d1 T G 14: 76,655,696 (GRCm39) V643G probably benign Het
Vangl2 A T 1: 171,837,132 (GRCm39) L226I probably damaging Het
Vps35l T A 7: 118,406,232 (GRCm39) D605E probably damaging Het
Wnt3a A T 11: 59,140,626 (GRCm39) C297S probably damaging Het
Wwc1 T C 11: 35,778,930 (GRCm39) K301E possibly damaging Het
Zfhx4 C T 3: 5,464,039 (GRCm39) T1399I possibly damaging Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null Het
Other mutations in 4930522L14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02622:4930522L14Rik APN 5 109,887,101 (GRCm39) missense possibly damaging 0.86
R0164:4930522L14Rik UTSW 5 109,884,713 (GRCm39) missense probably damaging 0.96
R0164:4930522L14Rik UTSW 5 109,884,713 (GRCm39) missense probably damaging 0.96
R0432:4930522L14Rik UTSW 5 109,884,785 (GRCm39) missense probably damaging 1.00
R0463:4930522L14Rik UTSW 5 109,884,926 (GRCm39) unclassified probably benign
R0891:4930522L14Rik UTSW 5 109,884,156 (GRCm39) missense possibly damaging 0.47
R1289:4930522L14Rik UTSW 5 109,884,756 (GRCm39) nonsense probably null
R1637:4930522L14Rik UTSW 5 109,886,858 (GRCm39) missense probably benign 0.01
R1764:4930522L14Rik UTSW 5 109,884,655 (GRCm39) missense probably benign 0.22
R1793:4930522L14Rik UTSW 5 109,884,144 (GRCm39) missense probably damaging 1.00
R1860:4930522L14Rik UTSW 5 109,884,098 (GRCm39) missense probably damaging 1.00
R1899:4930522L14Rik UTSW 5 109,884,664 (GRCm39) missense probably benign 0.04
R2135:4930522L14Rik UTSW 5 109,885,509 (GRCm39) missense probably benign 0.00
R2143:4930522L14Rik UTSW 5 109,884,616 (GRCm39) missense probably damaging 1.00
R2877:4930522L14Rik UTSW 5 109,886,811 (GRCm39) splice site probably benign
R3847:4930522L14Rik UTSW 5 109,884,190 (GRCm39) splice site probably null
R4431:4930522L14Rik UTSW 5 109,884,440 (GRCm39) missense possibly damaging 0.47
R4578:4930522L14Rik UTSW 5 109,884,537 (GRCm39) nonsense probably null
R4611:4930522L14Rik UTSW 5 109,885,259 (GRCm39) missense probably benign 0.00
R4776:4930522L14Rik UTSW 5 109,884,739 (GRCm39) missense probably benign 0.22
R4921:4930522L14Rik UTSW 5 109,885,662 (GRCm39) missense probably benign 0.25
R4937:4930522L14Rik UTSW 5 109,884,067 (GRCm39) missense probably benign 0.12
R4952:4930522L14Rik UTSW 5 109,887,063 (GRCm39) critical splice donor site probably null
R5079:4930522L14Rik UTSW 5 109,885,196 (GRCm39) missense probably benign
R5088:4930522L14Rik UTSW 5 109,883,939 (GRCm39) missense probably damaging 1.00
R5143:4930522L14Rik UTSW 5 109,887,064 (GRCm39) critical splice donor site probably null
R5183:4930522L14Rik UTSW 5 109,887,171 (GRCm39) missense probably damaging 1.00
R5461:4930522L14Rik UTSW 5 109,884,643 (GRCm39) missense possibly damaging 0.74
R5498:4930522L14Rik UTSW 5 109,885,413 (GRCm39) missense probably benign 0.05
R5576:4930522L14Rik UTSW 5 109,885,570 (GRCm39) missense probably benign 0.00
R6081:4930522L14Rik UTSW 5 109,887,097 (GRCm39) missense probably damaging 1.00
R6387:4930522L14Rik UTSW 5 109,884,881 (GRCm39) missense possibly damaging 0.88
R6509:4930522L14Rik UTSW 5 109,885,250 (GRCm39) nonsense probably null
R6585:4930522L14Rik UTSW 5 109,885,534 (GRCm39) missense probably damaging 1.00
R7309:4930522L14Rik UTSW 5 109,884,819 (GRCm39) missense probably damaging 1.00
R7740:4930522L14Rik UTSW 5 109,885,370 (GRCm39) nonsense probably null
R7877:4930522L14Rik UTSW 5 109,884,230 (GRCm39) missense probably damaging 1.00
R8526:4930522L14Rik UTSW 5 109,885,655 (GRCm39) missense possibly damaging 0.92
R8884:4930522L14Rik UTSW 5 109,885,354 (GRCm39) missense probably damaging 0.98
R9047:4930522L14Rik UTSW 5 109,885,420 (GRCm39) missense
R9432:4930522L14Rik UTSW 5 109,884,917 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGTTGACCATGAAAAGCAAAGGTT -3'
(R):5'- AGCCAATTACCTTTGCAGGA -3'

Sequencing Primer
(F):5'- CCATGAAAAGCAAAGGTTTTACTAC -3'
(R):5'- CAGTCAATGTGGTAAAGCCTATGC -3'
Posted On 2016-05-10