Incidental Mutation 'R5143:4930522L14Rik'
ID 396515
Institutional Source Beutler Lab
Gene Symbol 4930522L14Rik
Ensembl Gene ENSMUSG00000072762
Gene Name RIKEN cDNA 4930522L14 gene
Synonyms Gm42152
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R5143 (G1)
Quality Score 212
Status Not validated
Chromosome 5
Chromosomal Location 109883856-109899752 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 109887064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100937] [ENSMUST00000112547]
AlphaFold E9QAG4
Predicted Effect probably null
Transcript: ENSMUST00000100937
SMART Domains Protein: ENSMUSP00000098497
Gene: ENSMUSG00000072762

DomainStartEndE-ValueType
KRAB 4 64 5.37e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112547
SMART Domains Protein: ENSMUSP00000108166
Gene: ENSMUSG00000072762

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,810,100 (GRCm39) I886T probably benign Het
Adrb2 T C 18: 62,311,847 (GRCm39) Y326C probably damaging Het
Aplp1 G A 7: 30,140,548 (GRCm39) R334C probably damaging Het
AY358078 T C 14: 52,040,006 (GRCm39) S39P unknown Het
Bpifb2 A T 2: 153,720,424 (GRCm39) D61V probably damaging Het
Caap1 A T 4: 94,389,619 (GRCm39) N238K probably damaging Het
Cfap54 A G 10: 92,865,020 (GRCm39) V726A possibly damaging Het
Chrna7 T C 7: 62,755,895 (GRCm39) Y217C probably damaging Het
Crocc T A 4: 140,768,350 (GRCm39) T414S probably benign Het
Cyp2a12 A G 7: 26,736,036 (GRCm39) I482V probably benign Het
Dnah6 A T 6: 73,158,744 (GRCm39) F620I possibly damaging Het
Eogt A G 6: 97,102,545 (GRCm39) L256P probably damaging Het
F5 A G 1: 164,039,397 (GRCm39) I2002M probably damaging Het
Foxp1 A G 6: 98,922,493 (GRCm39) probably null Het
Fut8 A G 12: 77,411,983 (GRCm39) D111G probably benign Het
Golgb1 C T 16: 36,719,051 (GRCm39) A319V probably benign Het
Hoxd3 C T 2: 74,576,716 (GRCm39) R39C probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Or52b1 T A 7: 104,978,731 (GRCm39) I223F probably damaging Het
Pate8 T A 9: 36,493,200 (GRCm39) N41Y probably benign Het
Pcdhb2 A G 18: 37,429,785 (GRCm39) Y586C probably damaging Het
Plcd1 G A 9: 118,903,519 (GRCm39) Q442* probably null Het
Plppr5 A G 3: 117,419,552 (GRCm39) T207A probably benign Het
Pomt1 C A 2: 32,144,341 (GRCm39) A709E probably benign Het
Prmt8 A G 6: 127,709,677 (GRCm39) M61T probably benign Het
Ptpn23 A G 9: 110,214,506 (GRCm39) probably benign Het
Sbf2 T A 7: 110,021,747 (GRCm39) K493* probably null Het
Semp2l2a A G 8: 13,886,844 (GRCm39) S416P possibly damaging Het
Tmc2 A T 2: 130,076,738 (GRCm39) S355C probably damaging Het
Tonsl A G 15: 76,520,857 (GRCm39) S399P possibly damaging Het
Ttc14 T C 3: 33,863,050 (GRCm39) probably benign Het
Ttn A G 2: 76,568,409 (GRCm39) S19168P probably damaging Het
Usp17lb A T 7: 104,490,685 (GRCm39) S80T probably damaging Het
Vmn2r96 A G 17: 18,804,120 (GRCm39) I457V possibly damaging Het
Wdr64 G T 1: 175,553,979 (GRCm39) D170Y probably damaging Het
Zbtb42 T C 12: 112,645,948 (GRCm39) V41A probably damaging 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
R4980:4930522L14Rik UTSW 5 109,885,292 (GRCm39) missense probably damaging 1.00
R5079:4930522L14Rik UTSW 5 109,885,196 (GRCm39) missense probably benign
R5088:4930522L14Rik UTSW 5 109,883,939 (GRCm39) missense probably damaging 1.00
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'- AGCCTAAAACATAGTACCAGAAAATG -3'
(R):5'- CTGATGTGTGCTCAGTACTGCT -3'

Sequencing Primer
(F):5'- cctcattcttcctcattctc -3'
(R):5'- CAGTTTCCTTCTAAGATGACTTGG -3'
Posted On 2016-06-21