Incidental Mutation 'R1076:Larp4'
ID 85668
Institutional Source Beutler Lab
Gene Symbol Larp4
Ensembl Gene ENSMUSG00000023025
Gene Name La ribonucleoprotein 4
Synonyms D330037H05Rik
MMRRC Submission 039162-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.413) question?
Stock # R1076 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 99867946-99914239 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99895311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 295 (T295A)
Ref Sequence ENSEMBL: ENSMUSP00000155661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057632] [ENSMUST00000100206] [ENSMUST00000230521] [ENSMUST00000230956] [ENSMUST00000231160]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000057632
AA Change: T353A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086964
Gene: ENSMUSG00000023025
AA Change: T353A

DomainStartEndE-ValueType
LA 112 190 2.44e-40 SMART
RRM 195 265 3.28e-2 SMART
low complexity region 375 388 N/A INTRINSIC
low complexity region 433 453 N/A INTRINSIC
low complexity region 457 470 N/A INTRINSIC
low complexity region 651 663 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100206
AA Change: T354A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097780
Gene: ENSMUSG00000023025
AA Change: T354A

DomainStartEndE-ValueType
LA 113 191 2.44e-40 SMART
RRM 196 266 3.28e-2 SMART
low complexity region 376 389 N/A INTRINSIC
low complexity region 434 454 N/A INTRINSIC
low complexity region 458 471 N/A INTRINSIC
low complexity region 652 664 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229553
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229891
Predicted Effect probably benign
Transcript: ENSMUST00000230521
Predicted Effect probably benign
Transcript: ENSMUST00000230956
AA Change: T355A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000231160
AA Change: T295A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0607 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang4 T C 14: 52,001,759 (GRCm39) K63R probably damaging Het
Ankrd50 T C 3: 38,509,071 (GRCm39) N176D probably damaging Het
Apbb1 A T 7: 105,223,062 (GRCm39) L183Q probably benign Het
Cdh17 T C 4: 11,795,581 (GRCm39) V387A probably benign Het
Cldn4 A G 5: 134,975,191 (GRCm39) S137P probably damaging Het
Cnn1 A T 9: 22,019,165 (GRCm39) Q157L probably damaging Het
Csn1s1 A T 5: 87,824,242 (GRCm39) probably null Het
Dennd3 C T 15: 73,412,582 (GRCm39) H415Y probably damaging Het
Dnpep A G 1: 75,292,582 (GRCm39) probably benign Het
Dram1 C A 10: 88,161,246 (GRCm39) V208L probably damaging Het
Elovl2 A G 13: 41,343,583 (GRCm39) V115A possibly damaging Het
Fryl C T 5: 73,282,016 (GRCm39) probably benign Het
Gsap A G 5: 21,492,692 (GRCm39) T707A possibly damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ktn1 T A 14: 47,932,095 (GRCm39) M674K probably damaging Het
Lrp1 T C 10: 127,399,666 (GRCm39) probably benign Het
Lypd10 A G 7: 24,413,167 (GRCm39) K162R probably benign Het
Macf1 T C 4: 123,279,391 (GRCm39) D3870G probably damaging Het
Mctp2 T G 7: 71,835,615 (GRCm39) probably null Het
Nbn A T 4: 15,970,719 (GRCm39) probably null Het
Neb A G 2: 52,094,904 (GRCm39) Y4883H probably damaging Het
Nsun6 A T 2: 15,014,283 (GRCm39) C286S probably benign Het
Pabpc4 T A 4: 123,186,701 (GRCm39) D307E possibly damaging Het
Pik3cg G A 12: 32,245,713 (GRCm39) probably benign Het
Ptpdc1 C T 13: 48,740,286 (GRCm39) E382K probably damaging Het
Serpina3k A G 12: 104,307,253 (GRCm39) T162A probably benign Het
Sis T C 3: 72,841,431 (GRCm39) T795A probably damaging Het
Skint8 T A 4: 111,784,416 (GRCm39) V14E probably damaging Het
Slc2a1 T G 4: 118,991,645 (GRCm39) M351R probably damaging Het
Slc41a3 G A 6: 90,621,142 (GRCm39) C394Y probably benign Het
Srp54b T C 12: 55,302,313 (GRCm39) probably benign Het
Ulk2 G A 11: 61,710,135 (GRCm39) H358Y probably damaging Het
Utp20 A G 10: 88,608,321 (GRCm39) M1572T probably benign Het
Utp20 A T 10: 88,608,405 (GRCm39) I1544N possibly damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Other mutations in Larp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Larp4 APN 15 99,885,302 (GRCm39) missense probably damaging 0.98
IGL01668:Larp4 APN 15 99,885,355 (GRCm39) missense probably damaging 1.00
IGL01687:Larp4 APN 15 99,894,369 (GRCm39) missense probably damaging 1.00
IGL02105:Larp4 APN 15 99,883,952 (GRCm39) missense probably damaging 1.00
IGL02676:Larp4 APN 15 99,888,302 (GRCm39) missense possibly damaging 0.94
IGL03286:Larp4 APN 15 99,883,967 (GRCm39) missense probably damaging 1.00
Skewer UTSW 15 99,905,611 (GRCm39) critical splice donor site probably null
R1996:Larp4 UTSW 15 99,882,844 (GRCm39) missense probably damaging 1.00
R2183:Larp4 UTSW 15 99,909,778 (GRCm39) missense probably benign 0.16
R2260:Larp4 UTSW 15 99,895,277 (GRCm39) missense possibly damaging 0.95
R3777:Larp4 UTSW 15 99,888,238 (GRCm39) missense probably damaging 1.00
R3916:Larp4 UTSW 15 99,888,284 (GRCm39) missense probably benign 0.00
R3962:Larp4 UTSW 15 99,910,026 (GRCm39) missense probably damaging 1.00
R5059:Larp4 UTSW 15 99,903,171 (GRCm39) missense probably damaging 1.00
R5081:Larp4 UTSW 15 99,870,898 (GRCm39) intron probably benign
R5104:Larp4 UTSW 15 99,883,964 (GRCm39) missense probably damaging 1.00
R5409:Larp4 UTSW 15 99,883,945 (GRCm39) missense probably damaging 0.98
R5436:Larp4 UTSW 15 99,883,995 (GRCm39) missense probably damaging 0.98
R6895:Larp4 UTSW 15 99,905,611 (GRCm39) critical splice donor site probably null
R7316:Larp4 UTSW 15 99,898,898 (GRCm39) missense probably benign
R7483:Larp4 UTSW 15 99,889,659 (GRCm39) missense probably benign 0.01
R7510:Larp4 UTSW 15 99,891,258 (GRCm39) missense probably benign 0.07
R8131:Larp4 UTSW 15 99,892,570 (GRCm39) missense probably damaging 0.99
R8263:Larp4 UTSW 15 99,883,961 (GRCm39) missense probably benign 0.00
R8322:Larp4 UTSW 15 99,908,237 (GRCm39) missense probably benign 0.01
R8671:Larp4 UTSW 15 99,908,339 (GRCm39) missense probably benign 0.01
R9059:Larp4 UTSW 15 99,889,693 (GRCm39) missense probably benign 0.26
R9151:Larp4 UTSW 15 99,888,205 (GRCm39) missense possibly damaging 0.88
R9444:Larp4 UTSW 15 99,909,807 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGAGCATTGCAGAAGTGTGTGAGAG -3'
(R):5'- AACTGgggggtagagagatggc -3'

Sequencing Primer
(F):5'- GCTCCCTTTCCCAATGGTAGTTT -3'
(R):5'- agagagagagagaaggcaaaac -3'
Posted On 2013-11-18