Incidental Mutation 'R6220:Ighv3-5'
ID503967
Institutional Source Beutler Lab
Gene Symbol Ighv3-5
Ensembl Gene ENSMUSG00000076670
Gene Nameimmunoglobulin heavy variable 3-5
SynonymsGm7112
MMRRC Submission 044352-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #R6220 (G1)
Quality Score225.009
Status Validated
Chromosome12
Chromosomal Location114262652-114263087 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 114262718 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 96 (N96I)
Ref Sequence ENSEMBL: ENSMUSP00000141480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103479] [ENSMUST00000195619]
Predicted Effect probably damaging
Transcript: ENSMUST00000103479
AA Change: N78I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100260
Gene: ENSMUSG00000076670
AA Change: N78I

DomainStartEndE-ValueType
IGv 17 99 1.78e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000103480
SMART Domains Protein: ENSMUSP00000100261
Gene: ENSMUSG00000076671

DomainStartEndE-ValueType
IGv 17 98 2.24e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195594
Predicted Effect probably damaging
Transcript: ENSMUST00000195619
AA Change: N96I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141480
Gene: ENSMUSG00000076670
AA Change: N96I

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGv 35 117 7.1e-30 SMART
Meta Mutation Damage Score 0.0216 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik T C 19: 45,846,115 E618G possibly damaging Het
Abhd16b A G 2: 181,493,785 D160G probably damaging Het
Acap1 A G 11: 69,889,679 F15S probably damaging Het
Adam30 A T 3: 98,161,309 S153C probably damaging Het
Afp A T 5: 90,504,410 D420V possibly damaging Het
Ak9 T A 10: 41,370,099 H729Q unknown Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Bcr A G 10: 75,062,292 T423A probably benign Het
Cc2d1b C T 4: 108,633,225 R825W probably damaging Het
Ctns T C 11: 73,193,128 T23A probably benign Het
Ddx54 T A 5: 120,620,689 N332K probably benign Het
Dysf T A 6: 84,149,745 I1344N probably damaging Het
Elovl3 A T 19: 46,134,500 M172L probably benign Het
Fbxo6 A T 4: 148,149,522 I39N probably damaging Het
Filip1l T A 16: 57,569,989 N313K probably benign Het
Foxp2 C A 6: 15,437,948 T716K probably damaging Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gm10645 A G 8: 83,165,757 probably benign Het
Gm10735 T C 13: 113,041,496 probably benign Het
Gm4847 A T 1: 166,634,972 D316E probably damaging Het
Gorasp2 T C 2: 70,690,790 L388P probably damaging Het
Heatr5b A G 17: 78,773,677 L1382P probably damaging Het
Herc1 A G 9: 66,433,788 Y1729C probably damaging Het
Ifi207 A T 1: 173,729,546 L542H probably damaging Het
Isl1 T C 13: 116,303,267 T182A probably benign Het
Jph4 T C 14: 55,110,085 E421G probably benign Het
Lrrc45 T C 11: 120,719,527 I488T probably benign Het
Mroh8 A G 2: 157,233,163 I471T probably benign Het
Ms4a2 A T 19: 11,617,563 D96E probably damaging Het
Mst1r T A 9: 107,907,348 N68K probably benign Het
Myo18b A G 5: 112,757,507 M2075T possibly damaging Het
Neb T C 2: 52,270,972 K2229R probably null Het
Nkx6-3 T A 8: 23,153,971 probably null Het
Nlrp1a C A 11: 71,142,338 S10I probably benign Het
Npas2 A T 1: 39,336,061 T487S probably benign Het
Nrxn1 G C 17: 91,088,476 T84R probably benign Het
Olfr730 C A 14: 50,186,678 D180Y probably damaging Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Pcdh18 A G 3: 49,745,251 C921R probably damaging Het
Pcdha9 A G 18: 36,998,478 Y200C probably damaging Het
Pknox1 A T 17: 31,603,203 R315* probably null Het
Rasgrp1 C T 2: 117,284,929 W726* probably null Het
Rassf8 G A 6: 145,817,133 R402H probably damaging Het
Rev3l T A 10: 39,822,779 Y1091N probably damaging Het
Riok3 T G 18: 12,149,551 V349G probably damaging Het
Rps18 A T 17: 33,955,136 V15E probably damaging Het
Rptor A T 11: 119,897,442 Y1323F possibly damaging Het
Rspry1 T C 8: 94,658,750 C437R probably damaging Het
Sema5a T A 15: 32,686,729 Y996N probably damaging Het
Smarcad1 A G 6: 65,114,329 I1011M probably benign Het
Supv3l1 A T 10: 62,439,021 M295K possibly damaging Het
Sv2c T C 13: 95,976,626 D605G probably damaging Het
Teddm1b G A 1: 153,875,201 W252* probably null Het
Tes T A 6: 17,086,196 C29* probably null Het
Thsd4 A G 9: 59,982,747 W856R probably damaging Het
Treml4 A T 17: 48,264,848 D93V possibly damaging Het
Trim66 T C 7: 109,483,093 T218A probably damaging Het
Tssk5 T C 15: 76,373,773 D128G probably damaging Het
Ubr3 T A 2: 70,020,475 W1746R probably damaging Het
Vmn2r11 T C 5: 109,053,568 I357V probably benign Het
Vmn2r87 A T 10: 130,479,938 D86E probably benign Het
Zfp184 T G 13: 21,960,207 H694Q probably damaging Het
Zranb3 A C 1: 127,999,404 F341L probably benign Het
Other mutations in Ighv3-5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4562:Ighv3-5 UTSW 12 114262878 missense possibly damaging 0.54
R5370:Ighv3-5 UTSW 12 114262898 missense probably benign 0.15
R5373:Ighv3-5 UTSW 12 114262953 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCTCCTGCCAGAGTTTTAGAC -3'
(R):5'- AACCTTCTCAGACAGTGTTCC -3'

Sequencing Primer
(F):5'- CCTGCCAGAGTTTTAGACAAGATTG -3'
(R):5'- CTCACCTGCACTGTCACTGG -3'
Posted On2018-02-27