Incidental Mutation 'R3907:Ighv3-4'
ID 474635
Institutional Source Beutler Lab
Gene Symbol Ighv3-4
Ensembl Gene ENSMUSG00000103939
Gene Name immunoglobulin heavy variable V3-4
Synonyms
MMRRC Submission 040908-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.209) question?
Stock # R3907 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 114217237-114217535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114217538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 18 (S18P)
Ref Sequence ENSEMBL: ENSMUSP00000141962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000193408]
AlphaFold A0A0A6YXF1
Predicted Effect probably damaging
Transcript: ENSMUST00000193408
AA Change: S18P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141962
Gene: ENSMUSG00000103939
AA Change: S18P

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGv 35 117 1.2e-29 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 C A 5: 90,009,214 (GRCm39) G150C probably damaging Het
Ampd3 A G 7: 110,392,877 (GRCm39) D215G possibly damaging Het
Ank2 A G 3: 126,810,547 (GRCm39) L513P probably damaging Het
Apba1 T C 19: 23,914,870 (GRCm39) I690T probably damaging Het
Arid1a T C 4: 133,420,223 (GRCm39) probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Asns C T 6: 7,682,270 (GRCm39) probably null Het
Aspg T A 12: 112,078,693 (GRCm39) Y57* probably null Het
Asph T C 4: 9,474,934 (GRCm39) K680R probably benign Het
Atp2b4 A T 1: 133,666,324 (GRCm39) S243T probably damaging Het
Cacna1s T A 1: 136,012,007 (GRCm39) M483K probably damaging Het
Car4 G A 11: 84,855,183 (GRCm39) V141M probably damaging Het
Cct4 A G 11: 22,951,560 (GRCm39) I376V probably benign Het
Chrm4 C T 2: 91,758,084 (GRCm39) A164V probably damaging Het
Csf3r A T 4: 125,928,240 (GRCm39) D291V probably benign Het
Dcaf6 A T 1: 165,251,949 (GRCm39) C58* probably null Het
Ddi2 T C 4: 141,411,592 (GRCm39) D440G probably benign Het
Defb4 A T 8: 19,251,277 (GRCm39) Q48L possibly damaging Het
Dnaaf9 C T 2: 130,578,496 (GRCm39) A663T probably damaging Het
Duox2 C T 2: 122,113,541 (GRCm39) probably null Het
E130308A19Rik C T 4: 59,752,393 (GRCm39) T502I probably benign Het
Ephb1 A G 9: 101,878,925 (GRCm39) C522R probably benign Het
Fam76a T C 4: 132,643,432 (GRCm39) K101E probably damaging Het
Fat1 G C 8: 45,476,072 (GRCm39) R1706T probably benign Het
Fn1 C T 1: 71,647,072 (GRCm39) G1482R probably damaging Het
Gm10110 T C 14: 90,135,583 (GRCm39) noncoding transcript Het
Gphn T A 12: 78,540,716 (GRCm39) probably benign Het
Hars1 A T 18: 36,915,769 (GRCm39) D48E probably benign Het
Hmgcll1 G A 9: 75,979,943 (GRCm39) R111H probably benign Het
Iws1 G A 18: 32,212,973 (GRCm39) E134K possibly damaging Het
Kcnj4 G T 15: 79,369,946 (GRCm39) H11Q probably benign Het
Krt16 A G 11: 100,137,989 (GRCm39) V329A possibly damaging Het
Loxhd1 A T 18: 77,496,464 (GRCm39) M1575L possibly damaging Het
Mapkapk2 A T 1: 130,984,651 (GRCm39) S234T probably damaging Het
Mxd1 G T 6: 86,627,942 (GRCm39) Q199K probably benign Het
Nlrp5 T A 7: 23,133,071 (GRCm39) D905E possibly damaging Het
Or4c117 A C 2: 88,955,927 (GRCm39) Y49* probably null Het
Or6z7 A T 7: 6,483,678 (GRCm39) V159D probably damaging Het
Otoa A T 7: 120,724,788 (GRCm39) Q489L probably damaging Het
Pced1b T C 15: 97,282,431 (GRCm39) S157P probably damaging Het
Ppp1r16b T C 2: 158,603,410 (GRCm39) I345T probably benign Het
Prrt4 G T 6: 29,177,173 (GRCm39) L199M probably damaging Het
Ptpn6 T C 6: 124,702,239 (GRCm39) D347G possibly damaging Het
Pwwp3a T C 10: 80,074,150 (GRCm39) V401A probably damaging Het
Rcan1 A G 16: 92,262,917 (GRCm39) probably benign Het
Rif1 C T 2: 52,002,557 (GRCm39) L2004F probably benign Het
Rnf185 A G 11: 3,376,681 (GRCm39) probably benign Het
Shank2 C T 7: 143,963,313 (GRCm39) P307L probably damaging Het
Slc19a3 G A 1: 82,992,534 (GRCm39) R396C possibly damaging Het
Stn1 T C 19: 47,496,262 (GRCm39) D321G probably damaging Het
Taar7a T C 10: 23,868,457 (GRCm39) Y308C probably benign Het
Tespa1 T C 10: 130,192,666 (GRCm39) probably benign Het
Tmcc2 T C 1: 132,288,376 (GRCm39) D359G probably damaging Het
Trhde C T 10: 114,636,601 (GRCm39) G202E possibly damaging Het
Trip12 T C 1: 84,709,827 (GRCm39) T469A possibly damaging Het
Trip4 A G 9: 65,740,708 (GRCm39) I533T probably benign Het
Tsc22d1 T C 14: 76,653,983 (GRCm39) I154T probably damaging Het
Ttn C A 2: 76,733,686 (GRCm39) probably benign Het
Ugt8a T C 3: 125,708,631 (GRCm39) T160A possibly damaging Het
Usp54 A T 14: 20,636,181 (GRCm39) S288T probably damaging Het
Utrn C T 10: 12,585,926 (GRCm39) probably benign Het
Other mutations in Ighv3-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3957:Ighv3-4 UTSW 12 114,217,300 (GRCm39) missense probably damaging 1.00
R4237:Ighv3-4 UTSW 12 114,217,533 (GRCm39) missense probably benign 0.00
R4238:Ighv3-4 UTSW 12 114,217,533 (GRCm39) missense probably benign 0.00
R4239:Ighv3-4 UTSW 12 114,217,533 (GRCm39) missense probably benign 0.00
R4355:Ighv3-4 UTSW 12 114,217,260 (GRCm39) missense probably benign 0.01
R5026:Ighv3-4 UTSW 12 114,217,382 (GRCm39) missense probably benign 0.03
R5745:Ighv3-4 UTSW 12 114,217,388 (GRCm39) missense probably benign 0.00
R7068:Ighv3-4 UTSW 12 114,217,274 (GRCm39) missense probably damaging 0.98
R8472:Ighv3-4 UTSW 12 114,217,649 (GRCm39) missense probably benign 0.00
R8504:Ighv3-4 UTSW 12 114,217,544 (GRCm39) missense possibly damaging 0.93
R8880:Ighv3-4 UTSW 12 114,217,535 (GRCm39) missense possibly damaging 0.64
R8991:Ighv3-4 UTSW 12 114,217,266 (GRCm39) missense probably benign 0.40
R9523:Ighv3-4 UTSW 12 114,217,393 (GRCm39) missense probably damaging 1.00
R9656:Ighv3-4 UTSW 12 114,217,295 (GRCm39) missense possibly damaging 0.79
R9756:Ighv3-4 UTSW 12 114,217,448 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-04-14