Incidental Mutation 'R6603:Ighv1-23'
ID 525479
Institutional Source Beutler Lab
Gene Symbol Ighv1-23
Ensembl Gene ENSMUSG00000103290
Gene Name immunoglobulin heavy variable V1-23
Synonyms Ighv1-23, immunoglobulin heavy variable V1-23
MMRRC Submission 044726-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.722) question?
Stock # R6603 (G1)
Quality Score 209.009
Status Not validated
Chromosome 12
Chromosomal Location 114728070-114728363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114728141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 94 (S94P)
Ref Sequence ENSEMBL: ENSMUSP00000141293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000194625]
AlphaFold A0A0A6YVW3
Predicted Effect probably damaging
Transcript: ENSMUST00000194625
AA Change: S94P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141293
Gene: ENSMUSG00000103290
AA Change: S94P

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 4.5e-26 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A T 8: 25,155,518 (GRCm39) F167Y possibly damaging Het
Ap3d1 A G 10: 80,549,881 (GRCm39) S755P probably benign Het
Aph1a A T 3: 95,802,808 (GRCm39) N136I probably damaging Het
AU040320 T A 4: 126,686,046 (GRCm39) N207K probably benign Het
Caprin1 A T 2: 103,605,856 (GRCm39) D377E probably benign Het
Col18a1 A G 10: 76,899,811 (GRCm39) probably null Het
Ddi2 T C 4: 141,411,181 (GRCm39) N577S probably damaging Het
Dip2c T A 13: 9,704,624 (GRCm39) probably null Het
Dmbt1 A T 7: 130,648,240 (GRCm39) probably null Het
Fam13a T C 6: 58,964,174 (GRCm39) K86R probably benign Het
Fam168b C A 1: 34,875,822 (GRCm39) G21V probably damaging Het
Fbxl8 A T 8: 105,994,842 (GRCm39) D118V probably damaging Het
Garin5b G A 7: 4,761,431 (GRCm39) P427L possibly damaging Het
Git2 C A 5: 114,869,052 (GRCm39) probably null Het
Gm17190 T G 13: 96,218,770 (GRCm39) D35E possibly damaging Het
Gnb4 C T 3: 32,639,295 (GRCm39) D333N probably damaging Het
Has2 T A 15: 56,531,968 (GRCm39) D249V probably damaging Het
Itpr2 A G 6: 146,248,669 (GRCm39) I1029T probably damaging Het
Kctd16 T C 18: 40,391,544 (GRCm39) I44T probably benign Het
Kpna1 A G 16: 35,849,890 (GRCm39) probably null Het
Lonrf1 T A 8: 36,690,095 (GRCm39) R654S probably damaging Het
Lrrc49 A C 9: 60,501,052 (GRCm39) probably null Het
Miip T G 4: 147,950,380 (GRCm39) K72T possibly damaging Het
Mink1 C T 11: 70,500,419 (GRCm39) P782S probably damaging Het
Mpped2 A G 2: 106,697,322 (GRCm39) T266A probably benign Het
Naip1 G A 13: 100,559,578 (GRCm39) S1142F probably benign Het
Naip1 C T 13: 100,559,666 (GRCm39) G1113S probably benign Het
Nbr1 A G 11: 101,446,931 (GRCm39) probably benign Het
Necab3 A T 2: 154,396,842 (GRCm39) N46K probably damaging Het
Or51a8 A T 7: 102,549,621 (GRCm39) I16F probably benign Het
Phtf1 C T 3: 103,901,189 (GRCm39) R360C probably damaging Het
Plcl2 A G 17: 50,914,145 (GRCm39) I385V probably benign Het
Prmt8 A T 6: 127,706,376 (GRCm39) F138L probably benign Het
Prpf40a T G 2: 53,042,975 (GRCm39) R436S probably damaging Het
Rab27b T A 18: 70,118,375 (GRCm39) I181F probably damaging Het
Rasgrf1 A G 9: 89,792,310 (GRCm39) E87G probably damaging Het
Scrib T A 15: 75,934,572 (GRCm39) T674S probably benign Het
Slc9a4 A G 1: 40,662,664 (GRCm39) S644G probably benign Het
Slc9a9 G A 9: 94,821,599 (GRCm39) A329T probably damaging Het
Smc4 T C 3: 68,929,794 (GRCm39) probably null Het
Sox7 T A 14: 64,185,637 (GRCm39) H224Q probably benign Het
Spata31 T C 13: 65,070,479 (GRCm39) S876P probably damaging Het
Syndig1 G A 2: 149,845,208 (GRCm39) V244M probably damaging Het
Tas2r113 A T 6: 132,870,421 (GRCm39) I150L probably benign Het
Tasor A G 14: 27,168,343 (GRCm39) Y295C probably damaging Het
Tmem59l G A 8: 70,939,006 (GRCm39) P56L probably benign Het
Tnfrsf8 A T 4: 145,019,168 (GRCm39) D222E possibly damaging Het
Trim52 T C 14: 106,344,483 (GRCm39) L47P probably damaging Het
Ttc34 T A 4: 154,923,762 (GRCm39) I157K probably benign Het
Txndc16 A G 14: 45,389,224 (GRCm39) F492S probably damaging Het
Ubr4 A G 4: 139,182,897 (GRCm39) I428V probably benign Het
Vmn2r41 T A 7: 8,141,359 (GRCm39) I702F probably damaging Het
Wdr12 T A 1: 60,121,783 (GRCm39) H256L probably damaging Het
Xirp2 A G 2: 67,346,888 (GRCm39) H3043R probably benign Het
Xrcc1 C T 7: 24,270,459 (GRCm39) Q500* probably null Het
Zfp583 T C 7: 6,328,475 (GRCm39) N38S probably damaging Het
Other mutations in Ighv1-23
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3413:Ighv1-23 UTSW 12 114,728,087 (GRCm39) missense probably benign 0.10
R3414:Ighv1-23 UTSW 12 114,728,087 (GRCm39) missense probably benign 0.10
R4602:Ighv1-23 UTSW 12 114,728,179 (GRCm39) missense probably benign 0.27
R4911:Ighv1-23 UTSW 12 114,728,372 (GRCm39) missense possibly damaging 0.81
R5347:Ighv1-23 UTSW 12 114,728,376 (GRCm39) critical splice acceptor site probably benign
R7438:Ighv1-23 UTSW 12 114,728,095 (GRCm39) missense probably damaging 1.00
R7771:Ighv1-23 UTSW 12 114,728,356 (GRCm39) missense probably benign 0.25
R8328:Ighv1-23 UTSW 12 114,728,116 (GRCm39) missense probably damaging 1.00
R8858:Ighv1-23 UTSW 12 114,728,083 (GRCm39) missense probably benign 0.39
R9283:Ighv1-23 UTSW 12 114,728,225 (GRCm39) missense probably damaging 1.00
Z1177:Ighv1-23 UTSW 12 114,728,305 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CTTTTACAAAGGTGACAAAGGCAC -3'
(R):5'- AAGCTGTCCTGCAAGGCTTC -3'

Sequencing Primer
(F):5'- GAACATTCAAAATGACCATTTCTGGG -3'
(R):5'- CGGGCTACACATTTACTGACTATG -3'
Posted On 2018-06-22