Incidental Mutation 'R2001:BC051019'
ID 225937
Institutional Source Beutler Lab
Gene Symbol BC051019
Ensembl Gene ENSMUSG00000031022
Gene Name cDNA sequence BC051019
Synonyms D7H11orf16, ICRFP703N2430Q5.5
MMRRC Submission 040011-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R2001 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 109311388-109323057 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 109319758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 102 (Q102*)
Ref Sequence ENSEMBL: ENSMUSP00000102346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033334] [ENSMUST00000106735] [ENSMUST00000145211]
AlphaFold Q9JJR6
Predicted Effect probably null
Transcript: ENSMUST00000033334
AA Change: Q102*
SMART Domains Protein: ENSMUSP00000033334
Gene: ENSMUSG00000031022
AA Change: Q102*

DomainStartEndE-ValueType
Pfam:DUF4537 85 225 1.1e-41 PFAM
low complexity region 258 284 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000106735
AA Change: Q102*
SMART Domains Protein: ENSMUSP00000102346
Gene: ENSMUSG00000031022
AA Change: Q102*

DomainStartEndE-ValueType
Pfam:DUF4537 85 225 6.3e-44 PFAM
low complexity region 258 284 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145211
AA Change: S32L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000115006
Gene: ENSMUSG00000031022
AA Change: S32L

DomainStartEndE-ValueType
Pfam:DUF4537 24 77 8.3e-12 PFAM
low complexity region 110 136 N/A INTRINSIC
low complexity region 186 199 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,571,800 (GRCm39) S559P probably benign Het
A430005L14Rik T A 4: 154,044,314 (GRCm39) C42S probably damaging Het
Abca13 A T 11: 9,223,967 (GRCm39) T449S probably benign Het
Acvr1c T A 2: 58,205,987 (GRCm39) Q41L probably benign Het
Adamts13 C T 2: 26,864,002 (GRCm39) P60L probably benign Het
Adamts20 T C 15: 94,245,599 (GRCm39) T568A possibly damaging Het
Ago1 T C 4: 126,348,187 (GRCm39) I44V probably null Het
Agtpbp1 TGAAGATGCATCTTGAGAAGA TGAAGA 13: 59,623,617 (GRCm39) probably null Het
Ankrd28 A T 14: 31,467,293 (GRCm39) V39E possibly damaging Het
Apaf1 A G 10: 90,897,676 (GRCm39) V269A possibly damaging Het
Astn1 A G 1: 158,348,091 (GRCm39) N506D probably damaging Het
Bpifb5 A G 2: 154,075,199 (GRCm39) T376A possibly damaging Het
Ccdc121rt1 G T 1: 181,338,551 (GRCm39) Q134K probably benign Het
Ccl20 ATT ATTT 1: 83,095,576 (GRCm39) probably null Het
Ccl6 G T 11: 83,480,163 (GRCm39) P68T possibly damaging Het
Cd300ld A T 11: 114,878,156 (GRCm39) F119I probably benign Het
Cdk2ap2 A G 19: 4,147,903 (GRCm39) M57V possibly damaging Het
Cemip2 A G 19: 21,779,351 (GRCm39) D387G probably benign Het
Chkb C T 15: 89,312,969 (GRCm39) G36E probably damaging Het
Col11a1 A G 3: 113,958,942 (GRCm39) probably null Het
Ctla2b T C 13: 61,043,881 (GRCm39) Y120C probably damaging Het
Ctnnd1 T C 2: 84,450,704 (GRCm39) N172S probably benign Het
Cyp2a22 G A 7: 26,634,197 (GRCm39) P319L probably damaging Het
Dcaf12 A C 4: 41,302,804 (GRCm39) V117G probably damaging Het
Ddx6 A G 9: 44,518,831 (GRCm39) T48A probably benign Het
Dgki T C 6: 36,842,736 (GRCm39) D923G possibly damaging Het
Dhx37 G T 5: 125,504,528 (GRCm39) T345K probably damaging Het
Dhx9 A T 1: 153,331,857 (GRCm39) Y1370* probably null Het
Dnah7b T C 1: 46,181,247 (GRCm39) S1045P possibly damaging Het
Dnmbp G C 19: 43,838,612 (GRCm39) T1071S possibly damaging Het
Dspp T A 5: 104,326,425 (GRCm39) S929R unknown Het
Dst A T 1: 34,223,144 (GRCm39) E1625D probably damaging Het
Egflam T A 15: 7,272,048 (GRCm39) H630L probably benign Het
Elane T C 10: 79,723,593 (GRCm39) V186A possibly damaging Het
Fam209 C A 2: 172,314,689 (GRCm39) N59K probably benign Het
Gbe1 A G 16: 70,325,814 (GRCm39) E617G probably damaging Het
Get3 T C 8: 85,751,789 (GRCm39) S36G probably damaging Het
Gfra1 A G 19: 58,288,707 (GRCm39) L246P probably damaging Het
Gria2 T C 3: 80,618,112 (GRCm39) T308A probably benign Het
Grip2 A T 6: 91,756,831 (GRCm39) V540D probably benign Het
Hhipl1 A T 12: 108,288,118 (GRCm39) I575F possibly damaging Het
Hmcn1 T A 1: 150,614,364 (GRCm39) E1347D possibly damaging Het
Itga2b C A 11: 102,358,165 (GRCm39) A187S probably benign Het
Kalrn C A 16: 33,848,415 (GRCm39) R469M probably damaging Het
Kif23 A T 9: 61,834,666 (GRCm39) C426* probably null Het
Lck T C 4: 129,442,730 (GRCm39) N475S probably benign Het
Leng8 A G 7: 4,148,073 (GRCm39) N642S probably damaging Het
Lingo4 T A 3: 94,310,382 (GRCm39) I440N probably damaging Het
Lrrc4 A G 6: 28,830,904 (GRCm39) F237S probably damaging Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Naip2 A T 13: 100,281,096 (GRCm39) I1316N probably damaging Het
Naip6 C T 13: 100,437,237 (GRCm39) G429S probably benign Het
Noct C T 3: 51,155,465 (GRCm39) R78C probably damaging Het
Npbwr1 A G 1: 5,987,394 (GRCm39) V40A possibly damaging Het
Nsd2 A G 5: 34,000,746 (GRCm39) N88D probably damaging Het
Or1e29 T A 11: 73,667,539 (GRCm39) I205F probably benign Het
Or5ap2 T A 2: 85,680,744 (GRCm39) V316E probably benign Het
Or6c210 T A 10: 129,496,290 (GRCm39) I205N probably benign Het
Or8k28 T C 2: 86,285,817 (GRCm39) H266R probably benign Het
Pak5 T A 2: 135,958,557 (GRCm39) H177L probably benign Het
Pard3 C T 8: 127,791,097 (GRCm39) probably null Het
Pde4c A G 8: 71,200,007 (GRCm39) probably null Het
Pde6h T A 6: 136,940,203 (GRCm39) I63N probably damaging Het
Phldb2 T C 16: 45,594,558 (GRCm39) K916E possibly damaging Het
Ppig T C 2: 69,571,988 (GRCm39) S236P unknown Het
Ptprd T C 4: 75,872,359 (GRCm39) Y1370C probably damaging Het
Pzp T C 6: 128,493,083 (GRCm39) T352A probably benign Het
Rab3gap1 A G 1: 127,831,456 (GRCm39) Y177C possibly damaging Het
Rasgef1a G A 6: 118,066,157 (GRCm39) V457M probably benign Het
Scel A T 14: 103,848,226 (GRCm39) T616S possibly damaging Het
Sel1l A T 12: 91,793,324 (GRCm39) Y228* probably null Het
Sgms1 A G 19: 32,137,083 (GRCm39) V161A possibly damaging Het
Slfnl1 T C 4: 120,390,424 (GRCm39) L25P probably benign Het
Smad5 A G 13: 56,885,187 (GRCm39) T432A probably damaging Het
Sohlh2 T C 3: 55,099,762 (GRCm39) probably null Het
Sphkap A T 1: 83,254,383 (GRCm39) M835K probably damaging Het
Sqor A C 2: 122,640,018 (GRCm39) T174P probably damaging Het
Stkld1 T C 2: 26,842,759 (GRCm39) V577A probably damaging Het
Sulf2 T A 2: 165,922,773 (GRCm39) E652D probably benign Het
Sycp2 T A 2: 178,019,848 (GRCm39) Q556L probably benign Het
Syk A G 13: 52,765,274 (GRCm39) T134A probably benign Het
Tas2r122 T A 6: 132,688,585 (GRCm39) I103F possibly damaging Het
Tex10 A G 4: 48,451,940 (GRCm39) W729R probably damaging Het
Tex261 G T 6: 83,750,713 (GRCm39) P95T probably damaging Het
Tm2d2 T C 8: 25,507,523 (GRCm39) S47P probably benign Het
Tmem95 A G 11: 69,767,817 (GRCm39) S128P probably damaging Het
Tnxb G A 17: 34,911,553 (GRCm39) A1619T possibly damaging Het
Trappc9 A G 15: 72,929,885 (GRCm39) I157T probably damaging Het
Unc13c T A 9: 73,390,897 (GRCm39) probably null Het
Upb1 A T 10: 75,265,803 (GRCm39) Y210F probably damaging Het
Urb1 T C 16: 90,559,232 (GRCm39) M1684V probably benign Het
Wnk2 G A 13: 49,232,158 (GRCm39) P727S possibly damaging Het
Zfp1004 T A 2: 150,034,867 (GRCm39) M396K probably benign Het
Zfp551 A T 7: 12,150,276 (GRCm39) S378T probably damaging Het
Zfp598 T C 17: 24,888,898 (GRCm39) V56A possibly damaging Het
Zfp945 C T 17: 23,076,223 (GRCm39) probably null Het
Other mutations in BC051019
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:BC051019 APN 7 109,319,883 (GRCm39) missense probably benign 0.07
IGL02687:BC051019 APN 7 109,315,559 (GRCm39) missense possibly damaging 0.90
IGL02970:BC051019 APN 7 109,315,262 (GRCm39) missense probably benign 0.03
R0494:BC051019 UTSW 7 109,317,182 (GRCm39) missense probably benign 0.29
R0755:BC051019 UTSW 7 109,315,302 (GRCm39) nonsense probably null
R1619:BC051019 UTSW 7 109,317,269 (GRCm39) missense probably damaging 1.00
R1768:BC051019 UTSW 7 109,322,381 (GRCm39) missense probably benign 0.04
R4059:BC051019 UTSW 7 109,317,202 (GRCm39) nonsense probably null
R4790:BC051019 UTSW 7 109,315,553 (GRCm39) missense probably benign 0.01
R5091:BC051019 UTSW 7 109,319,789 (GRCm39) missense probably null 1.00
R7129:BC051019 UTSW 7 109,319,825 (GRCm39) missense
R7507:BC051019 UTSW 7 109,315,475 (GRCm39) missense possibly damaging 0.88
R7743:BC051019 UTSW 7 109,315,266 (GRCm39) missense probably damaging 0.98
R8929:BC051019 UTSW 7 109,315,233 (GRCm39) missense probably damaging 0.97
R8931:BC051019 UTSW 7 109,315,286 (GRCm39) missense probably damaging 1.00
R9497:BC051019 UTSW 7 109,315,466 (GRCm39) missense probably damaging 1.00
Z1177:BC051019 UTSW 7 109,319,847 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGATCTTCCTGAACAACAAATGTA -3'
(R):5'- GTTTTGTGCTCGCCCCTGAT -3'

Sequencing Primer
(F):5'- TGGCAGGAAACAGACTCTTCCTTG -3'
(R):5'- ATCTCACTTGCCTTTCCCAGGTG -3'
Posted On 2014-08-25