Incidental Mutation 'R5013:Fam149b'
ID 390665
Institutional Source Beutler Lab
Gene Symbol Fam149b
Ensembl Gene ENSMUSG00000039599
Gene Name family with sequence similarity 149, member B
Synonyms
MMRRC Submission 042604-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.333) question?
Stock # R5013 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 20398230-20433559 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20413439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 219 (H219Q)
Ref Sequence ENSEMBL: ENSMUSP00000153235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037698] [ENSMUST00000051915] [ENSMUST00000090499] [ENSMUST00000090503] [ENSMUST00000224721] [ENSMUST00000224930] [ENSMUST00000225942] [ENSMUST00000225991] [ENSMUST00000225834] [ENSMUST00000225597]
AlphaFold Q6NSV7
Predicted Effect probably benign
Transcript: ENSMUST00000037698
AA Change: H180Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000045247
Gene: ENSMUSG00000039599
AA Change: H180Q

DomainStartEndE-ValueType
Pfam:DUF3719 116 183 2.1e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000051915
AA Change: H219Q

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056907
Gene: ENSMUSG00000039599
AA Change: H219Q

DomainStartEndE-ValueType
Pfam:DUF3719 116 183 2.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090499
AA Change: H273Q

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000087985
Gene: ENSMUSG00000039599
AA Change: H273Q

DomainStartEndE-ValueType
Pfam:DUF3719 116 181 1.5e-28 PFAM
low complexity region 369 383 N/A INTRINSIC
low complexity region 404 415 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000090503
AA Change: H180Q

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000087989
Gene: ENSMUSG00000039599
AA Change: H180Q

DomainStartEndE-ValueType
Pfam:DUF3719 116 157 5.7e-14 PFAM
low complexity region 276 290 N/A INTRINSIC
low complexity region 311 322 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224670
Predicted Effect probably benign
Transcript: ENSMUST00000224721
AA Change: H273Q

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224930
AA Change: H219Q

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000225942
AA Change: H273Q

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000225991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225114
Predicted Effect probably benign
Transcript: ENSMUST00000225834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225363
Predicted Effect probably benign
Transcript: ENSMUST00000225597
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 100% (86/86)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,303,926 (GRCm39) L2117P probably damaging Het
Ago3 A T 4: 126,262,391 (GRCm39) S386R probably benign Het
Agxt T C 1: 93,069,779 (GRCm39) probably benign Het
Ahctf1 A T 1: 179,611,675 (GRCm39) I565N possibly damaging Het
Ank1 C T 8: 23,572,300 (GRCm39) T70I probably damaging Het
Anxa1 A G 19: 20,360,287 (GRCm39) V108A probably benign Het
Aqp3 A G 4: 41,093,819 (GRCm39) F225L probably damaging Het
Atp11b T G 3: 35,888,532 (GRCm39) I934R possibly damaging Het
Atp13a5 A T 16: 29,169,566 (GRCm39) L42Q probably damaging Het
Bcr A G 10: 74,960,898 (GRCm39) D443G probably benign Het
Cbfa2t3 G T 8: 123,365,598 (GRCm39) D211E possibly damaging Het
Ccdc146 A T 5: 21,538,036 (GRCm39) L96Q probably damaging Het
Cdh16 A G 8: 105,343,660 (GRCm39) I612T probably damaging Het
Clcn2 G A 16: 20,525,965 (GRCm39) P785S probably damaging Het
Dennd5a A G 7: 109,513,983 (GRCm39) I743T possibly damaging Het
Dnah12 T A 14: 26,431,326 (GRCm39) D381E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnajc2 G A 5: 21,962,771 (GRCm39) R521* probably null Het
Dst T C 1: 34,289,728 (GRCm39) V5776A probably damaging Het
Eddm13 G A 7: 6,269,332 (GRCm39) probably benign Het
Eif1ad19 T A 12: 87,740,512 (GRCm39) K16* probably null Het
Ercc4 G A 16: 12,941,445 (GRCm39) probably benign Het
Eya1 T A 1: 14,254,582 (GRCm39) N417Y probably damaging Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Fbxw17 C T 13: 50,586,506 (GRCm39) R403C probably benign Het
Fer1l4 T C 2: 155,873,135 (GRCm39) Y1315C probably damaging Het
Gatd1 G T 7: 140,988,861 (GRCm39) probably benign Het
Gm10330 A T 12: 23,829,961 (GRCm39) Y73* probably null Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
Gsn T A 2: 35,188,933 (GRCm39) Y440N probably damaging Het
Hdc C T 2: 126,446,220 (GRCm39) E180K probably benign Het
Ilk A G 7: 105,391,456 (GRCm39) D374G probably damaging Het
Invs G A 4: 48,421,807 (GRCm39) R813Q probably damaging Het
Itln1 T A 1: 171,360,958 (GRCm39) K45* probably null Het
Ivd A G 2: 118,710,946 (GRCm39) Y385C probably damaging Het
Klk1b4 A G 7: 43,860,492 (GRCm39) N170S probably benign Het
Klk1b9 A C 7: 43,445,419 (GRCm39) D203A probably damaging Het
Lamtor3 A T 3: 137,630,909 (GRCm39) R27S probably damaging Het
Lcn6 T A 2: 25,567,082 (GRCm39) probably null Het
Lrriq1 T C 10: 103,025,784 (GRCm39) D946G probably damaging Het
Morc1 A G 16: 48,322,699 (GRCm39) D332G probably benign Het
Myo15a T C 11: 60,382,493 (GRCm39) I1523T probably damaging Het
Nagpa A T 16: 5,013,743 (GRCm39) M365K probably benign Het
Nckap5l G T 15: 99,324,457 (GRCm39) P682Q probably benign Het
Nfix A G 8: 85,498,713 (GRCm39) F87L possibly damaging Het
Nup155 C A 15: 8,153,722 (GRCm39) T421K probably benign Het
Or5ac25 A T 16: 59,182,067 (GRCm39) N171K probably damaging Het
Or5ae2 T C 7: 84,505,646 (GRCm39) V23A probably damaging Het
Or7c74 A G 2: 37,160,937 (GRCm39) noncoding transcript Het
Or8k53 A T 2: 86,177,647 (GRCm39) F154L probably benign Het
Pate14 T C 9: 36,549,120 (GRCm39) N47D probably benign Het
Pds5a A C 5: 65,792,680 (GRCm39) V751G probably benign Het
Podnl1 G T 8: 84,852,965 (GRCm39) C45F probably damaging Het
Psme2b C T 11: 48,836,654 (GRCm39) E98K probably benign Het
Ptprk T A 10: 28,427,713 (GRCm39) I764N probably damaging Het
Rbm33 A T 5: 28,547,409 (GRCm39) Q193L probably benign Het
Rnasel C A 1: 153,629,677 (GRCm39) H64Q probably damaging Het
Ryr1 G A 7: 28,802,234 (GRCm39) probably null Het
Scamp3 A G 3: 89,088,216 (GRCm39) probably benign Het
Sema6b C T 17: 56,439,497 (GRCm39) probably null Het
Six4 A C 12: 73,150,400 (GRCm39) I715R probably benign Het
Slc28a2 T C 2: 122,288,371 (GRCm39) M554T possibly damaging Het
Snhg11 T C 2: 158,218,872 (GRCm39) probably benign Het
Spdya A T 17: 71,869,499 (GRCm39) Y98F possibly damaging Het
Tert T C 13: 73,794,428 (GRCm39) probably null Het
Tex22 G A 12: 113,052,104 (GRCm39) C54Y probably damaging Het
Tmem198b C T 10: 128,637,942 (GRCm39) R207H probably damaging Het
Trbv13-1 C T 6: 41,093,189 (GRCm39) Q42* probably null Het
Trcg1 T C 9: 57,149,562 (GRCm39) L378P probably damaging Het
Trpv5 T G 6: 41,636,647 (GRCm39) D433A probably damaging Het
Ube3b A G 5: 114,545,702 (GRCm39) N654D probably damaging Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Vwa7 A T 17: 35,241,709 (GRCm39) Y448F probably damaging Het
Zan A C 5: 137,382,099 (GRCm39) D5149E unknown Het
Zfp106 A G 2: 120,341,015 (GRCm39) W1832R probably damaging Het
Zfp189 G A 4: 49,530,438 (GRCm39) G514S probably damaging Het
Zhx1 G A 15: 57,917,538 (GRCm39) T236I possibly damaging Het
Other mutations in Fam149b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Fam149b APN 14 20,427,949 (GRCm39) missense possibly damaging 0.78
IGL02323:Fam149b APN 14 20,413,369 (GRCm39) missense possibly damaging 0.94
IGL02631:Fam149b APN 14 20,425,614 (GRCm39) missense probably damaging 0.97
IGL03208:Fam149b APN 14 20,401,370 (GRCm39) splice site probably benign
R0334:Fam149b UTSW 14 20,413,492 (GRCm39) missense probably damaging 0.97
R2511:Fam149b UTSW 14 20,428,524 (GRCm39) missense probably damaging 1.00
R2566:Fam149b UTSW 14 20,425,578 (GRCm39) missense probably damaging 0.97
R4659:Fam149b UTSW 14 20,417,941 (GRCm39) missense probably benign 0.16
R5011:Fam149b UTSW 14 20,413,439 (GRCm39) missense possibly damaging 0.92
R5583:Fam149b UTSW 14 20,413,368 (GRCm39) missense possibly damaging 0.66
R5791:Fam149b UTSW 14 20,401,394 (GRCm39) missense probably damaging 0.96
R5905:Fam149b UTSW 14 20,409,978 (GRCm39) missense probably benign 0.30
R6035:Fam149b UTSW 14 20,427,985 (GRCm39) missense probably damaging 1.00
R6035:Fam149b UTSW 14 20,427,985 (GRCm39) missense probably damaging 1.00
R7180:Fam149b UTSW 14 20,431,853 (GRCm39) missense probably benign 0.01
R7210:Fam149b UTSW 14 20,428,540 (GRCm39) missense probably damaging 0.99
R7976:Fam149b UTSW 14 20,427,852 (GRCm39) missense probably damaging 0.98
R8529:Fam149b UTSW 14 20,408,370 (GRCm39) splice site probably null
R8971:Fam149b UTSW 14 20,402,777 (GRCm39) missense probably benign 0.30
R9743:Fam149b UTSW 14 20,413,411 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- AAGCACATTTCCGAGTGTCAC -3'
(R):5'- AGCATTTAAGCCCTGACGTC -3'

Sequencing Primer
(F):5'- ACGGACAGTGGTGGTGC -3'
(R):5'- TTTGCCTAGTACACACAGGG -3'
Posted On 2016-06-06