Incidental Mutation 'R1421:Fam196a'
ID159815
Institutional Source Beutler Lab
Gene Symbol Fam196a
Ensembl Gene ENSMUSG00000073805
Gene Namefamily with sequence similarity 196, member A
Synonyms
MMRRC Submission 039477-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1421 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location134881926-134938430 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 134899231 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084488] [ENSMUST00000171394]
Predicted Effect probably benign
Transcript: ENSMUST00000084488
SMART Domains Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325

DomainStartEndE-ValueType
SH3 12 69 7.57e-17 SMART
Pfam:DOCK_N 72 416 1.7e-113 PFAM
Pfam:DOCK-C2 421 618 1.2e-61 PFAM
low complexity region 628 639 N/A INTRINSIC
Pfam:DHR-2 1111 1610 3.3e-102 PFAM
low complexity region 1639 1664 N/A INTRINSIC
low complexity region 1683 1701 N/A INTRINSIC
low complexity region 1756 1773 N/A INTRINSIC
low complexity region 1823 1857 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171394
SMART Domains Protein: ENSMUSP00000129222
Gene: ENSMUSG00000073805

DomainStartEndE-ValueType
Pfam:FAM196 1 470 4.7e-205 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210617
Meta Mutation Damage Score 0.0996 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.7%
Validation Efficiency 96% (54/56)
MGI Phenotype Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate.,NO_PHENOTYPE
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik A G 10: 116,113,438 V61A probably damaging Het
A2ml1 T C 6: 128,543,960 T1344A probably benign Het
Abcf1 G A 17: 35,960,909 A375V probably damaging Het
Adam20 T A 8: 40,796,747 H631Q possibly damaging Het
Adcy10 T C 1: 165,563,947 S1258P probably damaging Het
Agtpbp1 A G 13: 59,495,575 I717T possibly damaging Het
Ahnak T A 19: 9,015,631 F4760I possibly damaging Het
Ano6 A G 15: 95,913,385 K122R probably benign Het
Arhgap5 T C 12: 52,516,848 C201R probably damaging Het
Atg16l1 T C 1: 87,786,358 probably benign Het
Cdhr3 A T 12: 33,060,292 I331K probably damaging Het
Coq8a A G 1: 180,170,441 probably benign Het
Crebbp A G 16: 4,124,647 V662A probably damaging Het
Cspg4 T A 9: 56,896,626 M1667K probably benign Het
Dnah7a A G 1: 53,540,873 probably benign Het
Dnajc6 A T 4: 101,611,316 Y251F probably damaging Het
Dpy19l4 A T 4: 11,304,011 M133K probably benign Het
Emb T C 13: 117,272,088 Y322H probably benign Het
Gcm1 A T 9: 78,059,700 H67L probably damaging Het
Gls2 A T 10: 128,201,348 K253* probably null Het
Gm28042 T A 2: 120,036,463 S196T probably benign Het
Gm43302 T C 5: 105,217,349 T598A probably benign Het
Gramd1a T A 7: 31,142,866 Q90L probably damaging Het
Grhl2 A G 15: 37,309,716 Y352C probably damaging Het
Ifi203-ps T C 1: 173,797,997 noncoding transcript Het
Ifitm2 T C 7: 140,955,059 I121V probably benign Het
Kptn T G 7: 16,123,024 probably benign Het
L2hgdh C T 12: 69,701,318 D345N probably benign Het
Lgals12 T C 19: 7,606,714 H6R probably benign Het
Lrrc4b A G 7: 44,461,051 I116V probably benign Het
Misp A G 10: 79,826,847 D366G probably damaging Het
Nav1 T C 1: 135,585,010 E104G probably damaging Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Parp1 T C 1: 180,600,088 probably benign Het
Pikfyve G A 1: 65,271,311 G1919D probably damaging Het
Pomt1 A G 2: 32,236,753 probably benign Het
Prrc2b C T 2: 32,200,978 S454F possibly damaging Het
Selenbp1 T C 3: 94,943,872 S360P probably benign Het
Slc6a12 T A 6: 121,359,126 I352N probably damaging Het
Snx9 G A 17: 5,902,484 G197D probably benign Het
Ston1 T C 17: 88,635,793 V209A probably benign Het
Tex36 A T 7: 133,595,349 probably null Het
Tnnt3 A G 7: 142,511,366 E108G probably damaging Het
Vmn2r98 T A 17: 19,065,178 F87I probably damaging Het
Vwa8 C T 14: 78,908,230 R116C probably damaging Het
Wdr64 T C 1: 175,767,150 I479T possibly damaging Het
Xrcc5 A G 1: 72,310,477 N22D probably benign Het
Zfp407 C T 18: 84,559,773 A1072T probably benign Het
Zfp735 C A 11: 73,710,697 L156I probably benign Het
Zfp820 A T 17: 21,819,880 Y156N possibly damaging Het
Other mutations in Fam196a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01504:Fam196a APN 7 134917940 missense probably benign 0.15
IGL02380:Fam196a APN 7 134899144 critical splice donor site probably null
R0557:Fam196a UTSW 7 134918705 missense probably damaging 1.00
R1691:Fam196a UTSW 7 134918286 missense probably damaging 1.00
R1726:Fam196a UTSW 7 134899138 splice site probably benign
R2045:Fam196a UTSW 7 134918430 missense probably damaging 1.00
R2259:Fam196a UTSW 7 134917667 missense probably damaging 1.00
R3078:Fam196a UTSW 7 134918021 missense probably benign 0.15
R3851:Fam196a UTSW 7 134884526 missense probably benign 0.23
R4619:Fam196a UTSW 7 134918541 missense probably damaging 1.00
R4663:Fam196a UTSW 7 134899148 nonsense probably null
R5024:Fam196a UTSW 7 134918478 missense probably damaging 1.00
R5067:Fam196a UTSW 7 134918555 missense probably benign 0.01
R5195:Fam196a UTSW 7 134884416 missense probably damaging 1.00
R5708:Fam196a UTSW 7 134918796 missense probably damaging 1.00
R6195:Fam196a UTSW 7 134918648 missense probably damaging 1.00
R7151:Fam196a UTSW 7 134918645 missense not run
Predicted Primers PCR Primer
(F):5'- TTTGGTCTGATGGAATCTTCCCAGC -3'
(R):5'- ACTCCCCGTGCTTATAACGCAATC -3'

Sequencing Primer
(F):5'- ATGGAATCTTCCCAGCATGGC -3'
(R):5'- CAGTGACATCTTGGCTGTAGAC -3'
Posted On2014-03-14