Mutagenetix > Incidental Mutation

Incidental Mutation 'R6532:Fam227a'

522448

Institutional Source

Beutler Lab

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R6532 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79636720 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 301 (R301Q)

Ref Sequence

ENSEMBL: ENSMUSP00000155261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109646] [ENSMUST00000109648] [ENSMUST00000187519] [ENSMUST00000191401] [ENSMUST00000229064] [ENSMUST00000230366]

AlphaFold

Q9D3V8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000046816

SMART Domains

Protein: ENSMUSP00000048277
Gene: ENSMUSG00000042564

Domain	Start	End	E-Value	Type
Pfam:FWWh	128	242	6.3e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109646

SMART Domains

Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564

Domain	Start	End	E-Value	Type
low complexity region	156	175	N/A	INTRINSIC
low complexity region	204	211	N/A	INTRINSIC
low complexity region	243	253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109648
AA Change: R305Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: R305Q

Domain	Start	End	E-Value	Type
Pfam:FWWh	134	295	1.4e-51	PFAM
low complexity region	512	531	N/A	INTRINSIC
low complexity region	560	567	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187519
AA Change: R305Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: R305Q

Domain	Start	End	E-Value	Type
Pfam:FWWh	132	295	1e-47	PFAM
low complexity region	512	531	N/A	INTRINSIC
low complexity region	560	567	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191401

Predicted Effect

probably benign
Transcript: ENSMUST00000229064
AA Change: R301Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230475

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,977,379	L1418P	probably damaging	Het
Adal	A	G	2: 121,146,123		probably null	Het
Akap2	T	C	4: 57,855,174	F168L	probably benign	Het
Atr	T	A	9: 95,908,408	N1600K	probably benign	Het
Cubn	T	C	2: 13,459,002	T631A	probably benign	Het
Dpp9	C	T	17: 56,205,854	G118D	possibly damaging	Het
Ear1	C	T	14: 43,819,252	R53H	probably benign	Het
Exoc1	T	C	5: 76,537,837	V132A	probably damaging	Het
Garnl3	A	T	2: 33,031,119	M298K	possibly damaging	Het
Glb1l3	T	C	9: 26,818,442	D619G	probably benign	Het
Haspin	A	T	11: 73,137,551	C237*	probably null	Het
Hook1	T	G	4: 96,019,756		probably null	Het
Hoxa7	A	G	6: 52,217,315	F31L	probably benign	Het
Hoxb7	C	A	11: 96,286,888	S54*	probably null	Het
Idh3b	AG	AGCACCACAACTG	2: 130,279,673		probably null	Het
Ifi207	A	G	1: 173,729,645	V516A	possibly damaging	Het
Inca1	T	C	11: 70,695,907	M1V	probably null	Het
Kcnt2	A	G	1: 140,584,106	T933A	probably damaging	Het
Lama4	G	A	10: 39,048,077	D494N	possibly damaging	Het
Lrp1	A	C	10: 127,541,682	H4133Q	probably damaging	Het
Lrp1	A	G	10: 127,549,407	F3542L	probably damaging	Het
Myo1f	A	G	17: 33,575,846	D20G	probably damaging	Het
Nlk	G	T	11: 78,696,055	A71E	probably damaging	Het
Nvl	G	A	1: 181,144,143		probably null	Het
Olfr1154	A	T	2: 87,903,202	I158N	probably damaging	Het
Pcnx	C	A	12: 81,980,964	H1601N	probably damaging	Het
Pnkp	T	A	7: 44,857,405	M1K	probably null	Het
Skiv2l	G	A	17: 34,844,743	R575C	probably damaging	Het
Slc25a54	A	G	3: 109,112,052	Y324C	probably damaging	Het
Tdrd3	A	G	14: 87,505,816	E400G	probably damaging	Het
Unc5b	A	G	10: 60,778,828	I230T	possibly damaging	Het
Wfdc2	A	G	2: 164,563,376	T50A	probably benign	Het
Zfp563	A	G	17: 33,105,698	I422M	probably benign	Het

Other mutations in Fam227a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01650:Fam227a	APN	15	79634073	missense	possibly damaging	0.66
IGL01807:Fam227a	APN	15	79649655	missense	probably benign	0.03
IGL01936:Fam227a	APN	15	79612546	missense	possibly damaging	0.90
IGL02355:Fam227a	APN	15	79643938	intron	probably benign
IGL02362:Fam227a	APN	15	79643938	intron	probably benign
IGL02569:Fam227a	APN	15	79634122	missense	probably benign
IGL02713:Fam227a	APN	15	79636796	splice site	probably benign
IGL02734:Fam227a	APN	15	79617841	splice site	probably benign
IGL02816:Fam227a	APN	15	79626296	missense	possibly damaging	0.66
IGL03354:Fam227a	APN	15	79636750	missense	possibly damaging	0.91
R0105:Fam227a	UTSW	15	79620832	missense	possibly damaging	0.90
R0194:Fam227a	UTSW	15	79640669	nonsense	probably null
R0437:Fam227a	UTSW	15	79643988	missense	possibly damaging	0.90
R0786:Fam227a	UTSW	15	79626268	missense	probably benign	0.01
R0925:Fam227a	UTSW	15	79620805	missense	probably benign	0.04
R1200:Fam227a	UTSW	15	79612537	missense	possibly damaging	0.66
R1424:Fam227a	UTSW	15	79634108	missense	probably benign	0.34
R1474:Fam227a	UTSW	15	79615381	missense	probably damaging	0.97
R1495:Fam227a	UTSW	15	79626245	missense	probably benign	0.00
R1561:Fam227a	UTSW	15	79636762	missense	possibly damaging	0.95
R1661:Fam227a	UTSW	15	79620677	splice site	probably null
R1669:Fam227a	UTSW	15	79620677	splice site	probably null
R1967:Fam227a	UTSW	15	79637134	missense	possibly damaging	0.93
R1976:Fam227a	UTSW	15	79626276	missense	possibly damaging	0.83
R2197:Fam227a	UTSW	15	79623467	missense	probably damaging	0.97
R2230:Fam227a	UTSW	15	79615381	missense	possibly damaging	0.66
R2231:Fam227a	UTSW	15	79615381	missense	possibly damaging	0.66
R2232:Fam227a	UTSW	15	79615381	missense	possibly damaging	0.66
R2910:Fam227a	UTSW	15	79636734	missense	possibly damaging	0.81
R3027:Fam227a	UTSW	15	79648733	splice site	probably null
R3943:Fam227a	UTSW	15	79620859	splice site	probably benign
R4811:Fam227a	UTSW	15	79615427	missense	possibly damaging	0.66
R4845:Fam227a	UTSW	15	79649711	missense	probably damaging	0.99
R4896:Fam227a	UTSW	15	79637054	missense	probably benign	0.32
R4934:Fam227a	UTSW	15	79637061	missense	possibly damaging	0.71
R4941:Fam227a	UTSW	15	79640003	critical splice donor site	probably null
R5225:Fam227a	UTSW	15	79636735	missense	possibly damaging	0.90
R5369:Fam227a	UTSW	15	79615436	missense	probably benign	0.27
R5593:Fam227a	UTSW	15	79640058	utr 3 prime	probably benign
R6311:Fam227a	UTSW	15	79640694	missense	probably benign	0.23
R6362:Fam227a	UTSW	15	79643350	missense	possibly damaging	0.53
R7239:Fam227a	UTSW	15	79634062	critical splice donor site	probably null
R7619:Fam227a	UTSW	15	79617766	missense	probably benign
R7719:Fam227a	UTSW	15	79620712	missense	possibly damaging	0.53
R8006:Fam227a	UTSW	15	79634098	missense	possibly damaging	0.61
R8048:Fam227a	UTSW	15	79649758	start codon destroyed	probably null
R8175:Fam227a	UTSW	15	79640660	missense	probably damaging	0.97
R8439:Fam227a	UTSW	15	79630070	missense	possibly damaging	0.53
R9014:Fam227a	UTSW	15	79620757	missense	possibly damaging	0.96
R9034:Fam227a	UTSW	15	79648751	missense	probably benign	0.00
R9582:Fam227a	UTSW	15	79617777	missense	probably benign	0.33
R9613:Fam227a	UTSW	15	79634083	missense	probably benign	0.09
R9668:Fam227a	UTSW	15	79642243	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- GTGGCCAGTTTGAAAGTCTGAG -3'
(R):5'- CAGGTGAACAAACCCTCTAGAG -3'

Sequencing Primer
(F):5'- CTGAGAGATAATCTGGTGGAGACATC -3'
(R):5'- GCAGATCTCAGGTTCCCATTAAG -3'

Posted On

2018-06-06