Mutagenetix > Incidental Mutation

Incidental Mutation 'R3027:Fam227a'

265863

Institutional Source

Beutler Lab

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

MMRRC Submission

040543-MU

Accession Numbers

Essential gene?

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

Stock #

R3027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 79648733 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109646] [ENSMUST00000109646] [ENSMUST00000109648] [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 null
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 null
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 null
Transcript: ENSMUST00000109648

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564

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 null
Transcript: ENSMUST00000109648

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564

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 null
Transcript: ENSMUST00000187519

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564

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 null
Transcript: ENSMUST00000229064

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231126

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,329,035	L1193P	probably benign	Het
Arap2	T	C	5: 62,669,897	T993A	probably damaging	Het
Arhgap18	G	A	10: 26,846,096	G21D	probably benign	Het
Cluap1	T	A	16: 3,911,532	C84*	probably null	Het
Dnmt3a	T	A	12: 3,849,626		probably null	Het
Etaa1	T	C	11: 17,947,886	D146G	probably damaging	Het
Htt	T	A	5: 34,820,095	I775N	possibly damaging	Het
Itgax	C	A	7: 128,148,572	Y1053*	probably null	Het
Kif21a	T	A	15: 90,972,642	N583Y	probably damaging	Het
Lrp1b	T	A	2: 40,870,271	E2995V	probably benign	Het
Olfr1089	C	T	2: 86,733,586	V9M	possibly damaging	Het
Olfr190	C	T	16: 59,074,967	V38I	probably benign	Het
Olfr303	T	C	7: 86,394,553	N315S	probably benign	Het
Olfr51	G	A	11: 51,007,052	V27M	possibly damaging	Het
Otos	A	T	1: 92,644,354	H83Q	probably damaging	Het
Pramel7	A	G	2: 87,491,403	M96T	probably benign	Het
Ptprz1	T	A	6: 23,016,197	S1680T	possibly damaging	Het
Rad50	A	G	11: 53,695,381	S263P	probably benign	Het
Retreg2	A	G	1: 75,146,444	S339G	probably damaging	Het
Schip1	G	A	3: 68,494,610	A7T	probably damaging	Het
Shkbp1	A	C	7: 27,343,393	S540A	probably benign	Het
Slc15a4	A	G	5: 127,604,536		probably null	Het
Socs1	T	C	16: 10,784,714	D53G	possibly damaging	Het
Spag9	G	T	11: 94,086,377	R103L	probably null	Het
Spc24	AGAGGTAGTCACTGA	AGA	9: 21,756,215		probably null	Het
Spo11	T	C	2: 172,985,943	Y146H	probably damaging	Het
Tmem25	T	C	9: 44,798,214		probably null	Het
Ttyh1	A	G	7: 4,119,722	D23G	probably benign	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zfp513	A	G	5: 31,199,329	S540P	possibly damaging	Het
Zfp808	A	T	13: 62,171,590	H211L	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
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
R6532:Fam227a	UTSW	15	79636720	missense	probably benign	0.00
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'- GCTGCAAACCTAAATCTTCTCGTAAG -3'
(R):5'- AGATCCTGAGGCAAAGACCTG -3'

Sequencing Primer
(F):5'- TTCACAGGACCTGAGTTCAGTAC -3'
(R):5'- TCCTGAGGCAAAGACCTGAAAAAG -3'

Posted On

2015-02-05