Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02355:Fam227a'

289670

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02355

Quality Score

Status

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 79643938 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155521 (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

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 benign
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 benign
Transcript: ENSMUST00000229064

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230475

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,211,651		probably benign	Het
Adam3	C	A	8: 24,697,191	C428F	probably damaging	Het
Alas1	T	C	9: 106,236,639	Y469C	probably damaging	Het
Asxl1	C	T	2: 153,401,786	L1419F	probably benign	Het
Bcan	C	T	3: 87,994,142	D418N	possibly damaging	Het
Cdc42bpg	A	G	19: 6,310,809	D199G	possibly damaging	Het
Chst15	T	C	7: 132,266,672	N340D	probably benign	Het
Col12a1	T	G	9: 79,630,711		probably benign	Het
Cyp2c67	T	A	19: 39,643,405	H116L	probably benign	Het
Cyp2c67	G	A	19: 39,617,382	R357*	probably null	Het
Ears2	T	C	7: 122,044,550	D395G	probably benign	Het
Fap	A	G	2: 62,573,498	V11A	probably benign	Het
Ganc	A	G	2: 120,433,757	D397G	probably damaging	Het
Gjb6	C	A	14: 57,124,295	G170C	possibly damaging	Het
Gm13023	A	G	4: 143,793,010	S114G	probably damaging	Het
Gm8989	T	C	7: 106,330,273		noncoding transcript	Het
Gria2	A	T	3: 80,706,937	W599R	probably damaging	Het
Ighv1-64	A	G	12: 115,507,616	S94P	probably benign	Het
Kifc3	C	T	8: 95,109,879	A85T	probably damaging	Het
Lifr	G	A	15: 7,164,693		probably null	Het
Lonp2	T	G	8: 86,624,246	S21R	probably benign	Het
Nxpe3	A	G	16: 55,890,586	V30A	probably benign	Het
Olfml1	T	C	7: 107,567,803	V13A	probably benign	Het
Olfr1490	T	C	19: 13,655,233	V268A	probably benign	Het
Olfr366	A	G	2: 37,219,669	Y60C	probably damaging	Het
Pcnt	G	A	10: 76,375,162	Q2376*	probably null	Het
Pglyrp2	A	G	17: 32,417,022	L380P	probably damaging	Het
Plin3	A	G	17: 56,286,636	V26A	probably benign	Het
Rims1	A	G	1: 22,483,207	I470T	probably damaging	Het
Rora	T	C	9: 69,374,092	Y329H	probably damaging	Het
Scnn1b	G	A	7: 121,917,547	R503H	probably damaging	Het
Sec14l1	A	G	11: 117,144,849	D237G	possibly damaging	Het
Selplg	A	G	5: 113,819,406	S280P	probably benign	Het
Serpina12	A	G	12: 104,037,881	L164P	probably benign	Het
Sik2	C	T	9: 50,917,603	W176*	probably null	Het
Slc2a1	T	C	4: 119,136,415	F483S	possibly damaging	Het
Speg	A	G	1: 75,423,915	D2573G	possibly damaging	Het
Stil	C	T	4: 115,010,111	S239L	probably damaging	Het
Tmem94	C	A	11: 115,794,745	S941R	probably damaging	Het
Tnfrsf11b	T	A	15: 54,252,382	D273V	probably damaging	Het
Tns2	A	G	15: 102,112,290	T864A	probably benign	Het
Zfpm2	A	G	15: 41,099,494	H184R	probably damaging	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
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
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

Posted On

2015-04-16