Mutagenetix > Incidental Mutation

Incidental Mutation 'R5369:Fam227a'

429573

Institutional Source

Beutler Lab

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

MMRRC Submission

042946-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5369 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79615436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 573 (S573T)

Ref Sequence

ENSEMBL: ENSMUSP00000155261 (fasta)

Gene Model

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

AlphaFold

Q9D3V8

Predicted Effect

probably benign
Transcript: ENSMUST00000109646
AA Change: S221T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564
AA Change: S221T

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: S577T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: S577T

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: S577T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: S577T

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: S573T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	T	A	6: 41,033,006	R131S	probably benign	Het
A2ml1	T	C	6: 128,568,833	T444A	probably damaging	Het
A330070K13Rik	G	A	5: 130,379,091		probably benign	Het
Abcb8	C	T	5: 24,400,139	R108C	possibly damaging	Het
Acbd5	T	A	2: 23,112,510	L508Q	probably damaging	Het
Asb15	T	C	6: 24,562,564	V175A	probably benign	Het
B3galnt2	T	C	13: 13,994,425		probably null	Het
BC024139	A	C	15: 76,120,222	S711R	probably benign	Het
Bod1l	A	G	5: 41,827,183	I508T	probably damaging	Het
Btnl6	T	A	17: 34,507,985	R524*	probably null	Het
C3	C	A	17: 57,221,159	D687Y	probably benign	Het
Ccbe1	G	A	18: 66,061,414	A367V	probably benign	Het
Ccr1	A	T	9: 123,964,289	M68K	probably damaging	Het
Cd27	T	A	6: 125,234,364		probably benign	Het
Celf2	C	A	2: 7,081,081		probably benign	Het
Cfap54	T	C	10: 93,061,257		probably benign	Het
Cfap97	A	G	8: 46,169,650	K26E	probably damaging	Het
Clcn4	T	A	7: 7,296,033	I48F	probably benign	Het
Cnot7	A	T	8: 40,494,020	N238K	probably benign	Het
Colec12	A	G	18: 9,866,750	I654V	unknown	Het
Dip2a	A	G	10: 76,292,360	I22T	probably damaging	Het
Eif4g3	C	T	4: 138,183,334	T1375M	possibly damaging	Het
Eml5	C	T	12: 98,858,783	G725D	probably damaging	Het
F12	T	C	13: 55,418,491	E496G	probably benign	Het
Fnip1	T	C	11: 54,502,589	V593A	probably benign	Het
Focad	T	A	4: 88,121,373		probably benign	Het
Frem1	A	G	4: 83,001,739	I460T	possibly damaging	Het
Galnt10	T	G	11: 57,765,747		probably null	Het
Gm5592	A	T	7: 41,218,211		probably benign	Het
Gm6185	A	T	1: 161,209,760		noncoding transcript	Het
Gm7935	A	T	15: 74,081,114		noncoding transcript	Het
Grb14	C	T	2: 64,917,309	V369I	probably benign	Het
Gstm5	G	A	3: 107,898,466	A198T	probably damaging	Het
Herc2	T	A	7: 56,182,700	V3048D	probably damaging	Het
Htra4	T	G	8: 25,033,569	I327L	possibly damaging	Het
Ifi209	T	C	1: 173,637,307	M1T	probably null	Het
Ints6	T	C	14: 62,743,935	T135A	probably damaging	Het
Itpr1	T	A	6: 108,519,424	I2604N	probably damaging	Het
Krt6a	T	A	15: 101,692,558	M268L	probably benign	Het
Lrp1b	G	T	2: 41,004,613	S2201*	probably null	Het
Lrp2	T	C	2: 69,459,560	N3645S	probably benign	Het
Lrrc15	A	T	16: 30,272,904	I539N	possibly damaging	Het
Map3k6	T	C	4: 133,247,681	I675T	probably damaging	Het
Map3k9	T	A	12: 81,722,052	E1074V	probably damaging	Het
Med13l	T	A	5: 118,724,010	S339R	probably benign	Het
Mrps18a	T	C	17: 46,125,626		probably benign	Het
Nat8f2	G	T	6: 85,867,872	Y169*	probably null	Het
Nlrp1b	A	G	11: 71,181,799	I406T	probably benign	Het
Npc1l1	A	G	11: 6,217,705		probably null	Het
Olfr202	A	T	16: 59,284,380	M39K	probably damaging	Het
Olfr419	A	G	1: 174,250,441	V162A	probably damaging	Het
Ostf1	C	T	19: 18,581,325	G198E	probably benign	Het
Pcsk5	A	G	19: 17,581,255	V596A	probably damaging	Het
Pde4c	T	C	8: 70,750,105	*647Q	probably null	Het
Pkm	A	T	9: 59,670,634	I245F	probably damaging	Het
Ptprj	T	C	2: 90,469,641	H179R	probably benign	Het
Rapgef2	A	T	3: 79,069,432	S1356T	probably benign	Het
Rbm45	T	A	2: 76,370,250	L41Q	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Scel	A	T	14: 103,586,493	I386F	probably benign	Het
Serpinb5	A	T	1: 106,881,757	N298Y	possibly damaging	Het
Sirt3	A	T	7: 140,869,493	L180Q	probably damaging	Het
Slc24a2	C	T	4: 86,991,388	V698I	probably damaging	Het
Slc43a3	A	T	2: 84,957,723	H483L	probably damaging	Het
Snrnp35	A	G	5: 124,490,199	D25G	probably benign	Het
Snrnp40	T	C	4: 130,362,646	S55P	probably damaging	Het
Snx9	T	A	17: 5,920,580	C399S	probably damaging	Het
Soga1	T	C	2: 157,040,734	E466G	probably damaging	Het
Ttbk2	T	C	2: 120,825,262		probably benign	Het
Vmn1r1	A	G	1: 182,157,776	V108A	possibly damaging	Het
Vmn1r201	T	A	13: 22,475,502	N295K	probably benign	Het
Zfp292	G	A	4: 34,807,491	P1851L	possibly damaging	Het
Zfp472	A	T	17: 32,977,743	D264V	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
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
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'- AAGCTCTTCCAGTCAGGTCTC -3'
(R):5'- GATTAATGAGCGGCATGGCC -3'

Sequencing Primer
(F):5'- GGTCTCTCCTGCAAACCCCAG -3'
(R):5'- ATGGCCTTGTGCTGACC -3'

Posted On

2016-09-06