Mutagenetix > Incidental Mutation

Incidental Mutation 'R1495:Fam227a'

168810

Institutional Source

Beutler Lab

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

MMRRC Submission

039546-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R1495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79626245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 403 (V403I)

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: V51I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564
AA Change: V51I

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: V407I

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

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: V407I

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: V407I

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

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: V407I

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: V403I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231122

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,477,820	N488S	probably benign	Het
A430105I19Rik	T	G	2: 118,760,532	K173N	probably damaging	Het
Acot10	G	A	15: 20,665,507	R383C	probably damaging	Het
Acsm2	A	G	7: 119,578,126	D263G	probably damaging	Het
Adcy2	G	T	13: 68,796,535	Q243K	probably benign	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Agt	A	G	8: 124,559,455	F296S	probably damaging	Het
Akap14	T	C	X: 37,163,965	D39G	possibly damaging	Het
Akt3	T	C	1: 177,103,042	M117V	probably benign	Het
Ankar	T	C	1: 72,643,291	T1154A	probably benign	Het
Arvcf	T	A	16: 18,389,386	L70Q	probably damaging	Het
Ccdc171	A	T	4: 83,681,095	K724*	probably null	Het
Ccdc91	A	G	6: 147,534,172	T85A	possibly damaging	Het
Cdh3	C	T	8: 106,538,997	T224I	probably damaging	Het
Clstn3	T	C	6: 124,449,917	I482V	probably benign	Het
Cnot9	A	G	1: 74,523,600	E176G	probably damaging	Het
Cntnap4	T	G	8: 112,881,763	L1272V	possibly damaging	Het
Cyb5a	T	A	18: 84,851,480	M1K	probably null	Het
Cyp2c23	A	G	19: 44,005,508	I473T	probably benign	Het
Dbil5	T	A	11: 76,218,450	M60K	probably benign	Het
Dgkg	A	T	16: 22,500,379	L644Q	probably damaging	Het
Disp3	T	C	4: 148,249,825	I1004V	probably benign	Het
Egf	T	A	3: 129,713,006	I599F	probably damaging	Het
Epc2	A	G	2: 49,536,663	T145A	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,357,677		probably benign	Het
Extl3	A	T	14: 65,075,867	V622E	probably benign	Het
Fat2	T	A	11: 55,262,673	D3571V	probably benign	Het
Fcho2	A	G	13: 98,749,850		probably null	Het
Fras1	A	G	5: 96,528,586	N64S	possibly damaging	Het
Gabbr1	A	G	17: 37,055,940	N352S	possibly damaging	Het
Gabra1	T	C	11: 42,154,944	N113S	probably damaging	Het
Glg1	T	C	8: 111,197,675	Y227C	probably damaging	Het
Gm14851	T	A	8: 21,095,201	Q75L	probably benign	Het
Gm5141	A	T	13: 62,774,270	C362S	probably damaging	Het
Gprc6a	T	A	10: 51,628,437	T104S	probably benign	Het
Jph1	A	C	1: 17,091,652	V262G	probably benign	Het
Kank1	C	G	19: 25,410,349	T434R	probably damaging	Het
Kmt2e	A	G	5: 23,499,327	S1173G	possibly damaging	Het
Krt75	G	A	15: 101,573,873		probably benign	Het
Lyzl1	G	T	18: 4,181,192	W77L	probably null	Het
Nipbl	T	G	15: 8,351,280	N676T	probably benign	Het
Obscn	C	T	11: 59,080,160	S2300N	probably damaging	Het
Olfr459	T	G	6: 41,771,903	Y132S	probably damaging	Het
Osbpl1a	T	A	18: 12,758,839	M350L	probably benign	Het
Pecam1	T	C	11: 106,688,856	D460G	probably damaging	Het
Pik3c2a	T	A	7: 116,388,065	K540N	probably benign	Het
Prdm12	T	A	2: 31,640,193	I32N	probably damaging	Het
Prkd1	T	C	12: 50,366,352	S679G	probably damaging	Het
Psen2	C	T	1: 180,228,854	A393T	probably damaging	Het
Ptprh	T	A	7: 4,580,889	T235S	probably benign	Het
Ranbp3	C	T	17: 56,705,527	P182L	probably benign	Het
Serpinb7	A	T	1: 107,451,660	K266*	probably null	Het
Sesn3	T	C	9: 14,308,521	S69P	probably damaging	Het
Slc12a6	T	C	2: 112,354,190	M818T	probably damaging	Het
Slc25a53	C	A	X: 137,015,335	C4F	unknown	Het
Snx1	T	A	9: 66,096,597	L255F	probably benign	Het
Sptbn2	T	G	19: 4,718,976	S46A	possibly damaging	Het
Taf4	A	G	2: 179,933,027	F595S	probably damaging	Het
Tec	A	T	5: 72,786,755	V103E	probably damaging	Het
Tmco5b	T	C	2: 113,290,791	S147P	possibly damaging	Het
Uchl5	C	T	1: 143,799,937	T93I	possibly damaging	Het
Usp14	A	T	18: 10,004,994	S225T	probably benign	Het
Usp45	C	A	4: 21,797,385	Q238K	possibly damaging	Het
Vmn1r6	T	A	6: 57,003,073	M218K	possibly damaging	Het
Zfp84	T	A	7: 29,777,303	Y473*	probably null	Het
Zyg11b	G	A	4: 108,266,213	P186S	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
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

Predicted Primers

PCR Primer
(F):5'- ACAATGAGtgccgcagaccc -3'
(R):5'- GAGACCCACTGTAAACTCTGTCTTTTCC -3'

Sequencing Primer
(F):5'- ctgctaactggaatcttggaac -3'
(R):5'- TCCCTGGGCAAATACTCATATTCAC -3'

Posted On

2014-04-13