Mutagenetix > Incidental Mutation

Incidental Mutation 'R7719:Fam227a'

595141

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 #

R7719 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79620712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 510 (N510S)

Ref Sequence

ENSEMBL: ENSMUSP00000139524 (fasta)

Gene Model

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

AlphaFold

Q9D3V8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109646
AA Change: N154S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564
AA Change: N154S

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

possibly damaging
Transcript: ENSMUST00000109648
AA Change: N510S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: N510S

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

possibly damaging
Transcript: ENSMUST00000187519
AA Change: N510S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: N510S

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

possibly damaging
Transcript: ENSMUST00000229064
AA Change: N506S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,327,355	I633T	probably benign	Het
Acbd6	T	A	1: 155,687,012	L253H	probably damaging	Het
Adam11	T	C	11: 102,772,477	V238A	probably benign	Het
Amer3	A	T	1: 34,589,002	H774L	possibly damaging	Het
Anapc15	T	C	7: 101,901,029	L150P	unknown	Het
Ano8	G	T	8: 71,483,140	T278K	possibly damaging	Het
Atg16l2	T	C	7: 101,289,867	K618E	probably damaging	Het
Casz1	C	T	4: 148,944,524	S1142L	probably damaging	Het
Ccdc30	T	A	4: 119,333,616	E471D	probably damaging	Het
Cks1b	T	C	3: 89,416,328	N45D	probably benign	Het
Clasrp	T	C	7: 19,587,844	T296A	probably damaging	Het
Cluap1	C	T	16: 3,909,603		probably null	Het
Cntn5	T	A	9: 9,704,898	D632V	probably damaging	Het
Cntnap3	G	A	13: 64,772,777	Q593*	probably null	Het
Col18a1	A	T	10: 77,078,012	I457K	probably benign	Het
Crybb3	G	T	5: 113,075,968	Q192K	probably damaging	Het
Cyb561d2	C	T	9: 107,540,184	A123T	probably benign	Het
Cyp2b13	C	T	7: 26,095,670	A442V	probably damaging	Het
Cyp2j9	G	A	4: 96,568,842	T464I	probably benign	Het
Cyp4a29	G	A	4: 115,250,940	G320R	possibly damaging	Het
Dbp	T	C	7: 45,709,750	I283T	probably damaging	Het
Efcab3	T	C	11: 105,111,848	I303T	probably benign	Het
Efcab8	T	A	2: 153,787,745	V166D		Het
Efhc1	A	T	1: 20,979,520	I535F	probably benign	Het
Epb41l3	A	G	17: 69,253,414	I319V	possibly damaging	Het
Ewsr1	T	C	11: 5,085,900	T193A	unknown	Het
Frmpd1	T	C	4: 45,284,841	C1221R	possibly damaging	Het
Gm6741	A	C	17: 91,237,044	E78D	probably benign	Het
Gpam	C	T	19: 55,081,670	V385I	probably damaging	Het
Gpr55	A	G	1: 85,941,337	V174A	probably benign	Het
Gsdmc	T	C	15: 63,778,964		probably null	Het
Hmcn1	T	A	1: 150,565,329	D5509V	possibly damaging	Het
Hoxc13	A	T	15: 102,921,858	Q224L	possibly damaging	Het
Hunk	A	G	16: 90,496,666	D612G	probably benign	Het
Igsf3	G	A	3: 101,435,541	R478H	probably damaging	Het
Itgb5	A	G	16: 33,920,116	Q532R	probably benign	Het
Jph1	T	C	1: 17,091,991	Y149C	probably damaging	Het
Lztfl1	T	C	9: 123,715,330	D33G	probably null	Het
Mex3c	G	T	18: 73,589,990	A385S	possibly damaging	Het
Myo5a	T	A	9: 75,144,084	S320T	probably benign	Het
Nsun4	A	T	4: 116,052,420	N314K	possibly damaging	Het
Olfr1271	A	T	2: 90,266,259	M57K	probably damaging	Het
Omg	T	A	11: 79,502,233	E266D	probably benign	Het
Paqr9	T	A	9: 95,560,776	V273E	possibly damaging	Het
Phkg1	G	A	5: 129,873,858		probably benign	Het
Plekhm3	T	C	1: 64,921,742	K452E	probably benign	Het
Plpbp	T	A	8: 27,045,946	I86N		Het
Prl2c1	G	T	13: 27,851,797	A51S	probably damaging	Het
Prmt8	A	T	6: 127,729,503	H108Q	probably damaging	Het
Prrc2b	T	A	2: 32,217,268	C1614*	probably null	Het
Ptpdc1	A	G	13: 48,586,290	V555A	probably benign	Het
Rassf9	A	G	10: 102,545,600	D281G	probably benign	Het
Rmnd1	T	C	10: 4,427,496	D61G	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Ryr2	A	G	13: 11,730,343	S2055P	possibly damaging	Het
Six5	G	A	7: 19,096,878	A477T	probably damaging	Het
Speg	A	G	1: 75,375,825	E129G	probably damaging	Het
Stard10	C	T	7: 101,346,113	A78V	not run	Het
Stard3	T	C	11: 98,375,676	V127A	probably benign	Het
Svep1	G	A	4: 58,068,523	P3088S	probably damaging	Het
Tbck	A	G	3: 132,734,728	D508G	probably damaging	Het
Tgm2	T	A	2: 158,143,118	T23S	probably damaging	Het
Ttll10	G	T	4: 156,047,208		probably null	Het
Vcan	A	T	13: 89,704,619	S741T	probably damaging	Het
Vmn2r13	T	C	5: 109,171,752	N454S	probably benign	Het
Vmn2r45	T	A	7: 8,483,461	E276V	probably damaging	Het
Wnt8a	T	C	18: 34,547,535	W318R	probably damaging	Het
Zer1	A	T	2: 30,111,231	L87H	probably damaging	Het
Zfp518a	T	A	19: 40,912,768	N380K	probably benign	Het
Zfp90	T	C	8: 106,419,093	V19A	probably damaging	Het
Zkscan5	A	C	5: 145,220,866	H726P	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
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
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'- TCGATGTTGATATCCAAGGGG -3'
(R):5'- GGACCTTTCCTTGACAGCAGAG -3'

Sequencing Primer
(F):5'- AACTAGCTTTGTAGACCATGCTGG -3'
(R):5'- AGAGTGCACTGACTCTGCCATG -3'

Posted On

2019-11-12