Mutagenetix > Incidental Mutation

Incidental Mutation 'R6362:Fam227a'

512546

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 #

R6362 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79643350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 100 (P100Q)

Ref Sequence

ENSEMBL: ENSMUSP00000155261 (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
AA Change: P104Q

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: P104Q

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: P104Q

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: P104Q

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
AA Change: H77N

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229064
AA Change: P100Q

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000230366
AA Change: H77N

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230475

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

99% (78/79)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F07Rik	T	G	2: 173,528,174		probably null	Het
Aldh5a1	T	G	13: 24,918,550	D310A	probably benign	Het
Als2cl	T	A	9: 110,895,446		probably null	Het
Amacr	C	A	15: 10,984,805	R170S	probably damaging	Het
Brwd1	C	T	16: 96,002,307	R2221Q	probably damaging	Het
Cacna1g	A	T	11: 94,439,707		probably null	Het
Cd3d	G	A	9: 44,986,291	D157N	probably damaging	Het
Cep131	T	C	11: 120,064,690	D1043G	probably damaging	Het
Cit	A	G	5: 115,886,676	D326G	probably benign	Het
Col16a1	G	C	4: 130,066,190	G370R	unknown	Het
Col6a3	T	A	1: 90,810,563	Y1078F	probably damaging	Het
Colgalt2	A	C	1: 152,471,798	Y161S	probably damaging	Het
Cyp2j13	A	G	4: 96,071,695	Y75H	probably damaging	Het
Daxx	G	A	17: 33,911,364	V118I	probably damaging	Het
Dennd5a	G	T	7: 109,934,265	C75*	probably null	Het
Diaph3	A	G	14: 86,772,130	L1071P	probably damaging	Het
Disp3	A	G	4: 148,254,308	L802P	possibly damaging	Het
Dmc1	A	G	15: 79,588,823	V141A	probably benign	Het
Dsc2	A	T	18: 20,035,463	Y45*	probably null	Het
Dspp	A	G	5: 104,176,034	I348V	probably benign	Het
Epb42	C	A	2: 121,025,779	C428F	possibly damaging	Het
Fer1l4	C	T	2: 156,048,250	V252I	probably benign	Het
Fhod1	C	A	8: 105,331,641		probably null	Het
Fhod3	G	T	18: 24,754,255	A68S	probably benign	Het
Gatm	T	C	2: 122,598,196	D328G	probably benign	Het
Gm13103	A	G	4: 143,852,865	Y340C	probably damaging	Het
Gm6401	G	T	14: 41,967,770	H44N	probably benign	Het
Gm884	G	C	11: 103,620,652	N163K	unknown	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Gpr84	G	A	15: 103,308,510	A380V	probably damaging	Het
Herc1	G	T	9: 66,471,908	W3492L	probably damaging	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Jag2	T	A	12: 112,920,122	K246N	probably damaging	Het
Klhl32	T	C	4: 24,629,195	D524G	probably null	Het
Lax1	A	G	1: 133,680,596	S136P	possibly damaging	Het
Lefty1	A	G	1: 180,937,160	K217E	probably benign	Het
Lgr5	A	G	10: 115,478,525	L169P	probably damaging	Het
Mad1l1	A	T	5: 140,315,055	S29T	possibly damaging	Het
Man1a	T	C	10: 54,074,795	H77R	probably benign	Het
Met	C	T	6: 17,558,733	S1120F	probably damaging	Het
Mfsd4b2	A	T	10: 39,921,609	I250N	probably damaging	Het
Myod1	A	G	7: 46,376,881	H70R	possibly damaging	Het
Neb	T	C	2: 52,212,692	N4280S	probably benign	Het
Nudt6	T	C	3: 37,419,489	T28A	possibly damaging	Het
Nup85	A	G	11: 115,583,734	E628G	probably damaging	Het
Oaz3	A	T	3: 94,434,988	D120E	probably damaging	Het
Olfr1031	C	A	2: 85,991,941	N41K	probably damaging	Het
Olfr1105	C	T	2: 87,033,289	A311T	probably benign	Het
Olfr131	A	T	17: 38,082,729	M83K	probably damaging	Het
Olfr1454	A	T	19: 13,063,345		probably benign	Het
Olfr786	A	C	10: 129,436,943	I44L	probably damaging	Het
Osbpl8	A	T	10: 111,273,068	K404*	probably null	Het
Pcdhga2	A	G	18: 37,670,905	N601D	probably damaging	Het
Pld2	T	C	11: 70,554,675	Y638H	probably damaging	Het
Prickle2	C	G	6: 92,458,615	V2L	possibly damaging	Het
Psmd6	G	A	14: 14,116,949	R125C	probably benign	Het
Rnaset2b	G	A	17: 6,991,694	V24I	probably benign	Het
Rusc2	A	T	4: 43,416,416	D574V	probably benign	Het
Scn8a	T	A	15: 100,940,115		probably null	Het
Sec11a	T	C	7: 80,923,131	E134G	probably benign	Het
Senp5	A	G	16: 31,989,884	V157A	probably damaging	Het
Shkbp1	C	T	7: 27,351,695		probably null	Het
Slc43a1	T	C	2: 84,859,784	L435P	probably damaging	Het
Spn	G	A	7: 127,136,723	P204L	possibly damaging	Het
Srr	T	A	11: 74,910,202	Q173L	probably damaging	Het
Star	C	G	8: 25,811,807	T222S	probably benign	Het
Timm22	T	A	11: 76,411,127	Y93N	probably damaging	Het
Tmc4	G	T	7: 3,675,459	Q58K	probably benign	Het
Tmem86b	C	T	7: 4,629,836	M1I	probably null	Het
Tmtc2	A	T	10: 105,369,970	I488N	probably damaging	Het
Tnxb	A	T	17: 34,694,388	Y1792F	probably damaging	Het
Tph1	T	A	7: 46,647,443	R443W	possibly damaging	Het
Ttyh1	T	A	7: 4,129,324	V253E	possibly damaging	Het
Usf3	A	G	16: 44,218,577	D1140G	probably benign	Het
Usp10	T	C	8: 119,941,316	S118P	probably benign	Het
Vmn2r63	C	T	7: 42,903,297	C845Y	probably benign	Het
Vmn2r72	G	T	7: 85,751,174	F222L	probably damaging	Het
Zfp654	G	A	16: 64,786,094	Q582*	probably null	Het
Zfp791	C	T	8: 85,119,650		probably benign	Het
Zfp879	T	A	11: 50,838,475	D32V	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
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'- GTGCCAGATCGTTGAAAGAGTG -3'
(R):5'- GGGGACAGGAACTTGTCTAGTG -3'

Sequencing Primer
(F):5'- GTTGAAAGAGTGAACCCTGCACTTC -3'
(R):5'- GGAACTTGTCTAGTGCACAGCATC -3'

Posted On

2018-04-27