Mutagenetix > Incidental Mutation

Incidental Mutation 'R0925:Fam227a'

83167

Institutional Source

Beutler Lab

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

MMRRC Submission

039072-MU

Accession Numbers

Essential gene?

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

Stock #

R0925 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79620805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 475 (M475K)

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: M123K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564
AA Change: M123K

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: M479K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: M479K

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: M479K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: M479K

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: M475K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231122

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F07Rik	T	A	2: 173,526,074	S47T	probably benign	Het
Adam5	T	C	8: 24,812,425	Q101R	probably benign	Het
C2cd4c	T	C	10: 79,612,750	N188D	probably benign	Het
Cdc27	A	G	11: 104,526,049		probably null	Het
Cdh11	T	A	8: 102,634,724	I661L	probably damaging	Het
Csmd1	A	G	8: 16,710,618	I167T	probably benign	Het
Dennd3	T	G	15: 73,533,435	F346V	probably damaging	Het
Dis3l	A	T	9: 64,341,130	M1K	probably null	Het
Dnajb6	A	T	5: 29,752,400	K60I	probably damaging	Het
Dock10	T	A	1: 80,536,940	H1421L	probably benign	Het
Elmod3	A	T	6: 72,568,938	C274S	probably damaging	Het
Eme1	T	C	11: 94,650,732	E88G	probably damaging	Het
Frem2	T	C	3: 53,653,973	I1038V	probably benign	Het
Gabpb1	T	A	2: 126,652,265	N147Y	probably damaging	Het
Gm5346	T	C	8: 43,626,303	I295V	probably benign	Het
Gmnc	A	G	16: 26,960,423	L278P	probably benign	Het
Gpr153	A	G	4: 152,281,874	T299A	probably benign	Het
H2-M11	T	C	17: 36,547,461	V49A	probably benign	Het
Hemgn	T	A	4: 46,397,049	K62N	probably damaging	Het
Hormad2	G	A	11: 4,427,297	T47M	probably damaging	Het
Iqcf6	A	G	9: 106,627,301	T55A	probably benign	Het
Itgam	T	C	7: 128,112,238	F705L	probably benign	Het
Klk1	T	A	7: 44,228,816		probably null	Het
Myo1f	A	T	17: 33,578,133	I123F	probably damaging	Het
Nupl1	T	C	14: 60,220,141	T538A	probably damaging	Het
Olfr510	C	T	7: 108,668,193	T259I	probably benign	Het
Olfr592	T	A	7: 103,186,823	L74*	probably null	Het
Pdzd2	C	T	15: 12,399,270	R790H	probably damaging	Het
Pigv	T	C	4: 133,662,649	K74R	probably benign	Het
Prmt8	T	C	6: 127,697,813	K284R	probably benign	Het
Rsl1d1	A	T	16: 11,199,689	Y138N	probably damaging	Het
Scara5	AC	ACC	14: 65,762,718		probably benign	Het
Smc4	T	A	3: 69,006,215		probably benign	Het
Spta1	G	A	1: 174,174,426	V41I	possibly damaging	Het
Tdrd7	C	A	4: 46,025,758	N859K	probably damaging	Het
Vps13d	T	G	4: 145,156,551	D824A	probably damaging	Het
Wdfy2	A	T	14: 62,930,226		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AAGTCGCATCCTGCTGACTGCTAC -3'
(R):5'- TCGATACCCTGGACAGAGCCAAAG -3'

Sequencing Primer
(F):5'- TGCTGACTGCTACAGTGGAC -3'
(R):5'- AGCCATAGTGGTACAGCCTTTC -3'

Posted On

2013-11-08