Mutagenetix > Incidental Mutation

Incidental Mutation 'R5225:Fam227a'

402581

Institutional Source

Beutler Lab

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

MMRRC Submission

042798-MU

Accession Numbers

Essential gene?

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

Stock #

R5225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79636735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 296 (D296G)

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

possibly damaging
Transcript: ENSMUST00000109648
AA Change: D300G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: D300G

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: D300G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: D300G

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: D296G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230475

Meta Mutation Damage Score

0.1569

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 9,008,007	R465*	probably null	Het
Abcg3	A	T	5: 104,966,783	D289E	probably damaging	Het
Ablim2	G	T	5: 35,866,771		probably null	Het
Acp1	A	T	12: 30,905,079	V36D	probably benign	Het
Adgrb1	T	A	15: 74,577,499		probably benign	Het
Akap6	G	A	12: 52,886,546	V274I	probably damaging	Het
Arhgap39	T	C	15: 76,725,515		probably benign	Het
Bmp1	G	A	14: 70,480,165	R789W	probably damaging	Het
Cfhr2	T	A	1: 139,821,782	Y154F	possibly damaging	Het
Cilp2	T	C	8: 69,883,365	Y358C	probably damaging	Het
Cyp1a2	T	A	9: 57,677,233	K513*	probably null	Het
Dennd4a	G	T	9: 64,888,928	K745N	possibly damaging	Het
Dlg1	T	A	16: 31,836,267	S542T	probably benign	Het
Dmbt1	A	T	7: 131,094,735	I893F	possibly damaging	Het
Dnhd1	A	T	7: 105,703,923	E2761V	possibly damaging	Het
F11	T	C	8: 45,255,304	T40A	probably benign	Het
Fance	C	T	17: 28,315,615		probably benign	Het
Gaa	A	G	11: 119,276,843	D149G	probably damaging	Het
Gapt	A	G	13: 110,353,988	M47T	possibly damaging	Het
Gm1110	T	C	9: 26,902,478	N202D	probably damaging	Het
Gm16432	A	T	1: 178,148,908		probably benign	Het
Gm7535	T	C	17: 17,911,547		probably benign	Het
Gm973	T	A	1: 59,562,700	M491K	probably benign	Het
Gmnc	A	G	16: 26,963,945	V27A	probably benign	Het
Kif27	T	C	13: 58,293,101	T1167A	possibly damaging	Het
Klrg1	T	A	6: 122,271,372	*189C	probably null	Het
Lime1	T	A	2: 181,382,847	M98K	probably benign	Het
Lrp1	C	A	10: 127,556,096	A2867S	probably benign	Het
Lrrd1	G	A	5: 3,858,735	S669N	probably benign	Het
Mmel1	A	G	4: 154,891,999	N520S	probably damaging	Het
Mrpl48	A	C	7: 100,549,328	L206V	probably damaging	Het
Nagpa	C	T	16: 5,203,732	A52T	probably benign	Het
Olfr1264	T	G	2: 90,021,184	D294A	probably benign	Het
Olfr98	A	G	17: 37,263,028	V212A	probably benign	Het
Orai2	A	G	5: 136,161,501	S71P	probably damaging	Het
Pcbp1	A	T	6: 86,525,227	I230N	probably damaging	Het
Pcdh15	T	C	10: 74,303,154	L349P	probably damaging	Het
Pcdhb16	T	C	18: 37,479,958	V657A	probably benign	Het
Prdm15	G	T	16: 97,808,675	H590N	probably damaging	Het
Psg18	T	C	7: 18,345,949	I442M	probably damaging	Het
Pygm	C	A	19: 6,389,464	D279E	probably benign	Het
Rrn3	T	A	16: 13,792,934		probably null	Het
Sass6	T	C	3: 116,614,053	S273P	possibly damaging	Het
Schip1	A	G	3: 68,494,937	M116V	probably benign	Het
Sdc3	G	A	4: 130,818,776	V55I	unknown	Het
Serpinb8	T	A	1: 107,597,471	M1K	probably null	Het
Slc24a5	T	C	2: 125,085,819	I346T	probably damaging	Het
Slc35f3	T	A	8: 126,391,107	I335N	probably damaging	Het
Snapc2	T	A	8: 4,255,299	V147E	probably damaging	Het
Snx2	T	C	18: 53,189,712	S56P	possibly damaging	Het
Sptbn5	A	G	2: 120,085,331		probably benign	Het
Stk19	A	T	17: 34,821,424		probably benign	Het
Sulf1	A	G	1: 12,841,478	E692G	probably benign	Het
Tet1	C	T	10: 62,838,671	V1209I	probably damaging	Het
Tln1	T	C	4: 43,539,406	T1639A	probably benign	Het
Tmem135	G	T	7: 89,196,127	Y165*	probably null	Het
Tmprss6	T	C	15: 78,452,507	T398A	probably damaging	Het
Ube4a	C	T	9: 44,939,960		probably null	Het
Vmn1r227	T	C	17: 20,735,237		noncoding transcript	Het
Wdhd1	T	C	14: 47,250,816	S745G	probably benign	Het
Xylt1	A	G	7: 117,592,036	H353R	probably damaging	Het
Zfp788	A	G	7: 41,649,556	T539A	probably benign	Het
Zfp866	A	T	8: 69,765,441	F510I	possibly 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
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'- TGGTGGCCAGTTTGAAAGTC -3'
(R):5'- GGTGAACAAACCCTCTAGAGAG -3'

Sequencing Primer
(F):5'- TGGCCAGTTTGAAAGTCTGAGAG -3'
(R):5'- CAAGGCCAGGACAACGCTG -3'

Posted On

2016-07-22