Mutagenetix > Incidental Mutation

Incidental Mutation 'R2910:Fam227a'

261209

Institutional Source

Beutler Lab

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

MMRRC Submission

040497-MU

Accession Numbers

Essential gene?

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

Stock #

R2910 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79636734 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 296 (D296E)

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: D300E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: D300E

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: D300E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: D300E

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: D296E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230475

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

96% (49/51)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	G	A	11: 58,608,426	Q189*	probably null	Het
Abcf3	A	G	16: 20,560,232	T645A	probably damaging	Het
Acap1	A	G	11: 69,887,076		probably benign	Het
Adgrv1	G	A	13: 81,557,119	A1524V	possibly damaging	Het
Agbl1	A	G	7: 76,419,838	N121D	probably benign	Het
Ahnak	A	G	19: 9,011,654	D3434G	probably damaging	Het
Ankrd11	A	T	8: 122,908,798	D32E	probably damaging	Het
Asxl1	T	C	2: 153,401,039	S1170P	probably benign	Het
Atp8b3	G	A	10: 80,519,912	S1322F	possibly damaging	Het
Car15	G	A	16: 17,838,142		probably benign	Het
Cep104	T	A	4: 153,995,427		probably null	Het
Cnnm1	A	G	19: 43,469,647	I633V	possibly damaging	Het
Cog8	A	T	8: 107,054,221	V135E	probably benign	Het
Cts6	A	G	13: 61,196,401	V279A	probably damaging	Het
Ddx1	C	T	12: 13,231,440		probably null	Het
Dock2	A	G	11: 34,232,910		probably benign	Het
Ero1lb	T	A	13: 12,600,289	D336E	probably damaging	Het
F11	C	G	8: 45,241,449	*625S	probably null	Het
F5	A	G	1: 164,204,820	M1779V	probably benign	Het
Fbxo38	T	C	18: 62,519,807	D523G	probably benign	Het
Ggt1	G	A	10: 75,580,596	V275M	probably benign	Het
Gm379	A	C	X: 108,664,765	F43V	possibly damaging	Het
Grhl3	T	C	4: 135,559,146	I75V	probably benign	Het
Iqcm	A	T	8: 75,714,776	I226F	probably benign	Het
Kcnq1	T	G	7: 143,425,962	L615R	probably damaging	Het
Lcp2	G	A	11: 34,068,970		probably null	Het
Mbtps1	A	G	8: 119,546,037	I123T	possibly damaging	Het
Muc5ac	C	T	7: 141,807,641	T1563I	probably damaging	Het
Odf2l	A	C	3: 145,124,323	I19L	probably benign	Het
Olfr193	C	T	16: 59,110,181	R143H	probably benign	Het
Olfr993	T	A	2: 85,414,351	H176L	probably damaging	Het
Pigr	A	G	1: 130,849,533	D692G	probably damaging	Het
Pkd1l3	A	G	8: 109,667,636		probably benign	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 105,376,452		probably benign	Het
Reep2	T	C	18: 34,845,690		probably null	Het
Rubcnl	C	T	14: 75,040,808	T344I	probably benign	Het
Sema6d	C	A	2: 124,665,037	P941T	probably damaging	Het
Shcbp1l	C	A	1: 153,428,626	L144I	probably damaging	Het
Slc7a1	T	C	5: 148,352,257	E60G	probably benign	Het
Snx2	C	T	18: 53,199,874	P207S	probably damaging	Het
Spata31	T	G	13: 64,920,436	S133A	probably benign	Het
Tac1	A	G	6: 7,559,097		probably null	Het
Tfpi	A	C	2: 84,444,093	V184G	possibly damaging	Het
Tmeff1	C	A	4: 48,614,961	N139K	possibly damaging	Het
Tnxb	A	G	17: 34,672,450	D589G	probably damaging	Het
Trpc1	C	A	9: 95,749,842	A16S	probably benign	Het
Vmn2r106	A	C	17: 20,278,684	L322V	probably damaging	Het
Vmn2r69	G	T	7: 85,406,710	A740D	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
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'- TTGAAAGTCTGAGAGATAATCTGGTGG -3'
(R):5'- GTTCTGCAGGTGAACAAACCC -3'

Sequencing Primer
(F):5'- TGGAGACATCAATGCCCTGGTAC -3'
(R):5'- TTCTGCAGGTGAACAAACCCTCTAG -3'

Posted On

2015-01-23