Mutagenetix > Incidental Mutation

Incidental Mutation 'R9613:Fam227a'

724404

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: 0.058) question?

Stock #

R9613 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79634083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 340 (T340M)

Ref Sequence

ENSEMBL: ENSMUSP00000139524 (fasta)

Gene Model

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

AlphaFold

Q9D3V8

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: T340M

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: T340M

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: T340M

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: T340M

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: T336M

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 138,065,365	R105H	probably damaging	Het
Baz2b	A	T	2: 59,901,480	N2071K	probably benign	Het
Chd9	C	A	8: 90,956,522	S530*	probably null	Het
Col6a6	G	A	9: 105,739,202	H1558Y	probably benign	Het
Cyp7a1	A	G	4: 6,272,587	F209L	probably damaging	Het
D430041D05Rik	A	G	2: 104,230,392	Y702H	probably benign	Het
Ddx46	T	A	13: 55,639,936		probably null	Het
Dgat2	C	G	7: 99,182,485	G10R	probably benign	Het
Dync2h1	T	A	9: 7,075,769	M3033L	probably damaging	Het
Eef1g	A	G	19: 8,977,654	N367S	probably benign	Het
Eef2kmt	T	G	16: 5,249,408	E94A	possibly damaging	Het
Ermp1	C	A	19: 29,639,856		probably null	Het
Ewsr1	A	C	11: 5,078,924	D346E	unknown	Het
Fxr1	G	A	3: 34,046,203	V104I	probably benign	Het
Gm12394	A	G	4: 42,792,992	V380A	probably benign	Het
Gm6176	A	G	7: 22,051,104	V134A	possibly damaging	Het
Igdcc4	G	A	9: 65,120,240	V195I	possibly damaging	Het
Ighv2-5	A	G	12: 113,685,569	I88T		Het
Irf8	A	T	8: 120,754,468	T355S	probably benign	Het
Kif20b	T	A	19: 34,942,534	S751T	possibly damaging	Het
Kitl	A	G	10: 100,080,919	N195D	probably damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,845,176		probably benign	Het
Macf1	A	G	4: 123,526,495	F322S	probably benign	Het
Map6	T	C	7: 99,269,177	S386P	possibly damaging	Het
Nup214	A	G	2: 32,011,023	D906G	possibly damaging	Het
Oacyl	A	C	18: 65,731,453	T356P	probably damaging	Het
Olfr388-ps1	A	T	11: 73,724,813	D70E	probably damaging	Het
Olfr521	A	G	7: 99,767,329	T56A	probably benign	Het
Plekha1	C	A	7: 130,877,758	P2H	probably damaging	Het
Plekhg4	T	A	8: 105,380,988	D1050E	probably damaging	Het
Plxnb2	T	C	15: 89,164,293	T638A	probably benign	Het
Pole4	T	C	6: 82,652,118	Q89R	probably benign	Het
Prg4	T	C	1: 150,455,909	T338A	unknown	Het
Prpf3	G	A	3: 95,851,619	R74*	probably null	Het
Prss44	C	A	9: 110,814,738	A150E	probably damaging	Het
Prss51	T	A	14: 64,095,012	V2E	possibly damaging	Het
Ptpn12	A	G	5: 20,998,623	Y386H	probably damaging	Het
Sept4	A	T	11: 87,578,997	H3L	possibly damaging	Het
Spata16	G	A	3: 26,878,665	V347M	probably damaging	Het
Spinkl	T	A	18: 44,168,145	Y42F	probably damaging	Het
Suds3	A	T	5: 117,105,169	M168K	possibly damaging	Het
Tdrd6	A	G	17: 43,628,627	I510T	probably damaging	Het
Tnfrsf22	T	C	7: 143,644,846	H44R	probably benign	Het
Trh	G	A	6: 92,242,859	R159*	probably null	Het
Ubr4	C	A	4: 139,421,762	S457R		Het
Usp54	T	C	14: 20,550,370	Y1433C	probably damaging	Het
Vmn1r120	G	A	7: 21,053,121	L222F	probably benign	Het
Vmn2r22	T	C	6: 123,638,116	I172V	probably damaging	Het
Vmn2r84	A	G	10: 130,390,722	S416P	probably damaging	Het
Wapl	T	C	14: 34,731,563	V855A	probably benign	Het
Zmynd19	A	G	2: 24,958,205	I177V		Het
Zscan4e	G	A	7: 11,306,971	Q325*	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
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
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
R9668:Fam227a	UTSW	15	79642243	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TGTGGATAGTCTGGGCCCTATC -3'
(R):5'- TCTGCCTTGTTGAGCAGAG -3'

Sequencing Primer
(F):5'- TATCAGGCCCCACTCTGAG -3'
(R):5'- TTGTTGAGCAGAGGCCCG -3'

Posted On

2022-09-12