Mutagenetix > Incidental Mutation

Incidental Mutation 'R9014:Fam227a'

685868

Institutional Source

Beutler Lab

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

MMRRC Submission

068844-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R9014 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79493777-79543157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79504958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 495 (N495I)

Ref Sequence

ENSEMBL: ENSMUSP00000139524 (fasta)

Gene Model

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

AlphaFold

Q9D3V8

Predicted Effect

probably damaging
Transcript: ENSMUST00000109646
AA Change: N139I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564
AA Change: N139I

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: N495I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: N495I

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: N495I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: N495I

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 damaging
Transcript: ENSMUST00000229064
AA Change: N491I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	A	G	15: 81,798,857 (GRCm39)	N746S	probably benign	Het
Ahnak2	T	C	12: 112,740,170 (GRCm39)	T1301A	possibly damaging	Het
Akap6	T	A	12: 53,186,403 (GRCm39)	N1272K	possibly damaging	Het
Apc	G	T	18: 34,354,074 (GRCm39)		probably benign	Het
Arap1	A	G	7: 101,053,540 (GRCm39)	S1290G	probably damaging	Het
Arhgef25	T	C	10: 127,019,607 (GRCm39)	Y483C	probably damaging	Het
Arpp21	G	T	9: 112,006,796 (GRCm39)	Q138K	probably damaging	Het
Bahcc1	T	C	11: 120,173,048 (GRCm39)	S1557P	probably benign	Het
Bahcc1	C	T	11: 120,163,715 (GRCm39)	A671V	probably benign	Het
Bltp2	T	C	11: 78,160,488 (GRCm39)	L649P	possibly damaging	Het
Brca2	C	A	5: 150,465,219 (GRCm39)	T1661K	probably benign	Het
Casq1	T	A	1: 172,038,064 (GRCm39)	S356C	probably damaging	Het
Catsperg1	T	C	7: 28,906,066 (GRCm39)	Y171C	probably damaging	Het
Ccdc88c	G	C	12: 100,879,323 (GRCm39)	Q1926E	probably benign	Het
Cdc42bpg	T	A	19: 6,372,289 (GRCm39)	M1425K	possibly damaging	Het
Chac2	C	T	11: 30,936,158 (GRCm39)	R30Q	probably damaging	Het
Clca3a1	T	C	3: 144,442,731 (GRCm39)	D771G	probably benign	Het
Cyp26c1	T	C	19: 37,675,844 (GRCm39)		probably null	Het
Dcaf8	T	C	1: 172,007,530 (GRCm39)	V333A	possibly damaging	Het
Dennd4c	G	A	4: 86,739,702 (GRCm39)	S997N	probably benign	Het
Dennd4c	A	C	4: 86,754,666 (GRCm39)	I1559L	probably benign	Het
Dgcr8	T	G	16: 18,077,514 (GRCm39)	H632P	possibly damaging	Het
Dhx16	C	A	17: 36,193,490 (GRCm39)	R278S	probably benign	Het
Dsel	A	T	1: 111,788,509 (GRCm39)	Y675*	probably null	Het
Dsp	T	C	13: 38,376,700 (GRCm39)	I1495T	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,876 (GRCm39)	E1834G	probably damaging	Het
Focad	T	A	4: 88,275,763 (GRCm39)	M1124K	unknown	Het
Foxi3	A	G	6: 70,937,815 (GRCm39)	H349R	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Fsip2	C	A	2: 82,806,898 (GRCm39)	D1072E	probably benign	Het
Fsip2	T	G	2: 82,817,075 (GRCm39)	H4269Q	possibly damaging	Het
Fzd10	C	G	5: 128,679,369 (GRCm39)	P363R	probably damaging	Het
Gm49383	A	C	12: 69,243,425 (GRCm39)	Y151*	probably null	Het
Ighv1-26	T	A	12: 114,752,033 (GRCm39)	S104C	probably damaging	Het
Kat6a	A	G	8: 23,430,087 (GRCm39)	N1814S	unknown	Het
Kif18a	T	A	2: 109,123,414 (GRCm39)	H229Q	probably damaging	Het
Klk1b4	C	T	7: 43,859,098 (GRCm39)	R39C	probably benign	Het
Lgr6	T	C	1: 134,931,248 (GRCm39)	I269V	probably damaging	Het
Lrtm2	A	G	6: 119,294,219 (GRCm39)	V304A	probably damaging	Het
Lsm8	A	G	6: 18,853,632 (GRCm39)	D78G	possibly damaging	Het
Mroh2b	T	C	15: 4,928,670 (GRCm39)	M1T	probably null	Het
Ms4a14	T	C	19: 11,278,871 (GRCm39)	E1229G	possibly damaging	Het
Nbeal1	G	A	1: 60,329,118 (GRCm39)	D2179N	probably damaging	Het
Nfix	G	A	8: 85,448,405 (GRCm39)	T366M	possibly damaging	Het
Or12j4	A	T	7: 140,045,883 (GRCm39)		probably benign	Het
Or56b1b	A	G	7: 108,164,882 (GRCm39)	L40P	possibly damaging	Het
Or8b49	T	C	9: 38,506,123 (GRCm39)	V202A	probably damaging	Het
Or8h9	T	A	2: 86,789,035 (GRCm39)	I256F	probably benign	Het
Pear1	T	C	3: 87,658,479 (GRCm39)	Q964R	probably benign	Het
Pgk2	T	G	17: 40,518,687 (GRCm39)	E247A	probably benign	Het
Ppfia2	C	T	10: 106,763,666 (GRCm39)	P1220S	probably benign	Het
Ppp1r1b	T	C	11: 98,241,449 (GRCm39)	S46P	probably damaging	Het
Ppp2ca	C	A	11: 52,009,510 (GRCm39)	H167Q	probably damaging	Het
Scel	A	T	14: 103,822,575 (GRCm39)	R396S	probably benign	Het
Siae	T	C	9: 37,557,639 (GRCm39)	V482A	possibly damaging	Het
Skint2	A	G	4: 112,483,026 (GRCm39)	M144V	probably benign	Het
Slc23a3	A	G	1: 75,109,274 (GRCm39)	F219L	probably benign	Het
Slc4a4	G	T	5: 89,280,245 (GRCm39)	A348S	probably damaging	Het
Spin1	G	T	13: 51,282,010 (GRCm39)		probably null	Het
Tab2	G	A	10: 7,794,920 (GRCm39)	R521W	probably damaging	Het
Tas2r118	G	A	6: 23,970,049 (GRCm39)	T4M	probably benign	Het
Tet2	T	A	3: 133,172,949 (GRCm39)	D1771V	probably damaging	Het
Tmprss15	T	C	16: 78,872,691 (GRCm39)	T172A	probably benign	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Txnrd3	A	G	6: 89,631,091 (GRCm39)	Y129C	probably damaging	Het
Ulk4	A	G	9: 121,017,294 (GRCm39)	I728T	probably benign	Het
Vmn1r44	G	A	6: 89,870,997 (GRCm39)	V248M	possibly damaging	Het
Wdr64	A	G	1: 175,526,395 (GRCm39)	I15V	probably benign	Het
Zdhhc17	T	C	10: 110,785,544 (GRCm39)	T423A	probably benign	Het
Zfp619	T	C	7: 39,187,246 (GRCm39)	I1092T	probably benign	Het
Zfp729b	A	T	13: 67,740,274 (GRCm39)	Y664N	probably damaging	Het

Other mutations in Fam227a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01650:Fam227a	APN	15	79,518,274 (GRCm39)	missense	possibly damaging	0.66
IGL01807:Fam227a	APN	15	79,533,856 (GRCm39)	missense	probably benign	0.03
IGL01936:Fam227a	APN	15	79,496,747 (GRCm39)	missense	possibly damaging	0.90
IGL02355:Fam227a	APN	15	79,528,139 (GRCm39)	intron	probably benign
IGL02362:Fam227a	APN	15	79,528,139 (GRCm39)	intron	probably benign
IGL02569:Fam227a	APN	15	79,518,323 (GRCm39)	missense	probably benign
IGL02713:Fam227a	APN	15	79,520,997 (GRCm39)	splice site	probably benign
IGL02734:Fam227a	APN	15	79,502,042 (GRCm39)	splice site	probably benign
IGL02816:Fam227a	APN	15	79,510,497 (GRCm39)	missense	possibly damaging	0.66
IGL03354:Fam227a	APN	15	79,520,951 (GRCm39)	missense	possibly damaging	0.91
R0105:Fam227a	UTSW	15	79,505,033 (GRCm39)	missense	possibly damaging	0.90
R0194:Fam227a	UTSW	15	79,524,870 (GRCm39)	nonsense	probably null
R0437:Fam227a	UTSW	15	79,528,189 (GRCm39)	missense	possibly damaging	0.90
R0786:Fam227a	UTSW	15	79,510,469 (GRCm39)	missense	probably benign	0.01
R0925:Fam227a	UTSW	15	79,505,006 (GRCm39)	missense	probably benign	0.04
R1200:Fam227a	UTSW	15	79,496,738 (GRCm39)	missense	possibly damaging	0.66
R1424:Fam227a	UTSW	15	79,518,309 (GRCm39)	missense	probably benign	0.34
R1474:Fam227a	UTSW	15	79,499,582 (GRCm39)	missense	probably damaging	0.97
R1495:Fam227a	UTSW	15	79,510,446 (GRCm39)	missense	probably benign	0.00
R1561:Fam227a	UTSW	15	79,520,963 (GRCm39)	missense	possibly damaging	0.95
R1661:Fam227a	UTSW	15	79,504,878 (GRCm39)	splice site	probably null
R1669:Fam227a	UTSW	15	79,504,878 (GRCm39)	splice site	probably null
R1967:Fam227a	UTSW	15	79,521,335 (GRCm39)	missense	possibly damaging	0.93
R1976:Fam227a	UTSW	15	79,510,477 (GRCm39)	missense	possibly damaging	0.83
R2197:Fam227a	UTSW	15	79,507,668 (GRCm39)	missense	probably damaging	0.97
R2230:Fam227a	UTSW	15	79,499,582 (GRCm39)	missense	possibly damaging	0.66
R2231:Fam227a	UTSW	15	79,499,582 (GRCm39)	missense	possibly damaging	0.66
R2232:Fam227a	UTSW	15	79,499,582 (GRCm39)	missense	possibly damaging	0.66
R2910:Fam227a	UTSW	15	79,520,935 (GRCm39)	missense	possibly damaging	0.81
R3027:Fam227a	UTSW	15	79,532,934 (GRCm39)	splice site	probably null
R3943:Fam227a	UTSW	15	79,505,060 (GRCm39)	splice site	probably benign
R4811:Fam227a	UTSW	15	79,499,628 (GRCm39)	missense	possibly damaging	0.66
R4845:Fam227a	UTSW	15	79,533,912 (GRCm39)	missense	probably damaging	0.99
R4896:Fam227a	UTSW	15	79,521,255 (GRCm39)	missense	probably benign	0.32
R4934:Fam227a	UTSW	15	79,521,262 (GRCm39)	missense	possibly damaging	0.71
R4941:Fam227a	UTSW	15	79,524,204 (GRCm39)	critical splice donor site	probably null
R5225:Fam227a	UTSW	15	79,520,936 (GRCm39)	missense	possibly damaging	0.90
R5369:Fam227a	UTSW	15	79,499,637 (GRCm39)	missense	probably benign	0.27
R5593:Fam227a	UTSW	15	79,524,259 (GRCm39)	utr 3 prime	probably benign
R6311:Fam227a	UTSW	15	79,524,895 (GRCm39)	missense	probably benign	0.23
R6362:Fam227a	UTSW	15	79,527,551 (GRCm39)	missense	possibly damaging	0.53
R6532:Fam227a	UTSW	15	79,520,921 (GRCm39)	missense	probably benign	0.00
R7239:Fam227a	UTSW	15	79,518,263 (GRCm39)	critical splice donor site	probably null
R7619:Fam227a	UTSW	15	79,501,967 (GRCm39)	missense	probably benign
R7719:Fam227a	UTSW	15	79,504,913 (GRCm39)	missense	possibly damaging	0.53
R8006:Fam227a	UTSW	15	79,518,299 (GRCm39)	missense	possibly damaging	0.61
R8048:Fam227a	UTSW	15	79,533,959 (GRCm39)	start codon destroyed	probably null
R8175:Fam227a	UTSW	15	79,524,861 (GRCm39)	missense	probably damaging	0.97
R8439:Fam227a	UTSW	15	79,514,271 (GRCm39)	missense	possibly damaging	0.53
R9034:Fam227a	UTSW	15	79,532,952 (GRCm39)	missense	probably benign	0.00
R9582:Fam227a	UTSW	15	79,501,978 (GRCm39)	missense	probably benign	0.33
R9613:Fam227a	UTSW	15	79,518,284 (GRCm39)	missense	probably benign	0.09
R9668:Fam227a	UTSW	15	79,526,444 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TTTCTAATTGGGGCCACTCAG -3'
(R):5'- ATTTTGGGTGCCTCCTCCAG -3'

Sequencing Primer
(F):5'- TCTAATTGGGGCCACTCAGAAACG -3'
(R):5'- GAGCACCAAACGTCATCCTTTG -3'

Posted On

2021-10-11