Mutagenetix > Incidental Mutation

Incidental Mutation 'R1428:Fam214a'

161398

Institutional Source

Beutler Lab

Gene Symbol

Fam214a

Ensembl Gene

ENSMUSG00000034858

Gene Name

family with sequence similarity 214, member A

Synonyms

BC031353, C130047D21Rik, 6330415I01Rik

MMRRC Submission

039484-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R1428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74952884-75032468 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75006321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 79 (T79S)

Ref Sequence

ENSEMBL: ENSMUSP00000150065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081746] [ENSMUST00000170846] [ENSMUST00000214755] [ENSMUST00000215370]

AlphaFold

Q69ZK7

Predicted Effect

probably benign
Transcript: ENSMUST00000081746
AA Change: T86S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000080442
Gene: ENSMUSG00000034858
AA Change: T86S

Domain	Start	End	E-Value	Type
low complexity region	349	360	N/A	INTRINSIC
internal_repeat_1	361	458	7.22e-14	PROSPERO
internal_repeat_1	473	570	7.22e-14	PROSPERO
low complexity region	840	859	N/A	INTRINSIC
DUF4210	885	943	8.5e-29	SMART
Pfam:Chromosome_seg	1024	1081	3.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170846
AA Change: T79S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000129319
Gene: ENSMUSG00000034858
AA Change: T79S

Domain	Start	End	E-Value	Type
low complexity region	342	353	N/A	INTRINSIC
internal_repeat_1	354	451	8.38e-14	PROSPERO
internal_repeat_1	466	563	8.38e-14	PROSPERO
low complexity region	833	852	N/A	INTRINSIC
DUF4210	878	936	8.5e-29	SMART
Pfam:Chromosome_seg	1016	1074	1.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214755
AA Change: T79S

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000215370
AA Change: T79S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.0688

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.2%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,411	I249M	possibly damaging	Het
2410089E03Rik	T	A	15: 8,219,369	Y1801N	possibly damaging	Het
Abl1	G	T	2: 31,801,810	A1114S	probably damaging	Het
Acbd5	T	C	2: 23,099,721	V452A	probably damaging	Het
Armc12	A	G	17: 28,537,936	D225G	probably damaging	Het
Atad3a	T	A	4: 155,755,682	Q121H	probably damaging	Het
Bptf	T	A	11: 107,073,047	I1711F	probably damaging	Het
C2cd4c	A	T	10: 79,612,230	I361N	probably damaging	Het
Canx	A	G	11: 50,308,394		probably benign	Het
Ccdc127	C	T	13: 74,356,915	T194I	probably benign	Het
Cdc42ep3	T	C	17: 79,335,036	K152E	probably benign	Het
Cdh15	G	C	8: 122,857,495	E112Q	probably damaging	Het
Cnbd2	T	C	2: 156,339,284		probably null	Het
Crybg1	T	C	10: 43,975,078	N1599S	probably benign	Het
Cyc1	T	C	15: 76,344,348	V59A	probably benign	Het
Cyp2j11	T	C	4: 96,294,880	K484E	probably benign	Het
Ddx60	T	C	8: 61,958,159		probably benign	Het
Epg5	T	C	18: 77,962,427	S711P	probably damaging	Het
Espl1	A	T	15: 102,305,685	Q649L	probably benign	Het
Eya1	G	A	1: 14,304,414		probably benign	Het
Fam71e2	T	A	7: 4,757,688	H675L	possibly damaging	Het
Fat2	T	A	11: 55,296,087	Y1311F	probably damaging	Het
Gins4	T	C	8: 23,227,128	Y208C	probably damaging	Het
Gsk3b	T	C	16: 38,090,575	V17A	probably benign	Het
Gykl1	A	T	18: 52,694,761	K347I	probably benign	Het
Helz	T	A	11: 107,592,840		probably benign	Het
Hivep3	C	T	4: 120,096,575	T696I	possibly damaging	Het
Ifi27l2a	G	T	12: 103,442,834		probably benign	Het
Kif13a	A	G	13: 46,791,511		probably benign	Het
Kpna3	C	T	14: 61,383,220		probably benign	Het
Mmp15	C	G	8: 95,369,562	P327R	probably benign	Het
Mrc1	A	T	2: 14,315,263	T1003S	probably benign	Het
Mtss1	T	C	15: 58,947,390	D393G	probably benign	Het
Olfm4	T	A	14: 80,021,403	Y331N	probably damaging	Het
Olfr1255	G	C	2: 89,816,381	L12F	probably damaging	Het
Olfr517	T	A	7: 108,868,960	N65Y	probably damaging	Het
P2rx3	G	C	2: 85,024,950	T54R	possibly damaging	Het
Pacsin1	C	T	17: 27,705,963	T217I	probably damaging	Het
Phlpp1	A	G	1: 106,380,425		probably null	Het
Pknox1	T	C	17: 31,592,092		probably benign	Het
Plb1	A	G	5: 32,264,912	R70G	possibly damaging	Het
Rab3gap2	G	A	1: 185,247,904	A340T	probably damaging	Het
Rnf103	T	A	6: 71,508,999	W205R	probably damaging	Het
Rps6kc1	G	A	1: 190,798,726	T936M	probably damaging	Het
Spef2	T	C	15: 9,596,707		probably benign	Het
Sstr4	A	G	2: 148,396,359	S297G	probably benign	Het
Timm8a1	C	T	X: 134,538,123	E93K	probably benign	Het
Uck1	A	C	2: 32,258,355	Y150D	probably damaging	Het
Yipf4	A	G	17: 74,498,305		probably benign	Het

Other mutations in Fam214a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Fam214a	APN	9	75025790	missense	probably benign	0.28
IGL00588:Fam214a	APN	9	75009581	missense	probably damaging	1.00
IGL01887:Fam214a	APN	9	75017057	missense	probably benign	0.39
IGL02828:Fam214a	APN	9	75006432	missense	probably damaging	1.00
IGL03060:Fam214a	APN	9	75010168	missense	probably damaging	0.96
IGL03277:Fam214a	APN	9	75009232	missense	probably damaging	1.00
R0052:Fam214a	UTSW	9	75018983	splice site	probably benign
R0052:Fam214a	UTSW	9	75018983	splice site	probably benign
R0615:Fam214a	UTSW	9	75004288	missense	probably damaging	1.00
R0723:Fam214a	UTSW	9	75009451	missense	probably damaging	1.00
R1448:Fam214a	UTSW	9	75010174	nonsense	probably null
R1656:Fam214a	UTSW	9	75008959	missense	probably benign	0.00
R2024:Fam214a	UTSW	9	75010390	missense	probably damaging	0.98
R3147:Fam214a	UTSW	9	75008838	missense	probably benign	0.25
R3745:Fam214a	UTSW	9	75009862	missense	probably benign	0.00
R4105:Fam214a	UTSW	9	75008776	missense	probably damaging	1.00
R4224:Fam214a	UTSW	9	75008726	missense	probably damaging	1.00
R4496:Fam214a	UTSW	9	75031531	missense	probably damaging	0.99
R4519:Fam214a	UTSW	9	75023647	missense	probably damaging	1.00
R4715:Fam214a	UTSW	9	75012968	missense	probably damaging	1.00
R4885:Fam214a	UTSW	9	75006367	missense	probably damaging	1.00
R5009:Fam214a	UTSW	9	75008889	missense	probably damaging	0.98
R5574:Fam214a	UTSW	9	75010390	missense	probably damaging	1.00
R5645:Fam214a	UTSW	9	75025679	missense	probably damaging	1.00
R5696:Fam214a	UTSW	9	75010117	missense	probably benign	0.01
R5891:Fam214a	UTSW	9	75004386	missense	probably damaging	1.00
R5936:Fam214a	UTSW	9	75009304	missense	probably benign	0.00
R6165:Fam214a	UTSW	9	75025672	missense	probably damaging	0.96
R6228:Fam214a	UTSW	9	75006363	missense	possibly damaging	0.94
R6419:Fam214a	UTSW	9	75009337	missense	probably benign	0.20
R6499:Fam214a	UTSW	9	75023648	missense	probably damaging	1.00
R6631:Fam214a	UTSW	9	74953825	missense	possibly damaging	0.71
R6649:Fam214a	UTSW	9	75010150	missense	probably damaging	0.96
R6849:Fam214a	UTSW	9	75009312	missense	probably damaging	0.96
R7189:Fam214a	UTSW	9	75004351	missense	probably damaging	0.99
R7402:Fam214a	UTSW	9	75006386	nonsense	probably null
R8691:Fam214a	UTSW	9	75010053	missense	probably benign	0.09
R8769:Fam214a	UTSW	9	75025825	missense	probably damaging	1.00
R8944:Fam214a	UTSW	9	75004280	missense	probably damaging	1.00
R9323:Fam214a	UTSW	9	74976133	intron	probably benign
R9621:Fam214a	UTSW	9	75010230	missense	possibly damaging	0.62
R9649:Fam214a	UTSW	9	75017067	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- CATGCCACAAGTCCTCTACTGCTG -3'
(R):5'- TCCACGCTGAACAACTCACTGTCG -3'

Sequencing Primer
(F):5'- ggaagccagaagagaccag -3'
(R):5'- AACTCACTGTCGGGGAACTG -3'

Posted On

2014-03-14