Mutagenetix > Incidental Mutation

Incidental Mutation 'R0723:Fam214a'

63618

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

038905-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

R0723 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

74952884-75032468 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75009451 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 444 (G444E)

Ref Sequence

ENSEMBL: ENSMUSP00000150065 (fasta)

Gene Model

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

AlphaFold

Q69ZK7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081746
AA Change: G451E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080442
Gene: ENSMUSG00000034858
AA Change: G451E

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 damaging
Transcript: ENSMUST00000170846
AA Change: G444E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129319
Gene: ENSMUSG00000034858
AA Change: G444E

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 damaging
Transcript: ENSMUST00000214755
AA Change: G444E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215370
AA Change: G444E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.0992

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.0%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	A	4: 42,971,691	N341K	probably damaging	Het
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
4931423N10Rik	T	C	2: 23,256,924		probably benign	Het
8030411F24Rik	T	C	2: 148,783,362	I72T	probably damaging	Het
Acbd5	T	G	2: 23,069,596	V54G	probably damaging	Het
Acin1	A	T	14: 54,665,451	S255T	probably damaging	Het
Adcy2	A	G	13: 68,999,129	L56P	probably damaging	Het
Akap6	G	T	12: 53,141,902	C2033F	probably damaging	Het
Ano5	A	G	7: 51,587,758	I777V	probably benign	Het
Arhgef28	A	G	13: 97,939,479	V1349A	probably benign	Het
Bank1	T	C	3: 136,054,403		probably null	Het
C2cd5	T	C	6: 143,041,555		probably benign	Het
Cadps2	A	G	6: 23,287,698	V1161A	probably damaging	Het
Car8	A	T	4: 8,169,703	D268E	probably benign	Het
Ckap5	T	A	2: 91,555,331	S175T	probably damaging	Het
Clk4	T	A	11: 51,275,493	Y67*	probably null	Het
Copg2	T	C	6: 30,815,982	I473V	possibly damaging	Het
Cyp2s1	C	T	7: 25,809,548	V43I	probably benign	Het
Ddx54	A	G	5: 120,623,638	D493G	probably benign	Het
Efemp2	T	C	19: 5,480,050	S140P	probably damaging	Het
Fat1	C	A	8: 45,026,749	T2944K	probably damaging	Het
Fgfr1	T	A	8: 25,557,768	D43E	probably damaging	Het
Fry	G	A	5: 150,496,360	A996T	probably damaging	Het
Fyb2	G	A	4: 105,015,866	V784I	probably benign	Het
Gm6507	T	A	6: 89,185,162		noncoding transcript	Het
Gm7964	T	C	7: 83,756,166		noncoding transcript	Het
Gucy2c	T	C	6: 136,727,801		probably null	Het
Hdac10	A	T	15: 89,126,418	L259Q	probably damaging	Het
Hoxd9	A	T	2: 74,698,828	D258V	probably damaging	Het
Hs3st3b1	T	C	11: 63,921,575	T105A	probably benign	Het
Hsd17b7	A	G	1: 169,956,026	L271P	probably damaging	Het
Ifnlr1	T	A	4: 135,701,213		probably benign	Het
Kif22	A	T	7: 127,033,906	M121K	probably damaging	Het
Kl	G	A	5: 150,953,101	D129N	probably damaging	Het
Mettl13	A	T	1: 162,534,430	I648N	probably damaging	Het
Mlh1	C	T	9: 111,271,472	R18H	probably damaging	Het
Mtmr14	T	C	6: 113,270,512		probably benign	Het
Myo15	C	A	11: 60,478,977	N854K	possibly damaging	Het
Myo1h	T	C	5: 114,319,680	I84T	probably benign	Het
Myo9a	A	T	9: 59,871,100	S1380C	probably benign	Het
Myof	A	G	19: 37,981,260	V318A	probably damaging	Het
N4bp2l2	A	G	5: 150,662,432	S28P	probably damaging	Het
Narfl	G	A	17: 25,781,821	V406M	probably damaging	Het
Nbr1	C	T	11: 101,576,319	Q570*	probably null	Het
Nhp2	C	T	11: 51,619,923	Q36*	probably null	Het
Olfr23	T	G	11: 73,940,270	V8G	probably benign	Het
Olfr884	G	T	9: 38,047,827	V202L	probably benign	Het
Poc1b	T	A	10: 99,129,595	W129R	probably damaging	Het
Rapgef2	C	T	3: 79,079,174	E1018K	probably benign	Het
Rgs12	T	C	5: 35,024,366		probably benign	Het
Rufy2	G	A	10: 62,998,094	V280I	probably benign	Het
Snx2	A	G	18: 53,210,372	I281V	probably benign	Het
Spag5	C	A	11: 78,319,584		probably benign	Het
Stxbp5	A	T	10: 9,768,873	I961N	probably damaging	Het
Tet2	T	C	3: 133,467,284	E1739G	probably benign	Het
Tmod2	A	G	9: 75,595,055	F50S	possibly damaging	Het
Tnfsf13b	T	G	8: 10,007,166		probably null	Het
Ttn	T	C	2: 76,786,335	K16525E	possibly damaging	Het
Txnrd2	T	C	16: 18,440,879		probably benign	Het
Ubr1	A	T	2: 120,881,101	Y1437*	probably null	Het
Vwf	C	A	6: 125,566,262	D170E	probably benign	Het
Wdr95	C	G	5: 149,574,048	I230M	probably damaging	Het
Xirp2	C	T	2: 67,512,215	S1600F	probably damaging	Het
Zfp12	A	G	5: 143,244,883	K322E	probably damaging	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
R1428:Fam214a	UTSW	9	75006321	missense	probably benign	0.07
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

Predicted Primers

PCR Primer
(F):5'- TCATTGCCAGGATTGCTCAGCAC -3'
(R):5'- CTAGGTTTGAGGCTTTCCCCATCAC -3'

Sequencing Primer
(F):5'- GGATTGCTCAGCACTTGATTCAC -3'
(R):5'- AGGACACTTCTGTATGAGACAC -3'

Posted On

2013-07-30