Mutagenetix > Incidental Mutations

Incidental Mutation 'R6556:Fam214b'

522144

Institutional Source

Beutler Lab

Gene Symbol

Fam214b

Ensembl Gene

ENSMUSG00000036002

Gene Name

family with sequence similarity 214, member B

Synonyms

B230312A22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R6556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43032414-43046220 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43033896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 460 (R460H)

Ref Sequence

ENSEMBL: ENSMUSP00000103593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030169] [ENSMUST00000036462] [ENSMUST00000107956] [ENSMUST00000107957] [ENSMUST00000107958] [ENSMUST00000107959] [ENSMUST00000124155] [ENSMUST00000135067] [ENSMUST00000136326] [ENSMUST00000138030] [ENSMUST00000152846] [ENSMUST00000144999]

AlphaFold

Q8BR27

Predicted Effect

probably benign
Transcript: ENSMUST00000030169

SMART Domains

Protein: ENSMUSP00000030169
Gene: ENSMUSG00000028455

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
PHB	36	194	1.47e-57	SMART
coiled coil region	231	252	N/A	INTRINSIC
Pfam:Band_7_C	259	321	2.1e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000036462
AA Change: R460H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038177
Gene: ENSMUSG00000036002
AA Change: R460H

Domain	Start	End	E-Value	Type
low complexity region	100	112	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	327	345	N/A	INTRINSIC
DUF4210	348	406	9.25e-30	SMART
Pfam:Chromosome_seg	479	537	8.8e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107956
AA Change: R460H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103590
Gene: ENSMUSG00000036002
AA Change: R460H

Domain	Start	End	E-Value	Type
low complexity region	100	112	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	327	345	N/A	INTRINSIC
DUF4210	348	406	9.25e-30	SMART
Pfam:Chromosome_seg	479	537	8.8e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107957
AA Change: R460H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103591
Gene: ENSMUSG00000036002
AA Change: R460H

Domain	Start	End	E-Value	Type
low complexity region	100	112	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	327	345	N/A	INTRINSIC
DUF4210	348	406	9.25e-30	SMART
Pfam:Chromosome_seg	479	537	8.8e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107958
AA Change: R460H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103592
Gene: ENSMUSG00000036002
AA Change: R460H

Domain	Start	End	E-Value	Type
low complexity region	100	112	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	327	345	N/A	INTRINSIC
DUF4210	348	406	9.25e-30	SMART
Pfam:Chromosome_seg	479	537	8.8e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107959
AA Change: R460H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103593
Gene: ENSMUSG00000036002
AA Change: R460H

Domain	Start	End	E-Value	Type
low complexity region	100	112	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC
low complexity region	307	326	N/A	INTRINSIC
low complexity region	327	345	N/A	INTRINSIC
DUF4210	348	406	9.25e-30	SMART
Pfam:Chromosome_seg	480	537	8.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123465

Predicted Effect

probably benign
Transcript: ENSMUST00000124155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126026

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127645

Predicted Effect

probably benign
Transcript: ENSMUST00000135067

SMART Domains

Protein: ENSMUSP00000122882
Gene: ENSMUSG00000036002

Domain	Start	End	E-Value	Type
low complexity region	100	112	N/A	INTRINSIC
low complexity region	229	239	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135660

SMART Domains

Protein: ENSMUSP00000123478
Gene: ENSMUSG00000028455

Domain	Start	End	E-Value	Type
PHB	2	153	4.16e-39	SMART
coiled coil region	189	210	N/A	INTRINSIC
Pfam:Band_7_C	218	280	3.6e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136326

SMART Domains

Protein: ENSMUSP00000117586
Gene: ENSMUSG00000028455

Domain	Start	End	E-Value	Type
PHB	1	148	1.33e-37	SMART
coiled coil region	185	206	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138030

SMART Domains

Protein: ENSMUSP00000118465
Gene: ENSMUSG00000028455

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
PHB	42	200	1.47e-57	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143371

Predicted Effect

probably benign
Transcript: ENSMUST00000152846

SMART Domains

Protein: ENSMUSP00000118228
Gene: ENSMUSG00000036002

Domain	Start	End	E-Value	Type
low complexity region	100	112	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180854

Predicted Effect

probably benign
Transcript: ENSMUST00000144999

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	A	G	15: 81,980,738	D60G	probably damaging	Het
2310035C23Rik	T	A	1: 105,726,440	F845I	probably damaging	Het
4930539E08Rik	T	A	17: 28,904,611	D114V	probably damaging	Het
AF366264	G	A	8: 13,837,690	Q134*	probably null	Het
Atp2a1	G	T	7: 126,450,262	P536Q	probably benign	Het
Cabyr	T	A	18: 12,751,016	S187T	probably benign	Het
Camkk1	A	T	11: 73,033,870	N303I	probably benign	Het
Cdh13	C	T	8: 118,968,187	P259S	probably damaging	Het
Csnk1g3	A	G	18: 53,930,282	D255G	possibly damaging	Het
Dennd5b	A	C	6: 149,014,251		probably null	Het
Dnajc14	A	G	10: 128,814,631	D528G	probably benign	Het
Edem1	T	C	6: 108,854,357	F593S	probably benign	Het
Erbb2	G	A	11: 98,436,082	D1106N	possibly damaging	Het
Ermp1	T	C	19: 29,612,921	M794V	possibly damaging	Het
Fam208a	T	G	14: 27,429,258	Y64D	probably benign	Het
Fip1l1	T	A	5: 74,547,177		probably null	Het
Gm11639	A	G	11: 105,008,251	N4343S	probably null	Het
Gm20730	C	T	6: 43,081,542	C112Y	probably damaging	Het
Gtf2h1	T	A	7: 46,808,665	C245S	probably damaging	Het
Hdhd5	T	C	6: 120,523,554	H61R	probably benign	Het
Ighv1-71	A	T	12: 115,742,472	V31E	probably damaging	Het
Igsf9b	T	C	9: 27,329,555	F688S	probably damaging	Het
Iqcd	T	C	5: 120,602,378	V258A	probably damaging	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Lpo	G	T	11: 87,817,763	Y136*	probably null	Het
Med30	A	G	15: 52,730,383		probably benign	Het
Mertk	T	A	2: 128,776,421	V524D	probably benign	Het
Olfr1156	T	C	2: 87,949,976	I86V	probably benign	Het
Olfr1261	T	A	2: 89,994,173	F260Y	probably benign	Het
Olfr1263	T	C	2: 90,015,094	Y55H	probably damaging	Het
Pde6b	T	A	5: 108,421,501	M358K	possibly damaging	Het
Prep	GA	G	10: 45,158,314		probably null	Het
Prpf4b	G	A	13: 34,896,032	R793Q	probably damaging	Het
Rela	T	A	19: 5,647,338	N524K	probably damaging	Het
Rnaset2a	T	C	17: 8,141,648	D74G	probably damaging	Het
Serinc2	T	A	4: 130,258,271	I267F	probably damaging	Het
Sesn3	T	C	9: 14,321,253	F274S	possibly damaging	Het
Spag1	T	C	15: 36,195,407	Y249H	probably damaging	Het
Sstr1	A	T	12: 58,213,692	D367V	possibly damaging	Het
Tnnt1	T	C	7: 4,509,577	E110G	probably damaging	Het
Tpm1	T	A	9: 67,028,169		probably null	Het
Unc93b1	T	C	19: 3,944,105	V412A	probably benign	Het
Uox	G	C	3: 146,624,648		probably null	Het
Usp44	T	C	10: 93,846,008	Y107H	probably benign	Het

Other mutations in Fam214b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02268:Fam214b	APN	4	43036468	nonsense	probably null
IGL02810:Fam214b	APN	4	43034429	missense	probably damaging	1.00
BB010:Fam214b	UTSW	4	43035919	missense	probably benign
BB020:Fam214b	UTSW	4	43035919	missense	probably benign
PIT4431001:Fam214b	UTSW	4	43036024	missense	probably damaging	0.99
R0049:Fam214b	UTSW	4	43036441	missense	probably benign	0.30
R0049:Fam214b	UTSW	4	43036441	missense	probably benign	0.30
R0565:Fam214b	UTSW	4	43034647	unclassified	probably benign
R0627:Fam214b	UTSW	4	43036242	missense	probably damaging	1.00
R1121:Fam214b	UTSW	4	43034947	missense	probably damaging	1.00
R2395:Fam214b	UTSW	4	43035964	nonsense	probably null
R2853:Fam214b	UTSW	4	43036293	missense	probably benign
R3878:Fam214b	UTSW	4	43035867	missense	probably damaging	1.00
R4688:Fam214b	UTSW	4	43034663	missense	probably damaging	1.00
R6467:Fam214b	UTSW	4	43033687	missense	probably damaging	1.00
R7107:Fam214b	UTSW	4	43036434	missense	probably benign	0.10
R7608:Fam214b	UTSW	4	43036533	missense	probably damaging	0.99
R7933:Fam214b	UTSW	4	43035919	missense	probably benign
R7982:Fam214b	UTSW	4	43034483	missense	probably damaging	1.00
R8017:Fam214b	UTSW	4	43034413	missense	probably damaging	1.00
R8328:Fam214b	UTSW	4	43034751	missense	probably benign
R8715:Fam214b	UTSW	4	43033944	missense	possibly damaging	0.80
R8792:Fam214b	UTSW	4	43033546	missense	probably damaging	0.99
R8837:Fam214b	UTSW	4	43034531	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATCTCCATGCAGGCTTAAGC -3'
(R):5'- CCATCCAAGTGGTGAGTGAC -3'

Sequencing Primer
(F):5'- TGTGAGCACGTCAGCATC -3'
(R):5'- ATCAGTCAGTAGGCCCTAC -3'

Posted On

2018-06-06