Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Fam214b'

730513

Institutional Source

Beutler Lab

Gene Symbol

Fam214b

Ensembl Gene

ENSMUSG00000036002

Gene Name

family with sequence similarity 214, member B

Synonyms

B230312A22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43032414-43046220 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43036050 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 227 (H227R)

Ref Sequence

ENSEMBL: ENSMUSP00000038177 (fasta)

Gene Model

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

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: H227R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038177
Gene: ENSMUSG00000036002
AA Change: H227R

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: H227R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103590
Gene: ENSMUSG00000036002
AA Change: H227R

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: H227R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103591
Gene: ENSMUSG00000036002
AA Change: H227R

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: H227R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103592
Gene: ENSMUSG00000036002
AA Change: H227R

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: H227R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103593
Gene: ENSMUSG00000036002
AA Change: H227R

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

probably benign
Transcript: ENSMUST00000124155

Predicted Effect

probably damaging
Transcript: ENSMUST00000135067
AA Change: H227R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122882
Gene: ENSMUSG00000036002
AA Change: H227R

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: 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

probably benign
Transcript: ENSMUST00000144999

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,520,781	N2552I	probably damaging	Het
Amph	G	T	13: 19,125,083	A444S	probably benign	Het
Ankrd52	A	G	10: 128,380,588	N157S	probably benign	Het
Arhgap29	T	C	3: 122,004,271	F537L	probably benign	Het
Asic1	A	C	15: 99,692,776	T136P	probably damaging	Het
Atg2b	T	C	12: 105,639,302	Y1468C	probably benign	Het
Atm	A	G	9: 53,516,517	L431P	probably damaging	Het
Btaf1	A	G	19: 36,945,246	T17A	probably benign	Het
Car10	A	G	11: 93,304,541	N58S	probably benign	Het
Cd79b	A	T	11: 106,312,019	D252E	probably damaging	Het
Cdipt	C	T	7: 126,977,030		probably benign	Het
Cebpe	T	C	14: 54,711,708	D84G	probably damaging	Het
Cenpj	T	C	14: 56,552,996	E532G	probably benign	Het
Cherp	A	G	8: 72,463,076		probably null	Het
Chuk	T	C	19: 44,082,670	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,397,640	T9I	probably benign	Het
Clspn	G	T	4: 126,564,963	A280S	possibly damaging	Het
Cts3	T	G	13: 61,564,985	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,568,049	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,275,018	R386H	probably damaging	Het
Dhx58	A	T	11: 100,701,307	M305K	probably benign	Het
Dlgap3	T	C	4: 127,235,494	L894P	probably damaging	Het
Dnah3	A	T	7: 119,975,076	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,902,283	N183S	probably benign	Het
Drd5	G	T	5: 38,320,747	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,305,141	E159G	probably damaging	Het
Exoc1	T	A	5: 76,563,232	S659R	probably benign	Het
Fbln7	T	C	2: 128,877,394	I37T	probably benign	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,763,694	S304T	probably damaging	Het
Gbp9	C	A	5: 105,105,721	G43*	probably null	Het
Gm21671	T	C	5: 25,949,831	E257G	probably damaging	Het
Gucy2d	A	G	7: 98,474,661	K151R	probably benign	Het
Heatr4	T	A	12: 83,978,055	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,609,627	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,982,119	T156M	probably benign	Het
Hrnr	A	T	3: 93,320,680	E35V	probably damaging	Het
Idua	C	T	5: 108,670,171	Q70*	probably null	Het
Klf5	A	T	14: 99,301,753	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,234,010	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,268,383	D1721E		Het
Mdh1	T	A	11: 21,571,870		probably benign	Het
Mllt11	T	C	3: 95,220,210	H83R	probably benign	Het
Mrgprb4	A	C	7: 48,198,835	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,132,470	F319S	probably damaging	Het
Naif1	A	T	2: 32,454,895	M204L	probably benign	Het
Ncan	T	A	8: 70,101,978	D1063V	probably damaging	Het
Noto	A	T	6: 85,424,345	R119W	possibly damaging	Het
Olfr1220	G	A	2: 89,097,229	L233F	probably benign	Het
Olfr147	A	T	9: 38,403,545	I224F	probably damaging	Het
Olfr573-ps1	A	T	7: 102,941,958	D206E	probably damaging	Het
Olfr816	T	A	10: 129,912,179	Y33F	probably damaging	Het
Ovch2	A	G	7: 107,794,377	W181R	probably damaging	Het
Palm	G	C	10: 79,819,283	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,072,715	L591*	probably null	Het
Pik3c2g	T	C	6: 139,896,184	S772P		Het
Prx	C	A	7: 27,517,986	D776E	probably benign	Het
Ptpra	A	G	2: 130,542,446	E562G	possibly damaging	Het
Rbm4b	A	G	19: 4,757,331	Y25C	probably damaging	Het
Reln	T	C	5: 21,931,429	T2534A	probably benign	Het
Rnf123	T	C	9: 108,077,764	S14G	probably benign	Het
Rock2	A	G	12: 16,965,601	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,025	V87A	possibly damaging	Het
S100b	G	A	10: 76,257,102	G23D	probably damaging	Het
Scn9a	T	A	2: 66,526,658	M1100L	probably benign	Het
Sept11	T	A	5: 93,148,407	S55T	possibly damaging	Het
Sv2b	T	A	7: 75,119,928	Q622L	probably benign	Het
Taar7a	T	C	10: 23,992,901	D194G	probably benign	Het
Trappc3	T	C	4: 126,275,221	I168T	probably benign	Het
Trim27	T	C	13: 21,190,126		probably null	Het
Wdr49	G	A	3: 75,397,052	T109I	probably benign	Het
Wdr64	T	C	1: 175,717,288	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,009,592	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,374,848	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,662,908	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,682,137	A289T	probably benign	Het
Zscan5b	T	C	7: 6,231,526	S184P	possibly damaging	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
R6556:Fam214b	UTSW	4	43033896	missense	probably damaging	0.96
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
R9530:Fam214b	UTSW	4	43034753	missense	probably damaging	0.99
R9726:Fam214b	UTSW	4	43034991	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGGCTTTGGCATCAGAAC -3'
(R):5'- CACCCTGGCTCTCATCAAATGC -3'

Sequencing Primer
(F):5'- CTTTGGCATCAGAACTATTGGCAGC -3'
(R):5'- TACTTTGCACACCAGAGACTG -3'

Posted On

2022-10-06