Mutagenetix > Incidental Mutation

Incidental Mutation 'BB020:Fam214b'

643110

Institutional Source

Beutler Lab

Gene Symbol

Fam214b

Ensembl Gene

ENSMUSG00000036002

Gene Name

family with sequence similarity 214, member B

Synonyms

B230312A22Rik

Accession Numbers

Essential gene?

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

Stock #

BB020

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43032414-43046220 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43035919 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 271 (C271S)

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 benign
Transcript: ENSMUST00000036462
AA Change: C271S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038177
Gene: ENSMUSG00000036002
AA Change: C271S

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 benign
Transcript: ENSMUST00000107956
AA Change: C271S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103590
Gene: ENSMUSG00000036002
AA Change: C271S

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 benign
Transcript: ENSMUST00000107957
AA Change: C271S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103591
Gene: ENSMUSG00000036002
AA Change: C271S

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 benign
Transcript: ENSMUST00000107958
AA Change: C271S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103592
Gene: ENSMUSG00000036002
AA Change: C271S

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 benign
Transcript: ENSMUST00000107959
AA Change: C271S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103593
Gene: ENSMUSG00000036002
AA Change: C271S

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 benign
Transcript: ENSMUST00000135067
AA Change: C271S

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000122882
Gene: ENSMUSG00000036002
AA Change: C271S

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,751	L85P	probably damaging	Het
4933414I15Rik	A	G	11: 50,942,400	V125A	unknown	Het
Adam34	T	A	8: 43,650,874	H578L	probably damaging	Het
Ago4	A	T	4: 126,507,018	M678K	probably benign	Het
Atrn	T	C	2: 130,995,066	L1150P	probably damaging	Het
Camta1	C	T	4: 151,083,757	E279K	probably damaging	Het
Ccdc88c	T	C	12: 100,945,490	D695G	possibly damaging	Het
Col11a2	A	T	17: 34,056,055	K400*	probably null	Het
Cpsf4	T	A	5: 145,167,358	M1K	probably null	Het
Dnah12	A	T	14: 26,766,115	Q992L	probably benign	Het
Dnajc7	T	C	11: 100,596,212	Y145C	probably damaging	Het
Eml5	A	T	12: 98,844,020	D892E	possibly damaging	Het
Fam193a	A	G	5: 34,466,195	K23E	possibly damaging	Het
Filip1	T	G	9: 79,820,047	K430T	possibly damaging	Het
Gm5089	T	C	14: 122,435,991	D106G	unknown	Het
Hip1	A	T	5: 135,460,456	N45K	probably damaging	Het
Hivep2	T	C	10: 14,127,837	S60P	probably damaging	Het
Ighv1-53	A	T	12: 115,158,409	C115*	probably null	Het
Macf1	T	C	4: 123,409,651	T353A	probably benign	Het
Mast3	A	T	8: 70,786,635	V433E	probably damaging	Het
Mast4	A	T	13: 102,772,563	M660K	probably damaging	Het
Nr2e1	T	C	10: 42,563,383	Y380C	probably damaging	Het
Olfr1465	T	A	19: 13,314,205	M27L	probably benign	Het
Otog	A	G	7: 46,310,147	D720G	probably damaging	Het
Slc6a1	T	A	6: 114,311,898	W473R	probably damaging	Het
Smpd3	A	C	8: 106,255,622	C617G	probably benign	Het
Sprr3	T	C	3: 92,457,208	I110V	possibly damaging	Het
Ston1	A	G	17: 88,636,144	E326G	probably benign	Het
Tapbpl	T	G	6: 125,230,270	Q152P	probably damaging	Het
Tectb	C	T	19: 55,194,673	L319F	possibly damaging	Het
Tpp2	G	A	1: 43,960,961	G413D	probably damaging	Het
Tpsg1	A	G	17: 25,373,204	H84R	probably damaging	Het
Usp24	A	G	4: 106,428,489	N2437S	probably benign	Het
Usp32	T	C	11: 85,007,059	Q1152R	probably damaging	Het
Vmn2r6	T	C	3: 64,559,803	T92A	probably benign	Het
Xpo7	A	G	14: 70,707,348	V35A	probably benign	Het
Zan	T	A	5: 137,463,579	T1113S	unknown	Het
Zfp169	A	G	13: 48,490,481	V390A	unknown	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
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
R9717:Fam214b	UTSW	4	43036050	missense	probably damaging	0.99
R9726:Fam214b	UTSW	4	43034991	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCCTTCGAACTCTCCGGAAG -3'
(R):5'- GCACAATCTTGCACAAATAGGGG -3'

Sequencing Primer
(F):5'- TTGCCTGGGATACATAAGACC -3'
(R):5'- TCTTGCACAAATAGGGGGTAAG -3'

Posted On

2020-08-01