Mutagenetix > Incidental Mutation

Incidental Mutation 'V7580:Fam221b'

69407

Institutional Source

Beutler Lab

Gene Symbol

Fam221b

Ensembl Gene

ENSMUSG00000043633

Gene Name

family with sequence similarity 221, member B

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

V7580 () of strain stinger

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43659622-43669145 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43665865 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 249 (T249A)

Ref Sequence

ENSEMBL: ENSMUSP00000057398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056474] [ENSMUST00000107864] [ENSMUST00000107865] [ENSMUST00000107866] [ENSMUST00000143339] [ENSMUST00000167153]

AlphaFold

Q8C627

Predicted Effect

probably benign
Transcript: ENSMUST00000056474
AA Change: T249A

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

SMART Domains

Protein: ENSMUSP00000057398
Gene: ENSMUSG00000043633
AA Change: T249A

Domain	Start	End	E-Value	Type
low complexity region	81	105	N/A	INTRINSIC
internal_repeat_1	119	164	1.12e-19	PROSPERO
internal_repeat_1	165	210	1.12e-19	PROSPERO
low complexity region	267	285	N/A	INTRINSIC
Pfam:DUF4475	312	482	1.7e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102482

Predicted Effect

probably benign
Transcript: ENSMUST00000107864

SMART Domains

Protein: ENSMUSP00000103496
Gene: ENSMUSG00000078716

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
EGF	185	221	1.95e1	SMART
Pfam:DUF3522	229	415	2.1e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107865

SMART Domains

Protein: ENSMUSP00000103497
Gene: ENSMUSG00000078716

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
EGF	185	221	1.95e1	SMART
Pfam:DUF3522	229	415	2.1e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107866

SMART Domains

Protein: ENSMUSP00000103498
Gene: ENSMUSG00000078716

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	45	71	N/A	INTRINSIC
low complexity region	87	102	N/A	INTRINSIC
low complexity region	115	137	N/A	INTRINSIC
low complexity region	427	443	N/A	INTRINSIC
EGF	606	642	1.95e1	SMART
Pfam:DUF3522	652	836	1.4e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134869

Predicted Effect

probably benign
Transcript: ENSMUST00000143339

SMART Domains

Protein: ENSMUSP00000130133
Gene: ENSMUSG00000078716

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143774

Predicted Effect

probably benign
Transcript: ENSMUST00000167153

SMART Domains

Protein: ENSMUSP00000129760
Gene: ENSMUSG00000078716

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
EGF	185	221	1.95e1	SMART
Pfam:DUF3522	229	415	2.1e-70	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,886,179	M950L	probably benign	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Casp8ap2	C	T	4: 32,639,944	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 17,820,528		probably null	Het
Cfi	T	A	3: 129,854,992	I175K	possibly damaging	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dnah12	T	A	14: 26,773,093	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 99,101,482	Y183N	probably damaging	Het
Erv3	T	C	2: 131,855,926	H171R	possibly damaging	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Gm4787	G	A	12: 81,377,567	Q606*	probably null	Het
Izumo4	A	T	10: 80,703,891	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Klc1	A	T	12: 111,774,572	I161F	probably benign	Het
Lpar5	C	A	6: 125,081,727	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,455,512	N3176T	possibly damaging	Het
Med20	G	A	17: 47,618,832	V65M	probably damaging	Het
Mylk	G	T	16: 34,995,204		probably null	Het
Numbl	T	C	7: 27,279,602	S379P	probably benign	Het
Olfr1406	G	T	1: 173,183,964	L157I	probably benign	Het
Olfr1440	G	A	19: 12,394,550	V96I	probably benign	Het
Otop3	T	A	11: 115,344,838	L432Q	probably damaging	Het
Papln	C	T	12: 83,778,834	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pigx	T	C	16: 32,087,422	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,654,618	T112A	probably benign	Het
Ppwd1	A	G	13: 104,220,237	Y257H	probably damaging	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Ror1	A	G	4: 100,440,933	Q501R	probably damaging	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Sptbn2	C	T	19: 4,750,632	R2292C	probably damaging	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060	V86A	probably benign	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	probably null	Het

Other mutations in Fam221b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Fam221b	APN	4	43660135	splice site	probably null
IGL01576:Fam221b	APN	4	43666227	missense	probably benign	0.21
IGL02126:Fam221b	APN	4	43666450	missense	probably benign	0.01
IGL02407:Fam221b	APN	4	43666309	missense	possibly damaging	0.73
IGL02425:Fam221b	APN	4	43660642	critical splice donor site	probably null
IGL03174:Fam221b	APN	4	43666542	missense	probably benign	0.00
F5770:Fam221b	UTSW	4	43665865	missense	probably benign
R1785:Fam221b	UTSW	4	43665537	missense	probably damaging	0.99
R1786:Fam221b	UTSW	4	43665537	missense	probably damaging	0.99
R1896:Fam221b	UTSW	4	43660375	missense	probably damaging	0.98
R4091:Fam221b	UTSW	4	43665987	missense	probably benign	0.01
R4695:Fam221b	UTSW	4	43659622	splice site	probably null
R5024:Fam221b	UTSW	4	43659674	missense	probably damaging	1.00
R5778:Fam221b	UTSW	4	43660683	missense	probably damaging	1.00
R6335:Fam221b	UTSW	4	43665942	missense	possibly damaging	0.89
R7994:Fam221b	UTSW	4	43665514	missense	probably damaging	0.97
R8144:Fam221b	UTSW	4	43665465	missense	probably damaging	1.00
R8144:Fam221b	UTSW	4	43665466	missense	probably benign	0.44
R8182:Fam221b	UTSW	4	43660342	missense	probably damaging	1.00
R8356:Fam221b	UTSW	4	43665519	missense	probably benign	0.05
R9753:Fam221b	UTSW	4	43665574	missense	probably benign	0.40
V7581:Fam221b	UTSW	4	43665865	missense	probably benign
V7582:Fam221b	UTSW	4	43665865	missense	probably benign
V7583:Fam221b	UTSW	4	43665865	missense	probably benign
Z1177:Fam221b	UTSW	4	43666039	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TCAGGGTTGAATCCTTCTCCCACTG -3'
(R):5'- ATCCCCAAGTATGAGAGTCCCGTC -3'

Sequencing Primer
(F):5'- CCACTGGAAAAGATTGTTCACCTG -3'
(R):5'- TATGAGAGTCCCGTCTCCGAAG -3'

Posted On

2013-09-04