Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02126:Fam221b'

280857

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam221b

Ensembl Gene

ENSMUSG00000043633

Gene Name

family with sequence similarity 221, member B

Synonyms

4930412F15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL02126

Quality Score

Status

Chromosome

Chromosomal Location

43659622-43668859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43666450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 54 (I54F)

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: I54F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000057398
Gene: ENSMUSG00000043633
AA Change: I54F

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

noncoding transcript
Transcript: ENSMUST00000143774

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

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Angptl3	T	C	4: 98,919,738 (GRCm39)		probably null	Het
Atoh1	T	C	6: 64,706,334 (GRCm39)	W10R	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Ccm2	A	G	11: 6,544,154 (GRCm39)	T317A	probably damaging	Het
Ccnt1	A	T	15: 98,465,484 (GRCm39)	W12R	probably damaging	Het
Celf1	T	A	2: 90,831,408 (GRCm39)	L79H	probably damaging	Het
Cmip	T	C	8: 118,175,770 (GRCm39)	V423A	probably damaging	Het
Ddr1	T	A	17: 35,999,481 (GRCm39)	I431F	probably damaging	Het
Dnah6	A	G	6: 73,080,149 (GRCm39)	L2343P	probably benign	Het
Duox1	A	G	2: 122,176,817 (GRCm39)	D1446G	probably benign	Het
Erich3	A	G	3: 154,419,599 (GRCm39)	H231R	possibly damaging	Het
Fcgbpl1	G	A	7: 27,839,281 (GRCm39)	V365M	probably damaging	Het
Galntl5	T	C	5: 25,394,839 (GRCm39)	F69L	possibly damaging	Het
Gba2	T	G	4: 43,567,918 (GRCm39)		probably null	Het
Gbf1	C	A	19: 46,240,556 (GRCm39)	P46Q	probably damaging	Het
Gimap6	T	G	6: 48,679,635 (GRCm39)	S134R	probably damaging	Het
Gm5424	A	C	10: 61,907,377 (GRCm39)		noncoding transcript	Het
Hexb	T	C	13: 97,314,532 (GRCm39)	K404E	possibly damaging	Het
Hs3st3a1	G	A	11: 64,327,331 (GRCm39)	V147M	probably damaging	Het
Hsd17b4	T	C	18: 50,315,063 (GRCm39)	V610A	probably benign	Het
Loxl3	T	A	6: 83,025,628 (GRCm39)	W329R	probably damaging	Het
Lrrc52	A	G	1: 167,273,575 (GRCm39)	F247S	probably damaging	Het
Naa38	C	T	11: 69,287,045 (GRCm39)	R42W	probably damaging	Het
Nadsyn1	G	A	7: 143,357,753 (GRCm39)	Q485*	probably null	Het
Nid1	A	G	13: 13,663,743 (GRCm39)		probably null	Het
Ofcc1	T	C	13: 40,362,251 (GRCm39)	T224A	probably benign	Het
Or5m11b	T	G	2: 85,806,517 (GRCm39)	I310S	probably benign	Het
Palld	A	G	8: 62,330,476 (GRCm39)	Y134H	possibly damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pfn3	T	C	13: 55,562,699 (GRCm39)	D94G	possibly damaging	Het
Pkhd1	G	A	1: 20,187,419 (GRCm39)	R3630C	probably damaging	Het
Por	T	A	5: 135,744,829 (GRCm39)	F31I	probably benign	Het
Ppp1r12c	T	C	7: 4,492,858 (GRCm39)	E127G	probably benign	Het
Ppp1r9a	T	A	6: 5,156,229 (GRCm39)	S1162T	probably damaging	Het
Psen2	C	A	1: 180,057,488 (GRCm39)	A297S	probably benign	Het
Rpusd2	G	A	2: 118,869,119 (GRCm39)	R514Q	probably damaging	Het
Rxrg	A	G	1: 167,462,029 (GRCm39)	M235V	probably damaging	Het
Sash1	T	C	10: 8,615,229 (GRCm39)	M644V	probably damaging	Het
Sf3b3	T	C	8: 111,550,075 (GRCm39)	T648A	probably benign	Het
Slco1a7	T	A	6: 141,684,739 (GRCm39)	T239S	probably benign	Het
Ssu72	T	C	4: 155,816,483 (GRCm39)	I155T	probably benign	Het
Tas2r102	A	G	6: 132,739,607 (GRCm39)	R172G	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Trav12-2	C	A	14: 53,853,859 (GRCm39)	N2K	probably damaging	Het
Tyrp1	C	T	4: 80,755,845 (GRCm39)	Q205*	probably null	Het
Ubr4	T	A	4: 139,180,052 (GRCm39)		probably null	Het
Ush2a	A	G	1: 187,995,588 (GRCm39)	S120G	probably benign	Het
Vmn2r100	T	C	17: 19,741,504 (GRCm39)		probably benign	Het
Zer1	G	T	2: 29,994,928 (GRCm39)	T489K	probably benign	Het
Zfp955b	G	T	17: 33,521,238 (GRCm39)	G236*	probably null	Het

Other mutations in Fam221b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Fam221b	APN	4	43,660,135 (GRCm39)	splice site	probably null
IGL01576:Fam221b	APN	4	43,666,227 (GRCm39)	missense	probably benign	0.21
IGL02407:Fam221b	APN	4	43,666,309 (GRCm39)	missense	possibly damaging	0.73
IGL02425:Fam221b	APN	4	43,660,642 (GRCm39)	critical splice donor site	probably null
IGL03174:Fam221b	APN	4	43,666,542 (GRCm39)	missense	probably benign	0.00
F5770:Fam221b	UTSW	4	43,665,865 (GRCm39)	missense	probably benign
R1785:Fam221b	UTSW	4	43,665,537 (GRCm39)	missense	probably damaging	0.99
R1786:Fam221b	UTSW	4	43,665,537 (GRCm39)	missense	probably damaging	0.99
R1896:Fam221b	UTSW	4	43,660,375 (GRCm39)	missense	probably damaging	0.98
R4091:Fam221b	UTSW	4	43,665,987 (GRCm39)	missense	probably benign	0.01
R4695:Fam221b	UTSW	4	43,659,622 (GRCm39)	splice site	probably null
R5024:Fam221b	UTSW	4	43,659,674 (GRCm39)	missense	probably damaging	1.00
R5778:Fam221b	UTSW	4	43,660,683 (GRCm39)	missense	probably damaging	1.00
R6335:Fam221b	UTSW	4	43,665,942 (GRCm39)	missense	possibly damaging	0.89
R7994:Fam221b	UTSW	4	43,665,514 (GRCm39)	missense	probably damaging	0.97
R8144:Fam221b	UTSW	4	43,665,466 (GRCm39)	missense	probably benign	0.44
R8144:Fam221b	UTSW	4	43,665,465 (GRCm39)	missense	probably damaging	1.00
R8182:Fam221b	UTSW	4	43,660,342 (GRCm39)	missense	probably damaging	1.00
R8356:Fam221b	UTSW	4	43,665,519 (GRCm39)	missense	probably benign	0.05
R9753:Fam221b	UTSW	4	43,665,574 (GRCm39)	missense	probably benign	0.40
V7580:Fam221b	UTSW	4	43,665,865 (GRCm39)	missense	probably benign
V7581:Fam221b	UTSW	4	43,665,865 (GRCm39)	missense	probably benign
V7582:Fam221b	UTSW	4	43,665,865 (GRCm39)	missense	probably benign
V7583:Fam221b	UTSW	4	43,665,865 (GRCm39)	missense	probably benign
Z1177:Fam221b	UTSW	4	43,666,039 (GRCm39)	missense	probably benign	0.17

Posted On

2015-04-16