Mutagenetix > Incidental Mutation

Incidental Mutation 'R9753:Fam221b'

732624

Institutional Source

Beutler Lab

Gene Symbol

Fam221b

Ensembl Gene

ENSMUSG00000043633

Gene Name

family with sequence similarity 221, member B

Synonyms

4930412F15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R9753 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43659622-43668859 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43665574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 295 (K295E)

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: K295E

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000057398
Gene: ENSMUSG00000043633
AA Change: K295E

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

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

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

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	G	A	10: 41,259,496 (GRCm39)	V843I		Het
Bbs12	T	C	3: 37,373,680 (GRCm39)	C43R	possibly damaging	Het
Brwd1	T	C	16: 95,825,028 (GRCm39)	E1145G	probably damaging	Het
C2cd4c	A	C	10: 79,448,067 (GRCm39)	I360S	probably damaging	Het
Carmil2	A	G	8: 106,417,539 (GRCm39)	N599S	probably damaging	Het
Cd79b	A	G	11: 106,203,457 (GRCm39)		probably null	Het
Ces2c	A	G	8: 105,580,249 (GRCm39)	M489V	probably benign	Het
Clip4	A	G	17: 72,106,068 (GRCm39)	N84D	probably benign	Het
Cramp1	T	C	17: 25,191,320 (GRCm39)	D1047G	possibly damaging	Het
Cyp2c69	C	T	19: 39,865,991 (GRCm39)	V201M	probably benign	Het
Dock2	A	G	11: 34,223,673 (GRCm39)	S1154P	possibly damaging	Het
Elk4	T	G	1: 131,945,881 (GRCm39)	V253G	probably benign	Het
Erbb4	T	A	1: 68,238,062 (GRCm39)	H809L	probably benign	Het
Ext1	A	T	15: 53,208,067 (GRCm39)	D231E	probably damaging	Het
Fbrsl1	A	G	5: 110,526,835 (GRCm39)	F2L	unknown	Het
Fnip2	C	T	3: 79,415,411 (GRCm39)	R209H	probably benign	Het
Gart	C	T	16: 91,430,949 (GRCm39)	G371D	probably damaging	Het
Gata6	T	A	18: 11,064,706 (GRCm39)	V506D	possibly damaging	Het
Gba2	T	C	4: 43,568,716 (GRCm39)	Y620C	probably damaging	Het
Gprc6a	T	C	10: 51,504,364 (GRCm39)	N160S	probably benign	Het
Gstm3	A	G	3: 107,875,493 (GRCm39)	W46R	probably damaging	Het
Hcn4	G	A	9: 58,751,319 (GRCm39)	R315H	unknown	Het
Hydin	T	C	8: 111,217,398 (GRCm39)	F1429L	possibly damaging	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Itgb1bp1	A	G	12: 21,326,890 (GRCm39)	S28P	unknown	Het
Krt10	A	G	11: 99,279,792 (GRCm39)	F123L	unknown	Het
Krt79	T	G	15: 101,839,196 (GRCm39)	E424D	probably benign	Het
Lingo4	C	T	3: 94,309,493 (GRCm39)	R144*	probably null	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Nrsn1	C	A	13: 25,437,563 (GRCm39)	V122L	probably benign	Het
Or10h5	C	A	17: 33,434,688 (GRCm39)	G210V	possibly damaging	Het
Or2r2	T	C	6: 42,463,507 (GRCm39)	M207V	probably benign	Het
Or4d6	T	A	19: 12,086,056 (GRCm39)	M59L	probably benign	Het
Pcgf6	T	C	19: 47,023,073 (GRCm39)	T353A	probably damaging	Het
Pcsk2	T	C	2: 143,635,150 (GRCm39)	Y342H	probably damaging	Het
Pou2af1	A	T	9: 51,149,636 (GRCm39)	N243Y	possibly damaging	Het
Prkcz	T	C	4: 155,377,659 (GRCm39)	D197G	probably benign	Het
Sec14l4	G	A	11: 3,989,982 (GRCm39)	E94K	probably benign	Het
Sik2	T	C	9: 50,807,139 (GRCm39)	E757G	probably damaging	Het
Sipa1l1	T	A	12: 82,463,763 (GRCm39)	S1154T	possibly damaging	Het
Speer1k	A	T	5: 10,999,020 (GRCm39)	T53S		Het
Ssb	T	C	2: 69,697,865 (GRCm39)	Y175H	probably damaging	Het
St6galnac6	T	C	2: 32,502,261 (GRCm39)	I50T	probably benign	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Tmcc1	G	C	6: 115,999,071 (GRCm39)	R323G	possibly damaging	Het
Unc13b	C	T	4: 43,182,842 (GRCm39)	R396*	probably null	Het
Vezt	A	G	10: 93,806,183 (GRCm39)	S743P	probably benign	Het
Vmn1r77	A	C	7: 11,775,659 (GRCm39)	N145T	probably damaging	Het
Vmn2r98	A	C	17: 19,285,665 (GRCm39)	T162P	probably benign	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
IGL02126:Fam221b	APN	4	43,666,450 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- TGGCCATTCCTATATTGAAGAGGC -3'
(R):5'- TGGTGGTAACTGTCCCTACC -3'

Sequencing Primer
(F):5'- CCTATATTGAAGAGGCAGGTTCCC -3'
(R):5'- GGTGGTAACTGTCCCTACCTTTCC -3'

Posted On

2022-11-14