Mutagenetix > Incidental Mutation

Incidental Mutation 'R5190:Fam216a'

398042

Institutional Source

Beutler Lab

Gene Symbol

Fam216a

Ensembl Gene

ENSMUSG00000029463

Gene Name

family with sequence similarity 216, member A

Synonyms

1500011H22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5190 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122502647-122510405 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 122505584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031419] [ENSMUST00000031419] [ENSMUST00000031419] [ENSMUST00000031420] [ENSMUST00000111729] [ENSMUST00000118765] [ENSMUST00000118830] [ENSMUST00000127608] [ENSMUST00000155671]

AlphaFold

Q9DB54

Predicted Effect

probably null
Transcript: ENSMUST00000031419

SMART Domains

Protein: ENSMUSP00000031419
Gene: ENSMUSG00000029463

Domain	Start	End	E-Value	Type
Pfam:FAM216B	50	160	6e-49	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000031419

SMART Domains

Protein: ENSMUSP00000031419
Gene: ENSMUSG00000029463

Domain	Start	End	E-Value	Type
Pfam:FAM216B	50	160	6e-49	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000031419

SMART Domains

Protein: ENSMUSP00000031419
Gene: ENSMUSG00000029463

Domain	Start	End	E-Value	Type
Pfam:FAM216B	50	160	6e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031420

SMART Domains

Protein: ENSMUSP00000031420
Gene: ENSMUSG00000029464

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	8	254	5.5e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111729

SMART Domains

Protein: ENSMUSP00000107358
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118765

SMART Domains

Protein: ENSMUSP00000112579
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
PDB:1W24\|A	1	65	7e-42	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000118830

SMART Domains

Protein: ENSMUSP00000113525
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
Pfam:Metallophos_2	6	162	1.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127608

SMART Domains

Protein: ENSMUSP00000143405
Gene: ENSMUSG00000029464

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	8	189	1.2e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155671

SMART Domains

Protein: ENSMUSP00000121020
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
Pfam:Metallophos_2	1	158	3.4e-24	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abca7	T	C	10: 79,835,427 (GRCm39)		probably null	Het
Abca8a	C	T	11: 109,980,735 (GRCm39)		probably null	Het
Ablim3	A	G	18: 61,952,982 (GRCm39)	Y361H	probably benign	Het
Acan	C	T	7: 78,748,289 (GRCm39)	T1020I	probably benign	Het
Baat	A	G	4: 49,499,652 (GRCm39)	L218P	probably damaging	Het
Bcl11b	C	A	12: 107,955,975 (GRCm39)	C58F	probably damaging	Het
Cand2	G	T	6: 115,766,474 (GRCm39)	A360S	probably damaging	Het
Cdh2	A	G	18: 16,783,372 (GRCm39)	V62A	possibly damaging	Het
Cep44	C	T	8: 56,985,831 (GRCm39)	V354I	probably benign	Het
Col3a1	G	A	1: 45,368,244 (GRCm39)	R309Q	unknown	Het
Col3a1	G	A	1: 45,383,967 (GRCm39)		probably benign	Het
Coq5	A	G	5: 115,433,839 (GRCm39)		probably null	Het
Crtac1	A	G	19: 42,322,347 (GRCm39)	I131T	possibly damaging	Het
Decr1	C	T	4: 15,924,270 (GRCm39)	V217M	probably damaging	Het
Dnajc13	A	G	9: 104,051,724 (GRCm39)	V1706A	probably benign	Het
Dop1a	A	G	9: 86,369,357 (GRCm39)	I63M	probably damaging	Het
F830045P16Rik	T	C	2: 129,314,635 (GRCm39)	D214G	probably benign	Het
Fdxacb1	A	C	9: 50,683,387 (GRCm39)	H248P	possibly damaging	Het
Gnai1	A	T	5: 18,496,596 (GRCm39)	V109E	probably benign	Het
Helz2	A	T	2: 180,872,550 (GRCm39)		probably null	Het
Itgam	T	C	7: 127,715,489 (GRCm39)		probably null	Het
Kcnh1	A	G	1: 192,187,836 (GRCm39)	S766G	probably benign	Het
Klra1	C	A	6: 130,352,241 (GRCm39)	C167F	probably damaging	Het
Krtap9-3	T	A	11: 99,488,808 (GRCm39)	T25S	probably benign	Het
Mapk6	T	C	9: 75,295,626 (GRCm39)	Y624C	probably damaging	Het
Or10ag2	A	G	2: 87,249,187 (GRCm39)	Y263C	probably damaging	Het
Or1ad8	T	G	11: 50,898,381 (GRCm39)	I194S	probably damaging	Het
Or2y1g	T	C	11: 49,171,209 (GRCm39)	V78A	probably damaging	Het
Or52e4	C	T	7: 104,705,660 (GRCm39)	S69L	probably damaging	Het
Or9m2	T	A	2: 87,821,107 (GRCm39)	Y217*	probably null	Het
P3h2	A	G	16: 25,803,699 (GRCm39)	S356P	possibly damaging	Het
Pde12	C	T	14: 26,387,532 (GRCm39)		probably null	Het
Rln3	T	G	8: 84,769,866 (GRCm39)	K94N	probably damaging	Het
Skint5	T	C	4: 113,620,711 (GRCm39)	I668V	unknown	Het
Slitrk5	C	A	14: 111,916,852 (GRCm39)	Q159K	probably damaging	Het
Trim3	G	T	7: 105,268,716 (GRCm39)	N79K	probably damaging	Het
Tyw1	T	A	5: 130,296,756 (GRCm39)	C101*	probably null	Het
Ulk2	T	C	11: 61,672,537 (GRCm39)	T934A	probably benign	Het
Unc5b	T	C	10: 60,608,072 (GRCm39)	Y687C	probably benign	Het
Vmn1r195	C	T	13: 22,462,556 (GRCm39)	R9*	probably null	Het
Zfc3h1	T	G	10: 115,254,597 (GRCm39)	L1397R	probably damaging	Het
Zfp296	T	C	7: 19,311,332 (GRCm39)	V9A	probably benign	Het
Zfp423	T	A	8: 88,509,091 (GRCm39)	S397C	probably damaging	Het

Other mutations in Fam216a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01881:Fam216a	APN	5	122,505,698 (GRCm39)	missense	probably damaging	1.00
IGL02389:Fam216a	APN	5	122,505,574 (GRCm39)	missense	probably damaging	0.99
R0487:Fam216a	UTSW	5	122,508,576 (GRCm39)	critical splice donor site	probably null
R0690:Fam216a	UTSW	5	122,505,709 (GRCm39)	missense	probably damaging	1.00
R7084:Fam216a	UTSW	5	122,507,623 (GRCm39)	missense	probably benign	0.31
R7651:Fam216a	UTSW	5	122,505,445 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAGACAGACCCTTCTTTGTG -3'
(R):5'- TCTTTCAGCATCCAGAGCTC -3'

Sequencing Primer
(F):5'- TGTCTCAGGGGTCGCCAAAG -3'
(R):5'- CAGAAGCGTTACCTGTGCAG -3'

Posted On

2016-07-06