Mutagenetix > Incidental Mutation

Incidental Mutation 'R0087:Fam222b'

19970

Institutional Source

Beutler Lab

Gene Symbol

Fam222b

Ensembl Gene

ENSMUSG00000037750

Gene Name

family with sequence similarity 222, member B

Synonyms

BC017647

MMRRC Submission

038374-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.314) question?

Stock #

R0087 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

77985486-78047526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78044718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 93 (T93N)

Ref Sequence

ENSEMBL: ENSMUSP00000121832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073705] [ENSMUST00000100782] [ENSMUST00000155571]

AlphaFold

Q6P539

Predicted Effect

probably benign
Transcript: ENSMUST00000073705
AA Change: T93N

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073384
Gene: ENSMUSG00000037750
AA Change: T93N

Domain	Start	End	E-Value	Type
Pfam:FAM222A	27	562	5.6e-233	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100782

SMART Domains

Protein: ENSMUSP00000126620
Gene: ENSMUSG00000037750

Domain	Start	End	E-Value	Type
Pfam:FAM222A	1	434	1.9e-157	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149437

Predicted Effect

probably benign
Transcript: ENSMUST00000155571
AA Change: T93N

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121832
Gene: ENSMUSG00000037750
AA Change: T93N

Domain	Start	End	E-Value	Type
Pfam:FAM222A	27	562	3.2e-259	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.5%
20x: 82.3%

Validation Efficiency

86% (59/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	A	19: 53,215,038 (GRCm39)	L71Q	probably damaging	Het
Adgrv1	T	A	13: 81,535,070 (GRCm39)	I5732F	probably damaging	Het
Adss2	A	T	1: 177,598,788 (GRCm39)	V330E	probably benign	Het
Agps	T	A	2: 75,739,979 (GRCm39)	Y488N	probably damaging	Het
Ap3s1	A	T	18: 46,891,106 (GRCm39)	R66S	probably damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atp2a2	C	T	5: 122,599,024 (GRCm39)	V593I	probably benign	Het
Chrna6	C	T	8: 27,897,014 (GRCm39)	V288M	probably damaging	Het
Col4a2	C	T	8: 11,491,296 (GRCm39)	L1232F	probably benign	Het
Dcaf1	A	G	9: 106,740,288 (GRCm39)	N1225D	probably damaging	Het
Degs1	A	G	1: 182,106,875 (GRCm39)	I128T	probably benign	Het
Dnaaf11	T	C	15: 66,341,824 (GRCm39)	T91A	probably benign	Het
Dnah5	A	T	15: 28,350,759 (GRCm39)	T2594S	probably damaging	Het
Dnah8	G	T	17: 30,974,093 (GRCm39)	R2826L	probably damaging	Het
Elf3	A	G	1: 135,184,875 (GRCm39)	Y104H	probably damaging	Het
Fbxw26	A	G	9: 109,554,006 (GRCm39)	I211T	probably benign	Het
Fcho2	T	C	13: 98,871,594 (GRCm39)	T541A	probably benign	Het
Flg2	T	C	3: 93,109,738 (GRCm39)	S589P	unknown	Het
Foxj3	T	A	4: 119,483,597 (GRCm39)	V589E	unknown	Het
Gria1	A	G	11: 57,208,538 (GRCm39)	Y742C	probably damaging	Het
Inpp5d	T	C	1: 87,642,860 (GRCm39)	S672P	probably damaging	Het
Lrrc19	A	C	4: 94,529,009 (GRCm39)	F91C	probably damaging	Het
Mppe1	A	G	18: 67,358,775 (GRCm39)	*398R	probably null	Het
Mroh3	T	C	1: 136,118,541 (GRCm39)	I561V	probably benign	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Nbea	G	T	3: 55,998,444 (GRCm39)	T121K	possibly damaging	Het
Nbr1	A	C	11: 101,455,519 (GRCm39)	D91A	probably benign	Het
Ncam2	C	A	16: 81,231,789 (GRCm39)	N84K	probably benign	Het
Or4c35	T	C	2: 89,808,475 (GRCm39)	Y118H	probably damaging	Het
Or51ac3	A	T	7: 103,213,569 (GRCm39)	C306S	probably benign	Het
Or52h9	A	G	7: 104,202,869 (GRCm39)	I248V	possibly damaging	Het
Or52z13	A	G	7: 103,246,928 (GRCm39)	Y135C	probably benign	Het
Or6b6	A	G	7: 106,571,323 (GRCm39)	V76A	probably benign	Het
Pdgfrb	A	T	18: 61,194,585 (GRCm39)	I121F	probably damaging	Het
Peak1	A	T	9: 56,165,609 (GRCm39)	I773N	probably damaging	Het
Pfkfb4	G	T	9: 108,836,769 (GRCm39)	V155F	probably damaging	Het
Pkm	C	T	9: 59,585,382 (GRCm39)	R455*	probably null	Het
Plbd2	C	A	5: 120,632,550 (GRCm39)	E151*	probably null	Het
Pld5	G	A	1: 175,812,025 (GRCm39)	T353M	probably damaging	Het
Psme2b	A	T	11: 48,836,544 (GRCm39)	D134E	possibly damaging	Het
Rida	T	A	15: 34,488,772 (GRCm39)	D40V	possibly damaging	Het
Rnf126	A	T	10: 79,595,068 (GRCm39)	H265Q	probably damaging	Het
Rock2	C	A	12: 16,978,967 (GRCm39)	Q86K	probably benign	Het
Serpinb1b	A	T	13: 33,269,302 (GRCm39)	T12S	probably benign	Het
Slco6c1	T	A	1: 97,046,303 (GRCm39)	Q277L	probably benign	Het
Spmap2	A	T	10: 79,421,785 (GRCm39)	Y144*	probably null	Het
Sptlc2	T	A	12: 87,415,892 (GRCm39)	H45L	probably benign	Het
Srsf4	A	G	4: 131,627,641 (GRCm39)		probably benign	Het
Sspo	A	G	6: 48,454,719 (GRCm39)	S2969G	probably damaging	Het
Steap1	C	T	5: 5,786,664 (GRCm39)	G258R	probably damaging	Het
Stk19	A	T	17: 35,055,851 (GRCm39)	M1K	probably null	Het
Stk-ps2	C	A	1: 46,069,049 (GRCm39)		noncoding transcript	Het
Taf1c	C	T	8: 120,327,726 (GRCm39)	R332H	probably damaging	Het
Thbs4	T	A	13: 92,891,743 (GRCm39)	T791S	probably damaging	Het
Tjap1	A	G	17: 46,574,652 (GRCm39)	L21P	probably damaging	Het
Tmem145	A	G	7: 25,007,268 (GRCm39)	Y148C	probably damaging	Het
Tmem267	T	A	13: 120,070,810 (GRCm39)	V155E	probably benign	Het
Tns1	T	A	1: 73,956,076 (GRCm39)	H549L	possibly damaging	Het
Tyro3	T	G	2: 119,632,182 (GRCm39)	I83S	probably benign	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Vmn1r53	A	T	6: 90,200,413 (GRCm39)	C304S	probably benign	Het
Vwf	G	A	6: 125,622,917 (GRCm39)	M1761I	probably benign	Het
Zfp276	T	C	8: 123,991,786 (GRCm39)	Y445H	probably damaging	Het
Zfp407	A	T	18: 84,578,536 (GRCm39)	I859N	probably damaging	Het

Other mutations in Fam222b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01073:Fam222b	APN	11	78,045,314 (GRCm39)	missense	probably damaging	0.96
IGL01948:Fam222b	APN	11	78,045,165 (GRCm39)	missense	probably damaging	1.00
IGL02967:Fam222b	APN	11	78,044,934 (GRCm39)	missense	probably benign	0.44
H8562:Fam222b	UTSW	11	78,045,404 (GRCm39)	missense	probably damaging	0.99
R0385:Fam222b	UTSW	11	78,045,756 (GRCm39)	missense	probably benign	0.01
R0478:Fam222b	UTSW	11	78,044,682 (GRCm39)	missense	probably damaging	1.00
R1565:Fam222b	UTSW	11	78,045,488 (GRCm39)	missense	possibly damaging	0.82
R1586:Fam222b	UTSW	11	78,045,347 (GRCm39)	missense	probably damaging	1.00
R1661:Fam222b	UTSW	11	78,045,987 (GRCm39)	missense	probably damaging	1.00
R1829:Fam222b	UTSW	11	78,045,861 (GRCm39)	missense	probably damaging	0.96
R1878:Fam222b	UTSW	11	78,034,042 (GRCm39)	critical splice donor site	probably null
R2301:Fam222b	UTSW	11	78,045,369 (GRCm39)	missense	probably damaging	1.00
R3120:Fam222b	UTSW	11	78,044,742 (GRCm39)	missense	probably damaging	1.00
R3915:Fam222b	UTSW	11	78,045,756 (GRCm39)	missense	probably benign	0.26
R4003:Fam222b	UTSW	11	78,045,755 (GRCm39)	missense	probably benign	0.13
R4748:Fam222b	UTSW	11	78,045,429 (GRCm39)	missense	possibly damaging	0.59
R4982:Fam222b	UTSW	11	78,045,569 (GRCm39)	missense	probably damaging	0.98
R5307:Fam222b	UTSW	11	78,044,594 (GRCm39)	missense	probably damaging	1.00
R5590:Fam222b	UTSW	11	78,045,858 (GRCm39)	missense	probably benign	0.16
R5618:Fam222b	UTSW	11	78,045,066 (GRCm39)	missense	probably benign	0.05
R7181:Fam222b	UTSW	11	78,045,804 (GRCm39)	missense	probably damaging	1.00
R7199:Fam222b	UTSW	11	78,045,683 (GRCm39)	missense	possibly damaging	0.55
R7285:Fam222b	UTSW	11	78,034,007 (GRCm39)	missense	probably benign	0.04
R7467:Fam222b	UTSW	11	78,045,173 (GRCm39)	missense	probably damaging	1.00
R7726:Fam222b	UTSW	11	78,044,577 (GRCm39)	missense	probably damaging	1.00
R7804:Fam222b	UTSW	11	78,044,979 (GRCm39)	missense	probably benign	0.00
R7941:Fam222b	UTSW	11	78,045,885 (GRCm39)	missense	possibly damaging	0.90
R9099:Fam222b	UTSW	11	78,046,020 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTTGGAGCCTCATGCTGTACTCTTG -3'
(R):5'- AAAGTGCTGGGTGCCACAGTAG -3'

Sequencing Primer
(F):5'- tctccttccctctctttctctc -3'
(R):5'- CTGGGTGCCACAGTAGCATAG -3'

Posted On

2013-04-11