Mutagenetix > Incidental Mutation

Incidental Mutation 'R7804:Fam222b'

600681

Institutional Source

Beutler Lab

Gene Symbol

Fam222b

Ensembl Gene

ENSMUSG00000037750

Gene Name

family with sequence similarity 222, member B

Synonyms

BC017647

MMRRC Submission

045859-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.327) question?

Stock #

R7804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77985486-78047526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78044979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 180 (P180Q)

Ref Sequence

ENSEMBL: ENSMUSP00000073384 (fasta)

Gene Model

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

AlphaFold

Q6P539

Predicted Effect

probably benign
Transcript: ENSMUST00000073705
AA Change: P180Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000073384
Gene: ENSMUSG00000037750
AA Change: P180Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100782
AA Change: P52Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126620
Gene: ENSMUSG00000037750
AA Change: P52Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155571
AA Change: P180Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000121832
Gene: ENSMUSG00000037750
AA Change: P180Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

95% (55/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTATGTGT	GTGTGT	11: 43,478,241 (GRCm39)		probably benign	Het
Ago4	A	T	4: 126,406,423 (GRCm39)	C296S	probably benign	Het
Apbb1	A	G	7: 105,215,807 (GRCm39)	L401P	probably damaging	Het
Cacnb2	C	A	2: 14,972,848 (GRCm39)	P252T	probably benign	Het
Ctnna2	C	T	6: 77,618,357 (GRCm39)	V202I	probably benign	Het
Dapk1	A	T	13: 60,873,153 (GRCm39)	I352F	probably benign	Het
Dexi	T	C	16: 10,360,349 (GRCm39)	D69G	possibly damaging	Het
Dlg5	T	C	14: 24,215,388 (GRCm39)	E645G	possibly damaging	Het
Dnah3	A	G	7: 119,551,841 (GRCm39)	I2826T	probably damaging	Het
Dnah3	A	G	7: 119,610,235 (GRCm39)	W1734R	probably damaging	Het
Dtna	A	G	18: 23,728,666 (GRCm39)	K287R	probably damaging	Het
Elovl5	A	G	9: 77,887,105 (GRCm39)		probably null	Het
Ess2	T	A	16: 17,729,031 (GRCm39)	I47F	probably damaging	Het
Fat3	C	T	9: 15,901,888 (GRCm39)	V3046I	probably benign	Het
Fem1a	A	G	17: 56,565,068 (GRCm39)	D387G	probably damaging	Het
Frmd5	A	G	2: 121,422,225 (GRCm39)	Y33H	probably damaging	Het
Gucy2g	A	T	19: 55,216,584 (GRCm39)	L464H	probably benign	Het
Ints2	T	C	11: 86,103,489 (GRCm39)	E1189G	possibly damaging	Het
Itgb4	T	C	11: 115,894,510 (GRCm39)	V1355A	probably damaging	Het
Lepr	A	T	4: 101,639,783 (GRCm39)	S750C	probably damaging	Het
Lingo1	T	C	9: 56,526,798 (GRCm39)	D603G	probably benign	Het
Map4k3	A	C	17: 80,922,499 (GRCm39)	V474G	probably damaging	Het
Myl4	T	A	11: 104,475,787 (GRCm39)	V167E	probably damaging	Het
Naa25	T	C	5: 121,562,652 (GRCm39)	V478A	probably benign	Het
Neurl4	T	A	11: 69,796,700 (GRCm39)	L487H	probably benign	Het
Nkx2-9	C	T	12: 56,658,917 (GRCm39)	R99H	probably damaging	Het
Or4c110	C	G	2: 88,831,855 (GRCm39)	R259P	unknown	Het
Or52x1	A	T	7: 104,853,367 (GRCm39)	M61K	probably damaging	Het
Or6c76	A	G	10: 129,612,091 (GRCm39)	I103V	probably benign	Het
Pcdhga9	A	G	18: 37,871,132 (GRCm39)	I320M	probably damaging	Het
Pi15	T	A	1: 17,695,137 (GRCm39)	C251*	probably null	Het
Pkhd1l1	A	T	15: 44,460,534 (GRCm39)	K4248*	probably null	Het
Prkg1	C	T	19: 30,556,032 (GRCm39)	V625I	probably benign	Het
Prkg1	G	A	19: 30,602,170 (GRCm39)	A362V	possibly damaging	Het
Prol1	C	T	5: 88,476,264 (GRCm39)	T218I	unknown	Het
Ptpro	G	A	6: 137,376,599 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,699,481 (GRCm39)	I1326K	probably benign	Het
Shank1	C	A	7: 43,962,308 (GRCm39)	R60S	unknown	Het
Slc24a2	A	G	4: 86,909,774 (GRCm39)	V648A	probably damaging	Het
Slc35d3	T	C	10: 19,725,116 (GRCm39)	T247A	probably damaging	Het
Specc1	C	T	11: 62,096,223 (GRCm39)	T895I	probably damaging	Het
Spta1	A	G	1: 174,023,471 (GRCm39)	E626G	possibly damaging	Het
Syngr2	C	A	11: 117,703,401 (GRCm39)	S72R	possibly damaging	Het
Synj2	T	A	17: 6,069,809 (GRCm39)	L490Q	unknown	Het
Tbc1d9	T	C	8: 83,963,341 (GRCm39)	L351P	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Themis3	G	A	17: 66,862,605 (GRCm39)	T451I	probably benign	Het
Tia1	T	C	6: 86,401,364 (GRCm39)	S146P	probably benign	Het
Tpp2	T	A	1: 44,022,441 (GRCm39)	N946K	probably benign	Het
Tpr	A	T	1: 150,308,310 (GRCm39)	R1688S	probably damaging	Het
Trav12-1	A	G	14: 53,775,988 (GRCm39)	Q47R	possibly damaging	Het
Ttll9	G	A	2: 152,844,278 (GRCm39)		probably null	Het
Ttn	G	A	2: 76,537,585 (GRCm39)	T34781M	possibly damaging	Het
V1ra8	A	G	6: 90,180,298 (GRCm39)	Y167C	probably damaging	Het
Vegfb	T	C	19: 6,963,707 (GRCm39)	D84G	probably damaging	Het
Vmn2r14	A	T	5: 109,368,324 (GRCm39)	L223M	probably benign	Het
Wdr26	A	G	1: 181,010,387 (GRCm39)	I554T	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
R0087:Fam222b	UTSW	11	78,044,718 (GRCm39)	missense	probably benign	0.23
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
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'- CTCAAGGACTTTGACGGCAC -3'
(R):5'- TAGACACGGTCACATTCGGG -3'

Sequencing Primer
(F):5'- CGAGCTCGGTTCCTCCCTG -3'
(R):5'- TCACATTCGGGGGTGCATC -3'

Posted On

2019-11-26