Mutagenetix > Incidental Mutation

Incidental Mutation 'R7941:Fam222b'

649066

Institutional Source

Beutler Lab

Gene Symbol

Fam222b

Ensembl Gene

ENSMUSG00000037750

Gene Name

family with sequence similarity 222, member B

Synonyms

BC017647

MMRRC Submission

045987-MU

Accession Numbers

Essential gene?

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

Stock #

R7941 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77985486-78047526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78045885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 482 (G482V)

Ref Sequence

ENSEMBL: ENSMUSP00000073384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017530] [ENSMUST00000073705] [ENSMUST00000100782] [ENSMUST00000155571]

AlphaFold

Q6P539

Predicted Effect

probably benign
Transcript: ENSMUST00000017530

SMART Domains

Protein: ENSMUSP00000017530
Gene: ENSMUSG00000017386

Domain	Start	End	E-Value	Type
RING	18	57	1.41e-4	SMART
Pfam:zf-TRAF	102	156	3.4e-19	PFAM
Pfam:zf-TRAF	156	210	4e-12	PFAM
Pfam:zf-TRAF	210	269	4.2e-23	PFAM
low complexity region	287	302	N/A	INTRINSIC
MATH	312	445	1.04e-20	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073705
AA Change: G482V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073384
Gene: ENSMUSG00000037750
AA Change: G482V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100782
AA Change: G354V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126620
Gene: ENSMUSG00000037750
AA Change: G354V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155571
AA Change: G482V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121832
Gene: ENSMUSG00000037750
AA Change: G482V

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

Meta Mutation Damage Score

0.0731

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	C	2: 31,579,691 (GRCm39)		probably benign	Het
AI467606	A	G	7: 126,691,593 (GRCm39)	E56G	probably damaging	Het
Ak9	C	T	10: 41,285,133 (GRCm39)	P1403S	unknown	Het
Akr1c14	A	G	13: 4,109,713 (GRCm39)	K28E	probably benign	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Anks1b	A	T	10: 90,413,017 (GRCm39)	N55I	probably damaging	Het
Cabyr	T	C	18: 12,877,825 (GRCm39)	L54P	probably damaging	Het
Cachd1	A	T	4: 100,845,370 (GRCm39)	N954I	probably damaging	Het
Cenpf	A	G	1: 189,389,483 (GRCm39)	S1450P	probably damaging	Het
Chst10	T	A	1: 38,910,772 (GRCm39)	I131L	probably damaging	Het
Cluh	A	T	11: 74,550,583 (GRCm39)	M270L	probably benign	Het
Dagla	T	C	19: 10,248,867 (GRCm39)	H29R	probably damaging	Het
Dusp5	A	G	19: 53,525,964 (GRCm39)	N202S	probably benign	Het
Elavl3	A	G	9: 21,947,612 (GRCm39)	I110T	possibly damaging	Het
Fbxl7	A	G	15: 26,543,699 (GRCm39)	L316P	probably damaging	Het
Gad1	T	A	2: 70,424,929 (GRCm39)		probably null	Het
H2-K2	T	C	17: 34,218,305 (GRCm39)	T204A	probably benign	Het
Hmcn1	A	G	1: 150,525,835 (GRCm39)	V3296A	possibly damaging	Het
Hyal1	T	C	9: 107,455,299 (GRCm39)	F203S	probably damaging	Het
Il16	T	A	7: 83,332,037 (GRCm39)	D181V	probably damaging	Het
Ip6k1	T	C	9: 107,901,631 (GRCm39)	F69L	probably damaging	Het
Klf4	G	A	4: 55,531,755 (GRCm39)		probably benign	Het
Lsr	T	G	7: 30,672,520 (GRCm39)	I27L	probably benign	Het
Mettl4	A	T	17: 95,040,622 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,200,987 (GRCm39)	V1902A	probably benign	Het
Nfkbiz	C	T	16: 55,642,307 (GRCm39)	G37D	probably damaging	Het
Or5w11	T	C	2: 87,459,248 (GRCm39)	V31A	probably benign	Het
Otogl	A	T	10: 107,642,663 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,332,133 (GRCm39)	D429G	probably damaging	Het
Pramel34	A	T	5: 93,785,887 (GRCm39)	V131D	probably benign	Het
Prelid2	A	T	18: 42,065,816 (GRCm39)	L73*	probably null	Het
Psg20	T	A	7: 18,415,102 (GRCm39)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Rab24	C	T	13: 55,468,120 (GRCm39)		probably null	Het
Rag1	T	G	2: 101,472,691 (GRCm39)	K817T	probably benign	Het
Rgl2	T	C	17: 34,150,713 (GRCm39)	V57A	probably benign	Het
Ric1	T	C	19: 29,510,659 (GRCm39)	M80T	probably damaging	Het
Sh3rf3	T	C	10: 58,842,883 (GRCm39)	I283T	probably damaging	Het
Skint2	C	A	4: 112,483,187 (GRCm39)	N197K	probably damaging	Het
Snapc4	A	G	2: 26,266,730 (GRCm39)	I126T	probably damaging	Het
Srcap	GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	7: 127,157,462 (GRCm39)		probably benign	Het
Svip	T	C	7: 51,653,161 (GRCm39)	K51R	probably benign	Het
Syndig1	T	A	2: 149,741,708 (GRCm39)	V98E	probably benign	Het
Tshz1	A	T	18: 84,033,517 (GRCm39)	M297K	possibly damaging	Het
Ttn	A	G	2: 76,749,694 (GRCm39)	V3785A	probably benign	Het
Usf3	T	C	16: 44,035,924 (GRCm39)	S135P	probably damaging	Het
Vmn2r10	A	T	5: 109,144,306 (GRCm39)	M548K	probably damaging	Het
Vmn2r92	T	C	17: 18,405,099 (GRCm39)	S748P	possibly damaging	Het
Zbtb39	A	G	10: 127,579,409 (GRCm39)	Y661C	probably damaging	Het
Zfp804b	A	G	5: 6,820,042 (GRCm39)	I1007T	probably benign	Het
Zscan4-ps2	A	G	7: 11,251,599 (GRCm39)	I212V	probably benign	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
R7804:Fam222b	UTSW	11	78,044,979 (GRCm39)	missense	probably benign	0.00
R9099:Fam222b	UTSW	11	78,046,020 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGGCACAGTCCTTCCATCTG -3'
(R):5'- TTCGACTATCTGTGGGATCAGG -3'

Sequencing Primer
(F):5'- ATCTGAAGCCACCCCTGGAG -3'
(R):5'- CTATCTGTGGGATCAGGGGCTC -3'

Posted On

2020-09-15