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

MMRRC Submission

045987-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.354) question?

Stock #

R7941 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78094660-78156700 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78155059 bp (GRCm38)

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: 31,689,679		probably benign	Het
AI467606	A	G	7: 127,092,421	E56G	probably damaging	Het
Ak9	C	T	10: 41,409,137	P1403S	unknown	Het
Akr1c14	A	G	13: 4,059,713	K28E	probably benign	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Anks1b	A	T	10: 90,577,155	N55I	probably damaging	Het
C87414	A	T	5: 93,638,028	V131D	probably benign	Het
Cabyr	T	C	18: 12,744,768	L54P	probably damaging	Het
Cachd1	A	T	4: 100,988,173	N954I	probably damaging	Het
Cenpf	A	G	1: 189,657,286	S1450P	probably damaging	Het
Chst10	T	A	1: 38,871,691	I131L	probably damaging	Het
Cluh	A	T	11: 74,659,757	M270L	probably benign	Het
Dagla	T	C	19: 10,271,503	H29R	probably damaging	Het
Dusp5	A	G	19: 53,537,533	N202S	probably benign	Het
Elavl3	A	G	9: 22,036,316	I110T	possibly damaging	Het
Fbxl7	A	G	15: 26,543,613	L316P	probably damaging	Het
Gad1	T	A	2: 70,594,585		probably null	Het
H2-K1	T	C	17: 33,999,331	T204A	probably benign	Het
Hmcn1	A	G	1: 150,650,084	V3296A	possibly damaging	Het
Hyal1	T	C	9: 107,578,100	F203S	probably damaging	Het
Il16	T	A	7: 83,682,829	D181V	probably damaging	Het
Ip6k1	T	C	9: 108,024,432	F69L	probably damaging	Het
Klf4	G	A	4: 55,531,755		probably benign	Het
Lsr	T	G	7: 30,973,095	I27L	probably benign	Het
Mettl4	A	T	17: 94,733,194		probably null	Het
Mpdz	A	G	4: 81,282,750	V1902A	probably benign	Het
Nfkbiz	C	T	16: 55,821,944	G37D	probably damaging	Het
Olfr1131	T	C	2: 87,628,904	V31A	probably benign	Het
Otogl	A	T	10: 107,806,802		probably null	Het
Pcdh1	T	C	18: 38,199,080	D429G	probably damaging	Het
Prelid2	A	T	18: 41,932,751	L73*	probably null	Het
Psg20	T	A	7: 18,681,177		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Rab24	C	T	13: 55,320,307		probably null	Het
Rag1	T	G	2: 101,642,346	K817T	probably benign	Het
Rgl2	T	C	17: 33,931,739	V57A	probably benign	Het
Ric1	T	C	19: 29,533,259	M80T	probably damaging	Het
Sh3rf3	T	C	10: 59,007,061	I283T	probably damaging	Het
Skint2	C	A	4: 112,625,990	N197K	probably damaging	Het
Snapc4	A	G	2: 26,376,718	I126T	probably damaging	Het
Srcap	GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	7: 127,558,290		probably benign	Het
Svip	T	C	7: 52,003,413	K51R	probably benign	Het
Syndig1	T	A	2: 149,899,788	V98E	probably benign	Het
Tshz1	A	T	18: 84,015,392	M297K	possibly damaging	Het
Ttn	A	G	2: 76,919,350	V3785A	probably benign	Het
Usf3	T	C	16: 44,215,561	S135P	probably damaging	Het
Vmn2r10	A	T	5: 108,996,440	M548K	probably damaging	Het
Vmn2r92	T	C	17: 18,184,837	S748P	possibly damaging	Het
Zbtb39	A	G	10: 127,743,540	Y661C	probably damaging	Het
Zfp804b	A	G	5: 6,770,042	I1007T	probably benign	Het
Zscan4-ps2	A	G	7: 11,517,672	I212V	probably benign	Het

Other mutations in Fam222b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01073:Fam222b	APN	11	78154488	missense	probably damaging	0.96
IGL01948:Fam222b	APN	11	78154339	missense	probably damaging	1.00
IGL02967:Fam222b	APN	11	78154108	missense	probably benign	0.44
H8562:Fam222b	UTSW	11	78154578	missense	probably damaging	0.99
R0087:Fam222b	UTSW	11	78153892	missense	probably benign	0.23
R0385:Fam222b	UTSW	11	78154930	missense	probably benign	0.01
R0478:Fam222b	UTSW	11	78153856	missense	probably damaging	1.00
R1565:Fam222b	UTSW	11	78154662	missense	possibly damaging	0.82
R1586:Fam222b	UTSW	11	78154521	missense	probably damaging	1.00
R1661:Fam222b	UTSW	11	78155161	missense	probably damaging	1.00
R1829:Fam222b	UTSW	11	78155035	missense	probably damaging	0.96
R1878:Fam222b	UTSW	11	78143216	critical splice donor site	probably null
R2301:Fam222b	UTSW	11	78154543	missense	probably damaging	1.00
R3120:Fam222b	UTSW	11	78153916	missense	probably damaging	1.00
R3915:Fam222b	UTSW	11	78154930	missense	probably benign	0.26
R4003:Fam222b	UTSW	11	78154929	missense	probably benign	0.13
R4748:Fam222b	UTSW	11	78154603	missense	possibly damaging	0.59
R4982:Fam222b	UTSW	11	78154743	missense	probably damaging	0.98
R5307:Fam222b	UTSW	11	78153768	missense	probably damaging	1.00
R5590:Fam222b	UTSW	11	78155032	missense	probably benign	0.16
R5618:Fam222b	UTSW	11	78154240	missense	probably benign	0.05
R7181:Fam222b	UTSW	11	78154978	missense	probably damaging	1.00
R7199:Fam222b	UTSW	11	78154857	missense	possibly damaging	0.55
R7285:Fam222b	UTSW	11	78143181	missense	probably benign	0.04
R7467:Fam222b	UTSW	11	78154347	missense	probably damaging	1.00
R7726:Fam222b	UTSW	11	78153751	missense	probably damaging	1.00
R7804:Fam222b	UTSW	11	78154153	missense	probably benign	0.00
R9099:Fam222b	UTSW	11	78155194	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