Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02967:Fam222b'

365640

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam222b

Ensembl Gene

ENSMUSG00000037750

Gene Name

family with sequence similarity 222, member B

Synonyms

BC017647

Accession Numbers

Essential gene?

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

Stock #

IGL02967

Quality Score

Status

Chromosome

Chromosomal Location

77985486-78047526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78044934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 165 (A165V)

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: A165V

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000073384
Gene: ENSMUSG00000037750
AA Change: A165V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100782
AA Change: A37V

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126620
Gene: ENSMUSG00000037750
AA Change: A37V

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: A165V

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121832
Gene: ENSMUSG00000037750
AA Change: A165V

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,328,291 (GRCm39)	T3455A	probably damaging	Het
Abca8a	G	A	11: 109,941,762 (GRCm39)	P1169L	probably damaging	Het
Ablim3	T	A	18: 61,959,574 (GRCm39)	K272*	probably null	Het
Abtb3	A	G	10: 85,469,646 (GRCm39)	T856A	probably benign	Het
Acin1	A	G	14: 54,880,210 (GRCm39)	V574A	possibly damaging	Het
Acot4	A	T	12: 84,090,235 (GRCm39)	I311L	probably benign	Het
Akap9	C	T	5: 4,026,164 (GRCm39)	A1273V	probably benign	Het
Ap1g2	T	A	14: 55,342,479 (GRCm39)		probably benign	Het
Apob	A	T	12: 8,065,366 (GRCm39)	K4112*	probably null	Het
Aspdh	A	G	7: 44,114,963 (GRCm39)		probably null	Het
Atf7ip	T	C	6: 136,583,725 (GRCm39)	I1252T	probably damaging	Het
Avpr1a	A	G	10: 122,285,367 (GRCm39)	T220A	possibly damaging	Het
Bdp1	A	G	13: 100,178,778 (GRCm39)	F1856S	possibly damaging	Het
Cit	A	T	5: 116,083,896 (GRCm39)	N743I	probably benign	Het
Clvs2	T	C	10: 33,471,784 (GRCm39)	K174E	probably damaging	Het
Cyp4f40	A	T	17: 32,893,222 (GRCm39)	Q351L	probably damaging	Het
Dmbt1	G	T	7: 130,672,919 (GRCm39)	V550L	possibly damaging	Het
Edem1	T	G	6: 108,813,738 (GRCm39)	S178A	probably damaging	Het
Fer	T	C	17: 64,203,262 (GRCm39)	V64A	possibly damaging	Het
Fggy	T	G	4: 95,814,986 (GRCm39)	F535C	possibly damaging	Het
Fkbp15	A	T	4: 62,222,627 (GRCm39)	S1091T	probably damaging	Het
Fstl5	G	A	3: 76,229,498 (GRCm39)	V100M	probably damaging	Het
Fut7	G	T	2: 25,315,155 (GRCm39)	V91L	probably damaging	Het
Gemin4	A	T	11: 76,103,067 (GRCm39)	C565S	probably damaging	Het
Gzmm	C	T	10: 79,530,897 (GRCm39)	T233I	possibly damaging	Het
Hps5	A	T	7: 46,418,804 (GRCm39)	L789Q	possibly damaging	Het
Krt32	G	A	11: 99,974,876 (GRCm39)	S357F	possibly damaging	Het
Lrig2	C	T	3: 104,401,512 (GRCm39)		probably benign	Het
Lrp8	C	A	4: 107,718,431 (GRCm39)	Q678K	probably benign	Het
Mmp27	C	A	9: 7,571,591 (GRCm39)	Q45K	probably benign	Het
Myh1	A	G	11: 67,099,896 (GRCm39)	D602G	possibly damaging	Het
Ncoa1	G	T	12: 4,345,294 (GRCm39)	H684Q	probably damaging	Het
Nol9	T	C	4: 152,125,559 (GRCm39)	V170A	possibly damaging	Het
Notch2	A	G	3: 98,053,460 (GRCm39)	D2041G	probably damaging	Het
Nrg3	G	T	14: 38,390,256 (GRCm39)		probably benign	Het
Nuak1	T	A	10: 84,276,085 (GRCm39)	H46L	probably damaging	Het
Pdzd2	G	T	15: 12,374,427 (GRCm39)	Q1903K	probably benign	Het
Pik3c2g	T	C	6: 139,913,554 (GRCm39)	V616A	probably damaging	Het
Ppp6c	A	G	2: 39,116,229 (GRCm39)	Y9H	probably damaging	Het
Prdm11	A	T	2: 92,843,234 (GRCm39)	F75Y	probably damaging	Het
Prelid1	G	A	13: 55,472,219 (GRCm39)	V132I	probably benign	Het
Prom1	A	G	5: 44,201,740 (GRCm39)	S227P	probably damaging	Het
Psmb5	G	A	14: 54,854,083 (GRCm39)	R132C	probably benign	Het
Pus10	A	G	11: 23,668,602 (GRCm39)	N360D	probably damaging	Het
Pygm	G	A	19: 6,443,868 (GRCm39)	V610M	probably damaging	Het
Setd1a	A	G	7: 127,384,349 (GRCm39)		probably benign	Het
Sfmbt1	T	A	14: 30,538,759 (GRCm39)	W793R	probably damaging	Het
Slc25a4	A	G	8: 46,662,187 (GRCm39)	L157P	probably damaging	Het
Sost	T	G	11: 101,855,084 (GRCm39)	E75A	possibly damaging	Het
Tdrd9	A	G	12: 111,958,922 (GRCm39)	S119G	possibly damaging	Het
Tepsin	A	G	11: 119,984,954 (GRCm39)	I238T	probably benign	Het
Tfr2	T	A	5: 137,581,081 (GRCm39)	L507*	probably null	Het
Tmem106a	T	C	11: 101,477,121 (GRCm39)	I110T	possibly damaging	Het
Tmem38a	A	T	8: 73,339,926 (GRCm39)	D298V	possibly damaging	Het
Tmprss12	A	T	15: 100,183,262 (GRCm39)	R201S	probably benign	Het
Ugt2b36	T	C	5: 87,238,759 (GRCm39)	T271A	possibly damaging	Het
Virma	T	G	4: 11,514,096 (GRCm39)	V650G	probably benign	Het
Vmn1r220	A	T	13: 23,368,162 (GRCm39)	I178N	probably damaging	Het
Zfp609	A	G	9: 65,604,901 (GRCm39)	S1276P	possibly damaging	Het
Zfp809	A	G	9: 22,146,398 (GRCm39)	Y29C	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
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
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

Posted On

2015-12-18