Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01761:Fam193b'

153577

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam193b

Ensembl Gene

ENSMUSG00000021495

Gene Name

family with sequence similarity 193, member B

Synonyms

IRIZIO

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

IGL01761

Quality Score

Status

Chromosome

Chromosomal Location

55687129-55718920 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55697070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 340 (T340I)

Ref Sequence

ENSEMBL: ENSMUSP00000021957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021957] [ENSMUST00000225240]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021957
AA Change: T340I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000021957
Gene: ENSMUSG00000021495
AA Change: T340I

Domain	Start	End	E-Value	Type
low complexity region	55	71	N/A	INTRINSIC
low complexity region	133	144	N/A	INTRINSIC
low complexity region	161	174	N/A	INTRINSIC
low complexity region	198	242	N/A	INTRINSIC
low complexity region	260	286	N/A	INTRINSIC
coiled coil region	371	404	N/A	INTRINSIC
low complexity region	566	573	N/A	INTRINSIC
low complexity region	622	635	N/A	INTRINSIC
low complexity region	641	657	N/A	INTRINSIC
Pfam:FAM193_C	722	776	9.6e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224486

Predicted Effect

probably benign
Transcript: ENSMUST00000225240

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	C	17: 37,289,699 (GRCm39)	T44A	probably damaging	Het
A2ml1	T	A	6: 128,523,300 (GRCm39)	Q1212L	possibly damaging	Het
A530064D06Rik	T	C	17: 48,460,127 (GRCm39)	S190G	possibly damaging	Het
AA986860	A	G	1: 130,670,459 (GRCm39)	H227R	possibly damaging	Het
Ace	C	A	11: 105,870,319 (GRCm39)	A826E	possibly damaging	Het
Amigo3	G	A	9: 107,930,601 (GRCm39)	G8D	possibly damaging	Het
Angpt1	A	T	15: 42,339,863 (GRCm39)	F283I	possibly damaging	Het
Arhgef5	T	C	6: 43,251,538 (GRCm39)	L763P	probably benign	Het
Atr	T	C	9: 95,833,501 (GRCm39)		probably benign	Het
C4b	T	A	17: 34,958,912 (GRCm39)	M506L	possibly damaging	Het
Cdc25a	T	C	9: 109,720,933 (GRCm39)		probably benign	Het
Dcaf17	T	C	2: 70,886,881 (GRCm39)	S57P	probably damaging	Het
Dph5	T	A	3: 115,693,362 (GRCm39)	D93E	probably damaging	Het
Fam169a	A	G	13: 97,228,426 (GRCm39)	E33G	possibly damaging	Het
Glod4	T	C	11: 76,134,428 (GRCm39)	N15D	probably benign	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Inpp5k	A	G	11: 75,538,503 (GRCm39)	E102G	possibly damaging	Het
Kif27	A	T	13: 58,485,459 (GRCm39)	D500E	probably benign	Het
Lmntd1	A	G	6: 145,379,448 (GRCm39)	I15T	possibly damaging	Het
Lrp2	C	T	2: 69,311,579 (GRCm39)	R2633H	possibly damaging	Het
Lrp4	G	A	2: 91,312,326 (GRCm39)		probably null	Het
Lrrc3b	A	C	14: 15,358,098 (GRCm38)	N169K	probably benign	Het
Marchf7	T	C	2: 60,064,539 (GRCm39)	S272P	probably benign	Het
Mier2	A	G	10: 79,384,186 (GRCm39)		probably null	Het
Myo9b	G	A	8: 71,801,796 (GRCm39)	S1307N	probably damaging	Het
Or4c115	G	T	2: 88,927,888 (GRCm39)	P128T	probably damaging	Het
Or5p69	T	G	7: 107,967,525 (GRCm39)	V276G	probably damaging	Het
Phkb	A	T	8: 86,745,693 (GRCm39)	M629L	probably benign	Het
Rergl	C	A	6: 139,478,863 (GRCm39)	V4F	probably damaging	Het
Rgs22	A	T	15: 36,103,897 (GRCm39)	I188N	probably damaging	Het
Rgs3	G	T	4: 62,570,946 (GRCm39)		probably benign	Het
Rpl4	T	A	9: 64,082,221 (GRCm39)	V40D	probably damaging	Het
Sox4	A	T	13: 29,136,790 (GRCm39)	I72N	possibly damaging	Het
Syne1	A	C	10: 5,355,456 (GRCm39)	V375G	probably damaging	Het
Tfrc	G	T	16: 32,447,369 (GRCm39)	D662Y	probably damaging	Het
Ubqln5	T	C	7: 103,777,634 (GRCm39)	R397G	possibly damaging	Het
Unc13d	T	C	11: 115,964,695 (GRCm39)	D257G	probably damaging	Het
Vmn1r160	A	T	7: 22,570,868 (GRCm39)	N74Y	probably damaging	Het
Vmn1r168	T	A	7: 23,241,070 (GRCm39)	I309N	possibly damaging	Het
Vmn1r20	T	C	6: 57,408,725 (GRCm39)	L17P	probably damaging	Het
Wdr19	A	G	5: 65,373,163 (GRCm39)	I142V	possibly damaging	Het
Zan	A	T	5: 137,423,859 (GRCm39)	I2680N	unknown	Het
Zbtb20	T	C	16: 43,431,024 (GRCm39)	F512L	possibly damaging	Het

Other mutations in Fam193b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Fam193b	APN	13	55,691,266 (GRCm39)	missense	probably damaging	1.00
IGL01916:Fam193b	APN	13	55,698,031 (GRCm39)	splice site	probably benign
IGL03022:Fam193b	APN	13	55,691,475 (GRCm39)	missense	probably damaging	1.00
G1citation:Fam193b	UTSW	13	55,689,504 (GRCm39)	unclassified	probably benign
R0081:Fam193b	UTSW	13	55,702,024 (GRCm39)	unclassified	probably benign
R1170:Fam193b	UTSW	13	55,689,518 (GRCm39)	missense	probably damaging	1.00
R1497:Fam193b	UTSW	13	55,702,247 (GRCm39)	missense	probably damaging	0.99
R2069:Fam193b	UTSW	13	55,690,811 (GRCm39)	missense	probably damaging	1.00
R2517:Fam193b	UTSW	13	55,690,629 (GRCm39)	missense	probably damaging	1.00
R4301:Fam193b	UTSW	13	55,690,417 (GRCm39)	nonsense	probably null
R4720:Fam193b	UTSW	13	55,691,250 (GRCm39)	missense	probably benign	0.17
R4782:Fam193b	UTSW	13	55,691,284 (GRCm39)	missense	probably damaging	1.00
R4959:Fam193b	UTSW	13	55,691,097 (GRCm39)	missense	probably damaging	1.00
R6652:Fam193b	UTSW	13	55,690,603 (GRCm39)	missense	probably damaging	0.99
R6738:Fam193b	UTSW	13	55,698,174 (GRCm39)	missense	probably benign	0.01
R6822:Fam193b	UTSW	13	55,689,504 (GRCm39)	unclassified	probably benign
R7380:Fam193b	UTSW	13	55,690,612 (GRCm39)	missense	probably benign	0.00
R8323:Fam193b	UTSW	13	55,702,223 (GRCm39)	nonsense	probably null
R8547:Fam193b	UTSW	13	55,698,117 (GRCm39)	missense	probably damaging	1.00
X0011:Fam193b	UTSW	13	55,690,443 (GRCm39)	missense	probably damaging	1.00
X0066:Fam193b	UTSW	13	55,698,073 (GRCm39)	nonsense	probably null

Posted On

2014-02-04