Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03218:Fam133b'

413537

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam133b

Ensembl Gene

ENSMUSG00000058503

Gene Name

family with sequence similarity 133, member B

Synonyms

5830415L20Rik, 2900022K02Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.526) question?

Stock #

IGL03218

Quality Score

Status

Chromosome

Chromosomal Location

3593833-3620238 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 3604684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 24 (Q24*)

Ref Sequence

ENSEMBL: ENSMUSP00000143004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115527] [ENSMUST00000197082] [ENSMUST00000199666]

AlphaFold

Q9CVI2

Predicted Effect

probably null
Transcript: ENSMUST00000115527
AA Change: Q24*

SMART Domains

Protein: ENSMUSP00000111189
Gene: ENSMUSG00000058503
AA Change: Q24*

Domain	Start	End	E-Value	Type
coiled coil region	40	82	N/A	INTRINSIC
low complexity region	85	141	N/A	INTRINSIC
low complexity region	145	166	N/A	INTRINSIC
low complexity region	218	244	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196499

Predicted Effect

probably null
Transcript: ENSMUST00000197082
AA Change: Q24*

SMART Domains

Protein: ENSMUSP00000142744
Gene: ENSMUSG00000058503
AA Change: Q24*

Domain	Start	End	E-Value	Type
coiled coil region	40	82	N/A	INTRINSIC
low complexity region	85	158	N/A	INTRINSIC
low complexity region	201	227	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198598

Predicted Effect

probably null
Transcript: ENSMUST00000199666
AA Change: Q24*

SMART Domains

Protein: ENSMUSP00000143004
Gene: ENSMUSG00000058503
AA Change: Q24*

Domain	Start	End	E-Value	Type
coiled coil region	40	82	N/A	INTRINSIC
low complexity region	86	109	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,561,727 (GRCm39)		probably null	Het
Acot9	T	A	X: 154,078,207 (GRCm39)	V251E	possibly damaging	Het
Agtpbp1	A	G	13: 59,648,021 (GRCm39)	S600P	possibly damaging	Het
Amfr	A	T	8: 94,726,964 (GRCm39)	M157K	probably damaging	Het
Arvcf	T	C	16: 18,222,875 (GRCm39)		probably benign	Het
Ascc3	T	C	10: 50,699,949 (GRCm39)	V1924A	possibly damaging	Het
Atp10a	T	A	7: 58,438,196 (GRCm39)		probably null	Het
Atp1a2	T	A	1: 172,116,870 (GRCm39)	E249V	probably null	Het
C1qc	A	G	4: 136,617,598 (GRCm39)	L166P	probably damaging	Het
Col4a3	C	A	1: 82,620,927 (GRCm39)		probably benign	Het
Def8	A	G	8: 124,183,175 (GRCm39)	D258G	probably damaging	Het
Dll1	T	C	17: 15,593,830 (GRCm39)	D179G	probably benign	Het
Dnah14	C	A	1: 181,582,834 (GRCm39)	H3124Q	probably benign	Het
Fabp5	T	A	3: 10,080,023 (GRCm39)		probably benign	Het
Fam13c	A	C	10: 70,284,599 (GRCm39)	D25A	possibly damaging	Het
Flna	A	G	X: 73,278,208 (GRCm39)		probably null	Het
Frem1	T	A	4: 82,832,883 (GRCm39)	T1917S	probably benign	Het
Frmd4b	T	C	6: 97,285,075 (GRCm39)	T337A	probably benign	Het
Fxyd7	C	T	7: 30,743,995 (GRCm39)		probably null	Het
Galnt5	T	G	2: 57,889,401 (GRCm39)	S334A	possibly damaging	Het
Gm10220	T	C	5: 26,323,696 (GRCm39)	K117R	probably damaging	Het
Gpd2	T	A	2: 57,197,066 (GRCm39)	L207H	probably damaging	Het
H2-M10.3	T	A	17: 36,678,279 (GRCm39)	Y182F	probably damaging	Het
Itga8	T	C	2: 12,115,836 (GRCm39)	I1018V	possibly damaging	Het
Letmd1	T	C	15: 100,367,709 (GRCm39)	F89S	probably damaging	Het
Mcm3ap	A	G	10: 76,318,567 (GRCm39)	Y696C	probably damaging	Het
Mcpt9	A	G	14: 56,264,908 (GRCm39)	Y198H	probably damaging	Het
Mmp1b	A	G	9: 7,387,907 (GRCm39)	V29A	probably benign	Het
Myom1	A	G	17: 71,391,311 (GRCm39)	D940G	possibly damaging	Het
Myzap	A	G	9: 71,462,871 (GRCm39)	M225T	probably benign	Het
Naa25	A	G	5: 121,564,133 (GRCm39)	Y516C	probably damaging	Het
Nsdhl	T	A	X: 72,000,052 (GRCm39)		probably benign	Het
Olfml1	A	G	7: 107,170,476 (GRCm39)	E121G	possibly damaging	Het
Or11j4	A	T	14: 50,631,115 (GRCm39)	M301L	probably damaging	Het
Or4a72	A	G	2: 89,405,935 (GRCm39)	V45A	probably benign	Het
Or8k38	A	G	2: 86,488,703 (GRCm39)	I33T	probably benign	Het
Phex	C	T	X: 155,961,783 (GRCm39)	G636E	probably damaging	Het
Pkd2l2	A	T	18: 34,563,373 (GRCm39)	I475F	probably damaging	Het
Polr2b	T	A	5: 77,463,764 (GRCm39)	S54T	probably benign	Het
Prkx	A	T	X: 76,829,806 (GRCm39)	L85Q	probably damaging	Het
Smc1b	A	T	15: 84,973,914 (GRCm39)	I914N	probably benign	Het
Susd2	A	G	10: 75,478,459 (GRCm39)	L39P	probably benign	Het
Teddm2	C	T	1: 153,726,770 (GRCm39)	V35I	probably benign	Het
Tspo	T	A	15: 83,455,631 (GRCm39)	V6E	possibly damaging	Het
Vps41	G	T	13: 19,013,440 (GRCm39)	V353F	possibly damaging	Het
Wfdc18	T	A	11: 83,600,033 (GRCm39)		probably null	Het
Wsb1	C	T	11: 79,139,324 (GRCm39)	S124N	probably damaging	Het
Zfp445	T	C	9: 122,686,594 (GRCm39)	E177G	probably benign	Het
Zfp759	G	T	13: 67,287,480 (GRCm39)	V344L	probably benign	Het

Other mutations in Fam133b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01861:Fam133b	APN	5	3,614,242 (GRCm39)	splice site	probably benign
IGL03026:Fam133b	APN	5	3,609,646 (GRCm39)	utr 3 prime	probably benign
R0433:Fam133b	UTSW	5	3,608,560 (GRCm39)	splice site	probably benign
R1299:Fam133b	UTSW	5	3,604,626 (GRCm39)	splice site	probably benign
R3176:Fam133b	UTSW	5	3,608,522 (GRCm39)	missense	probably damaging	1.00
R3276:Fam133b	UTSW	5	3,608,522 (GRCm39)	missense	probably damaging	1.00
R3705:Fam133b	UTSW	5	3,611,034 (GRCm39)	splice site	probably benign
R4722:Fam133b	UTSW	5	3,593,949 (GRCm39)	critical splice donor site	probably null
R4799:Fam133b	UTSW	5	3,607,815 (GRCm39)	missense	probably damaging	0.99
R6151:Fam133b	UTSW	5	3,609,133 (GRCm39)	missense	probably null
R6709:Fam133b	UTSW	5	3,619,059 (GRCm39)	utr 3 prime	probably benign
R6835:Fam133b	UTSW	5	3,604,732 (GRCm39)	missense	possibly damaging	0.94
R8056:Fam133b	UTSW	5	3,615,744 (GRCm39)	missense	unknown

Posted On

2016-08-02