Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03026:Fam133b'

408182

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: 0.537) question?

Stock #

IGL03026

Quality Score

Status

Chromosome

Chromosomal Location

3593833-3620238 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

G to T at 3609646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143004 (fasta)

Gene Model

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

AlphaFold

Q9CVI2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083110

Predicted Effect

unknown
Transcript: ENSMUST00000115527
AA Change: R138L

SMART Domains

Protein: ENSMUSP00000111189
Gene: ENSMUSG00000058503
AA Change: R138L

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

unknown
Transcript: ENSMUST00000197082
AA Change: R138L

SMART Domains

Protein: ENSMUSP00000142744
Gene: ENSMUSG00000058503
AA Change: R138L

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 benign
Transcript: ENSMUST00000199666

SMART Domains

Protein: ENSMUSP00000143004
Gene: ENSMUSG00000058503

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,410,516 (GRCm39)	V154A	possibly damaging	Het
Adcy4	T	C	14: 56,015,467 (GRCm39)	Y481C	probably damaging	Het
Adcy5	T	C	16: 34,977,412 (GRCm39)	V315A	probably benign	Het
Atf7ip	G	A	6: 136,582,380 (GRCm39)	S1130N	possibly damaging	Het
Ctss	A	G	3: 95,446,141 (GRCm39)	D87G	probably benign	Het
Cwf19l2	A	T	9: 3,428,777 (GRCm39)	K254N	probably benign	Het
Dnajc10	A	G	2: 80,179,647 (GRCm39)	D727G	probably damaging	Het
Dsg3	G	A	18: 20,670,029 (GRCm39)		probably null	Het
Ehmt1	T	C	2: 24,742,746 (GRCm39)	M478V	probably benign	Het
Enam	A	T	5: 88,651,158 (GRCm39)	N889I	probably benign	Het
Exo1	G	T	1: 175,736,003 (GRCm39)	*148L	probably null	Het
Foxj2	G	A	6: 122,815,139 (GRCm39)	A392T	probably benign	Het
Gbp4	G	T	5: 105,267,866 (GRCm39)	A460E	possibly damaging	Het
H1f5	G	A	13: 21,964,117 (GRCm39)		probably benign	Het
Has3	A	T	8: 107,605,242 (GRCm39)	I483F	probably benign	Het
Irak2	T	A	6: 113,653,612 (GRCm39)	V260E	probably damaging	Het
Kcnj8	T	C	6: 142,512,199 (GRCm39)		probably null	Het
Lama5	A	G	2: 179,837,760 (GRCm39)	V936A	probably benign	Het
Lmo7	C	T	14: 102,166,769 (GRCm39)		probably benign	Het
Morc3	T	A	16: 93,659,612 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,226,414 (GRCm39)		probably benign	Het
Nkx2-2	T	C	2: 147,027,742 (GRCm39)	Y66C	probably damaging	Het
Oaz1	G	A	10: 80,664,634 (GRCm39)		probably benign	Het
Or2y1f	A	T	11: 49,184,285 (GRCm39)	I46F	probably damaging	Het
Or6c38	G	A	10: 128,929,057 (GRCm39)	A262V	possibly damaging	Het
Or6c65	A	T	10: 129,603,910 (GRCm39)	M182L	probably benign	Het
Pkd2	A	T	5: 104,642,753 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,792,349 (GRCm39)		probably benign	Het
Ralgapa2	C	A	2: 146,302,695 (GRCm39)		probably benign	Het
Rfx7	T	C	9: 72,526,967 (GRCm39)	S1386P	probably damaging	Het
Ric1	T	G	19: 29,577,233 (GRCm39)	W1046G	probably benign	Het
Rrp12	C	A	19: 41,861,436 (GRCm39)	R957L	probably damaging	Het
Scn7a	T	C	2: 66,506,442 (GRCm39)	I1482M	probably damaging	Het
Sema3b	T	C	9: 107,479,262 (GRCm39)	N236S	probably damaging	Het
Skint6	T	A	4: 112,848,441 (GRCm39)		probably null	Het
Slfn5	T	C	11: 82,847,387 (GRCm39)	Y91H	probably benign	Het
Sptbn2	T	A	19: 4,774,261 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,249,046 (GRCm39)	L546P	probably benign	Het
Tas1r3	A	G	4: 155,946,300 (GRCm39)		probably benign	Het
Trim75	A	G	8: 65,436,438 (GRCm39)	V4A	probably benign	Het
Usp19	T	C	9: 108,370,344 (GRCm39)	L56P	probably damaging	Het
Vmn1r181	T	G	7: 23,684,000 (GRCm39)	I155S	possibly damaging	Het
Vmn2r43	G	T	7: 8,258,096 (GRCm39)	D372E	probably benign	Het
Vstm2b	C	A	7: 40,551,945 (GRCm39)	S99*	probably null	Het
Wdr11	A	G	7: 129,226,060 (GRCm39)	D735G	probably damaging	Het
Wee2	T	A	6: 40,438,915 (GRCm39)	M346K	probably benign	Het
Zap70	A	G	1: 36,818,798 (GRCm39)	K371R	possibly damaging	Het
Zfp990	A	T	4: 145,263,680 (GRCm39)	H226L	possibly damaging	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
IGL03218:Fam133b	APN	5	3,604,684 (GRCm39)	nonsense	probably null
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