Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02313:Fam13b'

287888

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

34575404-34639884 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34587709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 530 (K530E)

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040506]

AlphaFold

Q8K2H3

Predicted Effect

probably damaging
Transcript: ENSMUST00000040506
AA Change: K530E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: K530E

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
RhoGAP	36	209	3.28e-44	SMART
coiled coil region	220	240	N/A	INTRINSIC
low complexity region	280	295	N/A	INTRINSIC
low complexity region	484	495	N/A	INTRINSIC
coiled coil region	507	532	N/A	INTRINSIC
low complexity region	719	726	N/A	INTRINSIC
coiled coil region	778	807	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,653,571 (GRCm39)	N136K	probably damaging	Het
Aph1b	A	T	9: 66,697,955 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,583,718 (GRCm39)	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,857,160 (GRCm39)	N400S	probably damaging	Het
Brca2	C	A	5: 150,462,126 (GRCm39)	S630Y	probably damaging	Het
Chd6	T	A	2: 160,807,595 (GRCm39)	E1873V	probably damaging	Het
Chrna10	T	C	7: 101,761,236 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,739,328 (GRCm39)	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,639,770 (GRCm39)	N264S	probably damaging	Het
Cyria	A	G	12: 12,414,752 (GRCm39)	T248A	possibly damaging	Het
Dgkg	A	G	16: 22,388,980 (GRCm39)		probably benign	Het
Dpysl2	T	G	14: 67,061,839 (GRCm39)	M256L	probably benign	Het
Dsp	G	T	13: 38,380,499 (GRCm39)	E1816*	probably null	Het
Fastk	T	C	5: 24,648,090 (GRCm39)	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,166,420 (GRCm39)	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,669,718 (GRCm39)	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,343,617 (GRCm39)	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,235,700 (GRCm39)	T167A	probably benign	Het
Igsf10	A	G	3: 59,238,111 (GRCm39)	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,865 (GRCm39)		probably null	Het
Krt31	A	G	11: 99,939,222 (GRCm39)	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,493,070 (GRCm39)		probably benign	Het
Mfn2	T	A	4: 147,969,947 (GRCm39)	I375F	probably damaging	Het
Mfrp	A	T	9: 44,014,171 (GRCm39)	I180F	probably damaging	Het
Msh3	T	C	13: 92,485,820 (GRCm39)	E168G	possibly damaging	Het
Naa16	A	T	14: 79,622,108 (GRCm39)	V77D	probably damaging	Het
Nav2	T	C	7: 49,208,521 (GRCm39)	S1570P	probably damaging	Het
Niban3	A	G	8: 72,055,504 (GRCm39)	R305G	possibly damaging	Het
Numa1	C	T	7: 101,649,439 (GRCm39)	R1057*	probably null	Het
Nup210l	G	A	3: 90,030,099 (GRCm39)	A271T	probably damaging	Het
Ogdh	T	C	11: 6,305,400 (GRCm39)	V965A	probably damaging	Het
Or10h28	C	A	17: 33,488,639 (GRCm39)	Q314K	probably benign	Het
Or4m1	A	T	14: 50,557,473 (GRCm39)	V273E	probably damaging	Het
Or6c219	A	G	10: 129,781,772 (GRCm39)	L53P	probably damaging	Het
Or7g21	A	T	9: 19,032,671 (GRCm39)	N140I	probably damaging	Het
Or8b51	T	A	9: 38,569,362 (GRCm39)	I109F	probably damaging	Het
Pdp2	A	T	8: 105,321,531 (GRCm39)	Q460L	probably benign	Het
Pex5l	T	C	3: 33,047,141 (GRCm39)	T270A	probably benign	Het
Pkp4	C	T	2: 59,140,598 (GRCm39)	Q435*	probably null	Het
Prss32	G	A	17: 24,075,096 (GRCm39)	V149M	probably benign	Het
Riox2	C	A	16: 59,309,780 (GRCm39)	P378Q	probably benign	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,781,521 (GRCm39)	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,652,321 (GRCm39)	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,894,387 (GRCm39)	G54*	probably null	Het
Slc24a5	C	T	2: 124,927,567 (GRCm39)		probably benign	Het
Tex101	C	T	7: 24,367,750 (GRCm39)	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,501,956 (GRCm39)	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,492,388 (GRCm39)	E382G	probably damaging	Het
Uggt1	A	T	1: 36,223,565 (GRCm39)	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,214,376 (GRCm39)	I259V	probably damaging	Het
Xpo1	T	A	11: 23,227,065 (GRCm39)	N131K	probably damaging	Het
Zfp579	C	T	7: 4,997,432 (GRCm39)	V160M	probably benign	Het
Zfp697	A	G	3: 98,332,766 (GRCm39)	D64G	probably benign	Het
Zfp974	T	C	7: 27,611,678 (GRCm39)	T16A	possibly damaging	Het

Other mutations in Fam13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Fam13b	APN	18	34,620,149 (GRCm39)	missense	possibly damaging	0.92
IGL00402:Fam13b	APN	18	34,587,771 (GRCm39)	missense	probably damaging	1.00
IGL00556:Fam13b	APN	18	34,630,488 (GRCm39)	missense	probably damaging	0.99
IGL02123:Fam13b	APN	18	34,578,671 (GRCm39)	unclassified	probably benign
IGL02346:Fam13b	APN	18	34,595,158 (GRCm39)	missense	probably benign	0.00
IGL02347:Fam13b	APN	18	34,587,757 (GRCm39)	missense	probably damaging	1.00
IGL02694:Fam13b	APN	18	34,584,259 (GRCm39)	critical splice donor site	probably null
IGL03347:Fam13b	APN	18	34,595,104 (GRCm39)	splice site	probably benign
R0109:Fam13b	UTSW	18	34,584,361 (GRCm39)	missense	probably benign	0.00
R0233:Fam13b	UTSW	18	34,581,137 (GRCm39)	missense	probably damaging	1.00
R0455:Fam13b	UTSW	18	34,578,581 (GRCm39)	unclassified	probably benign
R1229:Fam13b	UTSW	18	34,578,636 (GRCm39)	missense	probably benign	0.05
R1397:Fam13b	UTSW	18	34,578,636 (GRCm39)	missense	probably benign	0.05
R1571:Fam13b	UTSW	18	34,630,485 (GRCm39)	missense	possibly damaging	0.92
R1703:Fam13b	UTSW	18	34,584,492 (GRCm39)	critical splice acceptor site	probably null
R1732:Fam13b	UTSW	18	34,620,187 (GRCm39)	missense	probably benign	0.04
R1777:Fam13b	UTSW	18	34,590,813 (GRCm39)	missense	possibly damaging	0.84
R1956:Fam13b	UTSW	18	34,578,382 (GRCm39)	missense	possibly damaging	0.69
R2296:Fam13b	UTSW	18	34,627,814 (GRCm39)	missense	possibly damaging	0.88
R3881:Fam13b	UTSW	18	34,595,112 (GRCm39)	critical splice donor site	probably null
R3896:Fam13b	UTSW	18	34,596,008 (GRCm39)	splice site	probably benign
R5277:Fam13b	UTSW	18	34,595,243 (GRCm39)	missense	probably benign
R5759:Fam13b	UTSW	18	34,630,488 (GRCm39)	missense	probably damaging	0.99
R5817:Fam13b	UTSW	18	34,590,850 (GRCm39)	missense	possibly damaging	0.93
R5897:Fam13b	UTSW	18	34,587,134 (GRCm39)	missense	possibly damaging	0.83
R6009:Fam13b	UTSW	18	34,630,458 (GRCm39)	missense	possibly damaging	0.92
R6020:Fam13b	UTSW	18	34,627,827 (GRCm39)	missense	probably damaging	1.00
R6087:Fam13b	UTSW	18	34,620,192 (GRCm39)	missense	possibly damaging	0.48
R6151:Fam13b	UTSW	18	34,627,330 (GRCm39)	missense	probably damaging	0.96
R6454:Fam13b	UTSW	18	34,590,715 (GRCm39)	critical splice donor site	probably null
R6464:Fam13b	UTSW	18	34,606,684 (GRCm39)	nonsense	probably null
R6679:Fam13b	UTSW	18	34,620,075 (GRCm39)	missense	possibly damaging	0.53
R6723:Fam13b	UTSW	18	34,631,079 (GRCm39)	missense	possibly damaging	0.86
R6990:Fam13b	UTSW	18	34,630,500 (GRCm39)	missense	possibly damaging	0.92
R7420:Fam13b	UTSW	18	34,627,664 (GRCm39)	missense	probably damaging	1.00
R7517:Fam13b	UTSW	18	34,627,660 (GRCm39)	missense	probably damaging	0.98
R7534:Fam13b	UTSW	18	34,631,060 (GRCm39)	missense	probably damaging	0.97
R7889:Fam13b	UTSW	18	34,590,744 (GRCm39)	missense	probably benign	0.00
R8139:Fam13b	UTSW	18	34,606,686 (GRCm39)	missense	possibly damaging	0.50
R8776:Fam13b	UTSW	18	34,584,446 (GRCm39)	missense	probably damaging	1.00
R8776-TAIL:Fam13b	UTSW	18	34,584,446 (GRCm39)	missense	probably damaging	1.00
R8826:Fam13b	UTSW	18	34,631,070 (GRCm39)	missense	probably damaging	0.96
R9166:Fam13b	UTSW	18	34,595,252 (GRCm39)	missense	probably benign	0.10

Posted On

2015-04-16