Mutagenetix > Incidental Mutation

Incidental Mutation 'R6087:Fam13b'

484626

Institutional Source

Beutler Lab

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

MMRRC Submission

044244-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.395) question?

Stock #

R6087 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34487139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 231 (V231I)

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

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

AlphaFold

Q8K2H3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040506
AA Change: V231I

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: V231I

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

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 87,971,762	K126R	possibly damaging	Het
9330182L06Rik	T	C	5: 9,399,255	S128P	probably damaging	Het
Adam7	A	T	14: 68,510,757	C548S	probably damaging	Het
Adar	C	A	3: 89,745,590	H260N	probably benign	Het
Ak9	A	G	10: 41,382,832	E775G	probably benign	Het
Arhgap35	T	C	7: 16,563,643	Y499C	probably damaging	Het
Bank1	A	G	3: 136,066,429	L480P	probably damaging	Het
Cep135	G	T	5: 76,615,791		probably null	Het
Cnga1	G	T	5: 72,610,812	A177E	probably damaging	Het
Cubn	T	A	2: 13,427,847	D1221V	probably damaging	Het
Cyp2d40	T	C	15: 82,764,004	Y36C	possibly damaging	Het
Dock8	C	A	19: 25,161,074	N1254K	probably benign	Het
Fbxo8	T	A	8: 56,569,318	Y122N	probably damaging	Het
Fmo2	T	A	1: 162,880,433	I378F	probably benign	Het
Golga3	A	T	5: 110,204,946	Q861L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Ighv3-8	G	T	12: 114,322,380	A114E	probably damaging	Het
Itga3	C	T	11: 95,052,443		probably null	Het
Kank1	G	A	19: 25,409,724	V254I	probably benign	Het
Lipo5	A	T	19: 33,465,975	I147K	unknown	Het
Lrfn2	A	G	17: 49,071,126	S412G	probably benign	Het
Lrrn3	T	C	12: 41,453,535	N261S	possibly damaging	Het
Mical2	C	T	7: 112,318,485	Q350*	probably null	Het
Nras	T	C	3: 103,060,321	F78L	probably damaging	Het
Nudt9	A	G	5: 104,050,813	I65V	probably benign	Het
Olfr1129	A	G	2: 87,575,915	D277G	probably benign	Het
Olfr1293-ps	A	T	2: 111,528,181	E289V	possibly damaging	Het
Oscar	G	A	7: 3,611,312	P143S	probably benign	Het
Pla2g4d	C	T	2: 120,270,006	G615D	probably damaging	Het
Plekha1	T	G	7: 130,900,571	S175A	probably benign	Het
Psg27	T	C	7: 18,556,944	K445E	probably benign	Het
Rad51c	A	G	11: 87,380,879	Y318H	probably benign	Het
Ret	G	T	6: 118,176,291	T472K	possibly damaging	Het
Tarbp1	T	C	8: 126,428,970	D1343G	probably benign	Het
Top2b	C	A	14: 16,409,864	R844S	probably benign	Het
Vmn1r171	T	A	7: 23,633,004	M218K	probably damaging	Het
Vmn2r89	A	T	14: 51,457,576		probably null	Het
Zc3h13	T	A	14: 75,330,709	D1147E	probably damaging	Het
Zgrf1	T	A	3: 127,615,486	L1703H	probably damaging	Het

Other mutations in Fam13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Fam13b	APN	18	34487096	missense	possibly damaging	0.92
IGL00402:Fam13b	APN	18	34454718	missense	probably damaging	1.00
IGL00556:Fam13b	APN	18	34497435	missense	probably damaging	0.99
IGL02123:Fam13b	APN	18	34445618	unclassified	probably benign
IGL02313:Fam13b	APN	18	34454656	missense	probably damaging	1.00
IGL02346:Fam13b	APN	18	34462105	missense	probably benign	0.00
IGL02347:Fam13b	APN	18	34454704	missense	probably damaging	1.00
IGL02694:Fam13b	APN	18	34451206	critical splice donor site	probably null
IGL03347:Fam13b	APN	18	34462051	splice site	probably benign
R0109:Fam13b	UTSW	18	34451308	missense	probably benign	0.00
R0233:Fam13b	UTSW	18	34448084	missense	probably damaging	1.00
R0455:Fam13b	UTSW	18	34445528	unclassified	probably benign
R1229:Fam13b	UTSW	18	34445583	missense	probably benign	0.05
R1397:Fam13b	UTSW	18	34445583	missense	probably benign	0.05
R1571:Fam13b	UTSW	18	34497432	missense	possibly damaging	0.92
R1703:Fam13b	UTSW	18	34451439	critical splice acceptor site	probably null
R1732:Fam13b	UTSW	18	34487134	missense	probably benign	0.04
R1777:Fam13b	UTSW	18	34457760	missense	possibly damaging	0.84
R1956:Fam13b	UTSW	18	34445329	missense	possibly damaging	0.69
R2296:Fam13b	UTSW	18	34494761	missense	possibly damaging	0.88
R3881:Fam13b	UTSW	18	34462059	critical splice donor site	probably null
R3896:Fam13b	UTSW	18	34462955	splice site	probably benign
R5277:Fam13b	UTSW	18	34462190	missense	probably benign
R5759:Fam13b	UTSW	18	34497435	missense	probably damaging	0.99
R5817:Fam13b	UTSW	18	34457797	missense	possibly damaging	0.93
R5897:Fam13b	UTSW	18	34454081	missense	possibly damaging	0.83
R6009:Fam13b	UTSW	18	34497405	missense	possibly damaging	0.92
R6020:Fam13b	UTSW	18	34494774	missense	probably damaging	1.00
R6151:Fam13b	UTSW	18	34494277	missense	probably damaging	0.96
R6454:Fam13b	UTSW	18	34457662	critical splice donor site	probably null
R6464:Fam13b	UTSW	18	34473631	nonsense	probably null
R6679:Fam13b	UTSW	18	34487022	missense	possibly damaging	0.53
R6723:Fam13b	UTSW	18	34498026	missense	possibly damaging	0.86
R6990:Fam13b	UTSW	18	34497447	missense	possibly damaging	0.92
R7420:Fam13b	UTSW	18	34494611	missense	probably damaging	1.00
R7517:Fam13b	UTSW	18	34494607	missense	probably damaging	0.98
R7534:Fam13b	UTSW	18	34498007	missense	probably damaging	0.97
R7889:Fam13b	UTSW	18	34457691	missense	probably benign	0.00
R8139:Fam13b	UTSW	18	34473633	missense	possibly damaging	0.50
R8776:Fam13b	UTSW	18	34451393	missense	probably damaging	1.00
R8776-TAIL:Fam13b	UTSW	18	34451393	missense	probably damaging	1.00
R8826:Fam13b	UTSW	18	34498017	missense	probably damaging	0.96
R9166:Fam13b	UTSW	18	34462199	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- CTTGAGTCTACAGTGAAAGTTGAC -3'
(R):5'- AATCTGGGGCCTTGAGCATG -3'

Sequencing Primer
(F):5'- GTCTACAGTGAAAGTTGACTCAAC -3'
(R):5'- GCACTTTATAGGAGAGACTGG -3'

Posted On

2017-08-16