Mutagenetix > Incidental Mutation

Incidental Mutation 'R5759:Fam13b'

445214

Institutional Source

Beutler Lab

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

MMRRC Submission

043361-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

R5759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34497435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 90 (D90G)

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

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

AlphaFold

Q8K2H3

Predicted Effect

probably damaging
Transcript: ENSMUST00000040506
AA Change: D90G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: D90G

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: 99.5%
3x: 98.8%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,068,658	S1203P	probably benign	Het
Adamts1	A	G	16: 85,798,048	V341A	possibly damaging	Het
AF529169	A	T	9: 89,601,072	N757K	probably benign	Het
Arf2	G	A	11: 103,983,633	G144S	probably benign	Het
Atr	A	G	9: 95,874,402	N862D	probably benign	Het
Cep295nl	T	C	11: 118,333,646	H124R	possibly damaging	Het
Chd6	C	T	2: 160,983,762	V1141I	possibly damaging	Het
Chst5	C	A	8: 111,890,210	K259N	probably benign	Het
Dchs1	T	A	7: 105,764,176	D1144V	probably damaging	Het
Dmxl2	T	C	9: 54,375,508	Y2795C	probably damaging	Het
Dnah7b	A	G	1: 46,277,120	N3131S	probably damaging	Het
Dnah7c	G	A	1: 46,615,367	G1436R	probably damaging	Het
Emp2	T	A	16: 10,284,510	Y146F	probably damaging	Het
Exoc6	C	T	19: 37,573,741	Q148*	probably null	Het
Fam186b	T	G	15: 99,279,717	Y576S	probably benign	Het
Fras1	T	C	5: 96,709,916	V2023A	probably benign	Het
Gm14409	A	T	2: 177,264,972	C244*	probably null	Het
Grm5	A	C	7: 88,026,600	M441L	probably damaging	Het
Hhatl	A	G	9: 121,788,277	Y297H	probably damaging	Het
Ifi30	A	G	8: 70,766,544		probably benign	Het
Ing2	G	T	8: 47,669,005	N169K	possibly damaging	Het
Kat6a	T	G	8: 22,938,012	S1128A	probably benign	Het
Madd	T	C	2: 91,162,075	E1041G	possibly damaging	Het
Mcm3	CT	CTT	1: 20,808,748		probably null	Het
Mfsd5	G	A	15: 102,281,078	G295D	possibly damaging	Het
Mmp20	T	A	9: 7,628,377		probably null	Het
Mybphl	T	C	3: 108,374,754	V100A	probably benign	Het
Ndfip2	T	A	14: 105,302,316		probably null	Het
Olfr862	A	G	9: 19,884,188	V39A	probably benign	Het
Olfr869	T	A	9: 20,137,932	V272E	probably benign	Het
Olfr905	T	A	9: 38,473,535	S263T	possibly damaging	Het
Phf19	T	G	2: 34,897,123	D443A	probably damaging	Het
Piezo1	A	G	8: 122,507,655	V84A	probably damaging	Het
Sept9	A	G	11: 117,352,268	I94V	probably benign	Het
Slc35a1	C	A	4: 34,675,032	V132L	probably benign	Het
Sntg1	G	A	1: 8,414,270	S442L	probably benign	Het
Tcf25	A	G	8: 123,381,457	T84A	probably benign	Het
Tchhl1	C	G	3: 93,471,556	S522R	probably damaging	Het
Tmem106b	A	G	6: 13,075,042	E76G	probably damaging	Het
Tnk2	C	T	16: 32,680,664	P932S	probably benign	Het
Trib1	G	A	15: 59,654,501	V307I	probably benign	Het
Trib3	A	T	2: 152,343,295	D11E	probably benign	Het
Trim34b	T	C	7: 104,331,433	S243P	possibly damaging	Het
Vmn2r50	A	G	7: 10,047,978	I280T	probably damaging	Het
Zfp445	G	T	9: 122,853,146	Q577K	probably benign	Het
Zfp599	T	C	9: 22,249,661	K403E	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
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
R6087:Fam13b	UTSW	18	34487139	missense	possibly damaging	0.48
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'- GATCCAAGAATTTTGCCACTCC -3'
(R):5'- TGCATATGTGGCTAGACACTTG -3'

Sequencing Primer
(F):5'- AAGAATTTTGCCACTCCCTTAAC -3'
(R):5'- GACACTTGAAGGTGCAGCTTAATTC -3'

Posted On

2016-11-21