Mutagenetix > Incidental Mutation

Incidental Mutation 'R6679:Fam13b'

527407

Institutional Source

Beutler Lab

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

MMRRC Submission

044798-MU

Accession Numbers

Essential gene?

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

Stock #

R6679 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34487022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 270 (T270A)

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

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

AlphaFold

Q8K2H3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040506
AA Change: T270A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: T270A

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: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

91% (40/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	A	5: 146,504,940	V299E	probably damaging	Het
Adgrb3	T	C	1: 25,131,296	I767V	probably benign	Het
Ahnak2	G	A	12: 112,772,976	T748I	probably damaging	Het
Aoc3	T	A	11: 101,331,453	L129M	probably damaging	Het
Arhgef7	T	A	8: 11,824,667	M540K	possibly damaging	Het
Bod1l	T	A	5: 41,816,666	K2435M	probably damaging	Het
Col11a1	A	G	3: 114,152,719		probably null	Het
Col5a3	C	T	9: 20,779,033	G1162R	probably damaging	Het
Creb5	G	T	6: 53,685,469	M250I	possibly damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dock10	A	G	1: 80,566,797	I557T	probably benign	Het
Efcab2	G	A	1: 178,437,404	A12T	probably benign	Het
Ehd1	A	G	19: 6,294,444	N245D	probably benign	Het
Erich3	T	A	3: 154,762,429	D839E	possibly damaging	Het
Fat2	A	T	11: 55,309,305	L981Q	probably damaging	Het
Fgfrl1	G	A	5: 108,704,972	W89*	probably null	Het
Fgfrl1	G	T	5: 108,704,973	W89C	probably damaging	Het
Gm10770	G	A	2: 150,179,649	P11S	probably damaging	Het
Gm10801	TC	TCGGC	2: 98,663,806		probably benign	Het
Hdac3	A	G	18: 37,944,933	V190A	possibly damaging	Het
Htr1a	A	G	13: 105,445,428	N392S	probably damaging	Het
Ift43	A	G	12: 86,138,818	M59V	probably benign	Het
Jakmip2	T	C	18: 43,565,949	T482A	probably damaging	Het
Myo1c	C	T	11: 75,671,635	P918S	probably benign	Het
Nme8	A	T	13: 19,690,970		probably null	Het
Olfr196	A	G	16: 59,167,846	I99T	probably benign	Het
Peg10	CCAACAACAACAACAACAACAACA	CCAACAACAACAACAACAACA	6: 4,754,276		probably benign	Het
Plec	A	G	15: 76,173,815	F3996S	probably damaging	Het
Ppfia4	A	T	1: 134,309,679	Y961N	probably damaging	Het
Rag1	G	A	2: 101,644,284	P171L	probably damaging	Het
Rbm24	A	T	13: 46,418,992		probably benign	Het
Rsf1	A	AAGGCGACGG	7: 97,579,904		probably null	Het
Rxfp3	T	C	15: 11,035,870	Y472C	probably damaging	Het
Sash1	T	A	10: 8,740,185	I638F	probably damaging	Het
Sh3glb2	G	A	2: 30,350,619	R145W	probably damaging	Het
Ston2	G	T	12: 91,648,096	P513T	probably damaging	Het
Sycp2	A	G	2: 178,380,928	M470T	probably damaging	Het
Syt10	C	A	15: 89,814,371	D257Y	probably damaging	Het
Tcfl5	G	T	2: 180,635,262	L447I	probably damaging	Het
Tlr11	T	C	14: 50,362,854	W766R	probably benign	Het
Usp33	T	A	3: 152,368,487	D19E	possibly damaging	Het
Vmn1r123	T	A	7: 21,162,943	Y253*	probably null	Het
Wdr55	G	A	18: 36,763,124	G289D	probably damaging	Het
Zfp523	C	T	17: 28,202,220	T235M	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
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
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'- TGTGACAGCAGCAAATAAAAGATCC -3'
(R):5'- TTGGCACTTTATAGGAGAGACTG -3'

Sequencing Primer
(F):5'- ACAAGGTCTTAGTGTACACGGCC -3'
(R):5'- CTTCCAGAAGAAGGTGTAG -3'

Posted On

2018-07-23