Mutagenetix > Incidental Mutation

Incidental Mutation 'R7420:Fam13b'

575637

Institutional Source

Beutler Lab

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

MMRRC Submission

045498-MU

Accession Numbers

Essential gene?

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

Stock #

R7420 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34494611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 179 (P179Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

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

AlphaFold

Q8K2H3

Predicted Effect

probably damaging
Transcript: ENSMUST00000040506
AA Change: P179Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: P179Q

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

Meta Mutation Damage Score

0.7412

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	C	T	13: 64,297,317	G164D	possibly damaging	Het
Abca6	A	G	11: 110,250,477	V6A	probably benign	Het
Adam29	T	A	8: 55,872,898	M174L	probably benign	Het
Ano1	G	A	7: 144,655,641	T274I	probably benign	Het
Atad5	A	T	11: 80,095,862	T592S	probably benign	Het
Bud13	C	T	9: 46,287,815	P158L	probably benign	Het
Card19	T	C	13: 49,208,137	Y6C	probably damaging	Het
Cd36	C	G	5: 17,788,274	V393L	probably benign	Het
Cd79a	A	T	7: 24,897,546	R9*	probably null	Het
Cep164	T	C	9: 45,768,542	H1131R	probably benign	Het
Chia1	T	A	3: 106,130,664	S321T	probably benign	Het
Chrnd	T	A	1: 87,194,821	V217E	possibly damaging	Het
Cmtm7	T	C	9: 114,763,394		probably null	Het
Csn1s2a	T	C	5: 87,780,006	S60P	possibly damaging	Het
Defa30	T	A	8: 21,135,455	N78K	probably benign	Het
Dnah2	C	T	11: 69,478,797	A1618T	possibly damaging	Het
Dnah9	A	G	11: 66,117,407		probably null	Het
Epn1	A	T	7: 5,097,688	T546S	possibly damaging	Het
Fam135a	A	G	1: 24,012,486	S1443P	possibly damaging	Het
Git2	T	C	5: 114,730,370	T647A	probably benign	Het
Gli2	T	C	1: 118,835,939	N1494S	probably benign	Het
Gm4952	G	A	19: 12,626,901	G226R	probably damaging	Het
Gm5460	T	A	14: 34,036,757	F156I	probably damaging	Het
Gm884	A	T	11: 103,613,625	S2506T	probably benign	Het
Heatr5b	A	T	17: 78,808,480	V849D	probably damaging	Het
Hepacam	A	G	9: 37,380,709	D111G	probably benign	Het
Hk1	T	C	10: 62,269,982	D895G	probably damaging	Het
Kdm5b	T	C	1: 134,604,497	V471A	probably benign	Het
Klhdc8b	A	G	9: 108,449,118	Y239H	possibly damaging	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Krt82	T	C	15: 101,545,587	T229A	probably damaging	Het
Lztr1	T	C	16: 17,524,129	L656P	probably damaging	Het
Mfrp	T	C	9: 44,102,476		probably benign	Het
Mrvi1	A	T	7: 110,871,473	Y678*	probably null	Het
Nfe2l1	A	G	11: 96,819,913	S497P	probably benign	Het
Olfr694	G	A	7: 106,689,020	A237V	possibly damaging	Het
Olfr907	G	T	9: 38,499,063	L131F	probably benign	Het
Otud4	C	A	8: 79,664,108	T418K	probably benign	Het
Pcdhb21	A	G	18: 37,515,203	N462D	probably damaging	Het
Plch1	A	G	3: 63,722,857	S497P	probably damaging	Het
Plekha8	T	C	6: 54,613,194	V48A	probably damaging	Het
Ppp2r5d	A	T	17: 46,687,581	F121L	probably null	Het
Sdad1	G	A	5: 92,305,737	A64V	possibly damaging	Het
Selenop	G	T	15: 3,279,570	A335S	probably damaging	Het
Shc3	T	C	13: 51,431,235	N448S	probably benign	Het
Shcbp1	G	A	8: 4,748,737	T394I	probably benign	Het
Slc39a11	G	T	11: 113,247,822	A276E	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Speg	T	A	1: 75,430,905	S3185R	probably damaging	Het
Tmem100	A	T	11: 90,035,753	*135Y	probably null	Het
Ube2o	A	T	11: 116,540,072	F1001I	probably damaging	Het
Usp7	T	C	16: 8,710,121	D148G	probably benign	Het
Vmn2r16	A	G	5: 109,363,870	T648A	probably damaging	Het
Vmn2r67	A	G	7: 85,136,736	L687P	possibly damaging	Het
Zcchc14	ACCGCCGCCGCCGCCGCC	ACCGCCGCCGCCGCC	8: 121,651,791		probably benign	Het
Zfp800	A	G	6: 28,243,719	S416P	probably benign	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
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
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'- TGTACCCTGAACACAGCAATGC -3'
(R):5'- GAGCCTGGCAAAATATCTGAGC -3'

Sequencing Primer
(F):5'- TGAACACAGCAATGCTCTGAG -3'
(R):5'- GCCTGGCAAAATATCTGAGCTTTAC -3'

Posted On

2019-10-07