Mutagenetix > Incidental Mutation

Incidental Mutation 'R9742:Fam89b'

731898

Institutional Source

Beutler Lab

Gene Symbol

Fam89b

Ensembl Gene

ENSMUSG00000024939

Gene Name

family with sequence similarity 89, member B

Synonyms

Mtvr2, 1110021A21Rik, Fam89b

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R9742 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5778115-5779681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5779330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 76 (S76T)

Ref Sequence

ENSEMBL: ENSMUSP00000097538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025885] [ENSMUST00000049295] [ENSMUST00000075606] [ENSMUST00000099955] [ENSMUST00000116558] [ENSMUST00000159693] [ENSMUST00000160852] [ENSMUST00000161368]

AlphaFold

Q9QUI1

Predicted Effect

probably benign
Transcript: ENSMUST00000025885

SMART Domains

Protein: ENSMUSP00000025885
Gene: ENSMUSG00000079478

Domain	Start	End	E-Value	Type
Pfam:Auto_anti-p27	36	74	2.8e-20	PFAM
low complexity region	107	122	N/A	INTRINSIC
low complexity region	127	145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000049295

SMART Domains

Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	164	3.2e-24	PFAM
low complexity region	245	256	N/A	INTRINSIC
low complexity region	276	291	N/A	INTRINSIC
internal_repeat_1	442	821	1.71e-12	PROSPERO
internal_repeat_1	833	1197	1.71e-12	PROSPERO
CH	1212	1310	3.55e-16	SMART
low complexity region	1316	1331	N/A	INTRINSIC
low complexity region	1426	1449	N/A	INTRINSIC
low complexity region	1471	1484	N/A	INTRINSIC
low complexity region	1493	1547	N/A	INTRINSIC
DUF3585	1552	1696	6.7e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075606

SMART Domains

Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937

Domain	Start	End	E-Value	Type
Pfam:NT-C2	12	164	3.9e-25	PFAM
CH	268	366	3.55e-16	SMART
low complexity region	372	387	N/A	INTRINSIC
low complexity region	482	505	N/A	INTRINSIC
low complexity region	527	540	N/A	INTRINSIC
low complexity region	549	603	N/A	INTRINSIC
DUF3585	608	752	6.7e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099955
AA Change: S76T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000097538
Gene: ENSMUSG00000024939
AA Change: S76T

Domain	Start	End	E-Value	Type
low complexity region	9	37	N/A	INTRINSIC
Pfam:LURAP	70	152	3.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116558
AA Change: S76T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112257
Gene: ENSMUSG00000024939
AA Change: S76T

Domain	Start	End	E-Value	Type
low complexity region	9	37	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC
low complexity region	100	123	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159693

SMART Domains

Protein: ENSMUSP00000123867
Gene: ENSMUSG00000079478

Domain	Start	End	E-Value	Type
Pfam:Auto_anti-p27	33	59	1.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160852

SMART Domains

Protein: ENSMUSP00000125570
Gene: ENSMUSG00000079478

Domain	Start	End	E-Value	Type
Pfam:Auto_anti-p27	36	74	2.8e-20	PFAM
low complexity region	107	122	N/A	INTRINSIC
low complexity region	127	145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161368
AA Change: S76T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124294
Gene: ENSMUSG00000024939
AA Change: S76T

Domain	Start	End	E-Value	Type
low complexity region	9	37	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC
low complexity region	110	130	N/A	INTRINSIC
low complexity region	138	155	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162976

SMART Domains

Protein: ENSMUSP00000125679
Gene: ENSMUSG00000079478

Domain	Start	End	E-Value	Type
Pfam:Auto_anti-p27	1	28	1.3e-13	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	G	7: 78,749,115 (GRCm39)	S1295R	probably benign	Het
Acsf2	C	A	11: 94,463,963 (GRCm39)	V74L	probably benign	Het
Actrt3	T	C	3: 30,652,434 (GRCm39)	Y220C	probably damaging	Het
Adgrl2	A	G	3: 148,541,986 (GRCm39)		probably null	Het
Ak2	T	A	4: 128,901,961 (GRCm39)	D211E	possibly damaging	Het
Atp4b	G	A	8: 13,440,097 (GRCm39)	T83I	probably damaging	Het
Brat1	A	G	5: 140,703,912 (GRCm39)	T722A	probably benign	Het
Cfap65	T	C	1: 74,943,840 (GRCm39)	Y1557C	probably benign	Het
Cmya5	T	C	13: 93,231,935 (GRCm39)	D1051G	possibly damaging	Het
Cuedc2	A	G	19: 46,319,727 (GRCm39)		probably null	Het
Dtnb	A	T	12: 3,736,740 (GRCm39)	K293N	possibly damaging	Het
Dusp26	A	T	8: 31,584,198 (GRCm39)	T102S	probably benign	Het
Epg5	T	A	18: 78,024,170 (GRCm39)	L1079H	probably damaging	Het
Epha6	T	C	16: 60,026,065 (GRCm39)	Y459C	probably damaging	Het
Fbxo33	A	G	12: 59,251,682 (GRCm39)	S278P	probably damaging	Het
Fndc3a	C	A	14: 72,777,693 (GRCm39)	E1171*	probably null	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Il17ra	T	A	6: 120,458,466 (GRCm39)	I539N	probably damaging	Het
Khdc1c	T	G	1: 21,439,945 (GRCm39)	H165Q	probably benign	Het
Ldb1	A	G	19: 46,023,858 (GRCm39)		probably null	Het
Lrrc27	C	T	7: 138,806,229 (GRCm39)	A298V	probably benign	Het
Lsr	CTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTC	7: 30,657,492 (GRCm39)		probably benign	Het
Mpi	A	G	9: 57,452,606 (GRCm39)	C309R	probably damaging	Het
Mrtfa	G	A	15: 80,901,180 (GRCm39)	A472V	possibly damaging	Het
Mtcl3	C	A	10: 29,024,394 (GRCm39)	Q437K	probably benign	Het
Muc17	A	G	5: 137,167,127 (GRCm39)	Y276H		Het
Myh6	T	A	14: 55,194,056 (GRCm39)	M778L	probably benign	Het
Nmnat1	T	A	4: 149,553,338 (GRCm39)	E258V	probably damaging	Het
Or10ag53	T	C	2: 87,082,376 (GRCm39)	F32L	probably benign	Het
Or5b108	T	C	19: 13,168,769 (GRCm39)	V246A	probably damaging	Het
Pik3c2b	A	G	1: 133,022,487 (GRCm39)	E1143G	probably damaging	Het
Plch2	C	T	4: 155,082,912 (GRCm39)	D579N	probably damaging	Het
Slc22a19	T	C	19: 7,688,281 (GRCm39)	Q93R	probably benign	Het
Slc9c1	T	A	16: 45,400,616 (GRCm39)	I742N	probably damaging	Het
Smarcc2	A	G	10: 128,297,222 (GRCm39)	Y38C	probably damaging	Het
Strbp	T	C	2: 37,515,268 (GRCm39)	T253A	probably damaging	Het
Trim40	A	G	17: 37,199,902 (GRCm39)	S59P	possibly damaging	Het
Trpm6	G	T	19: 18,800,766 (GRCm39)	V827L	probably benign	Het
Unc5d	A	G	8: 29,156,792 (GRCm39)		probably null	Het
Vmn2r118	T	C	17: 55,918,009 (GRCm39)	T168A	probably damaging	Het
Wdfy4	G	A	14: 32,809,987 (GRCm39)	H1745Y		Het
Xrra1	A	G	7: 99,563,660 (GRCm39)	D549G	probably benign	Het
Zhx2	A	G	15: 57,686,806 (GRCm39)	E725G	probably benign	Het
Zzef1	G	A	11: 72,749,179 (GRCm39)	R889H	probably benign	Het

Other mutations in Fam89b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Fam89b	APN	19	5,779,397 (GRCm39)	missense	probably benign	0.00
IGL02323:Fam89b	APN	19	5,778,899 (GRCm39)	splice site	probably null
R1475:Fam89b	UTSW	19	5,779,447 (GRCm39)	missense	probably damaging	0.98
R3432:Fam89b	UTSW	19	5,781,761 (GRCm39)	splice site	probably null
R4770:Fam89b	UTSW	19	5,779,482 (GRCm39)	missense	probably damaging	0.98
R5393:Fam89b	UTSW	19	5,778,733 (GRCm39)	missense	probably damaging	1.00
R5408:Fam89b	UTSW	19	5,779,421 (GRCm39)	nonsense	probably null
R5427:Fam89b	UTSW	19	5,778,819 (GRCm39)	missense	probably benign
R6376:Fam89b	UTSW	19	5,778,757 (GRCm39)	missense	probably damaging	1.00
R7052:Fam89b	UTSW	19	5,779,276 (GRCm39)	missense	probably damaging	1.00
R8353:Fam89b	UTSW	19	5,778,903 (GRCm39)	missense	possibly damaging	0.82
R8453:Fam89b	UTSW	19	5,778,903 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TGACCAGATGCTTCCTGCTG -3'
(R):5'- GCCCGCTGAAAACGTAAGAG -3'

Sequencing Primer
(F):5'- CTTCCTGCTGGACCTGAGATGAG -3'
(R):5'- TGGCTATGAACGGGCTGC -3'

Posted On

2022-11-14