Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01013:Fam89b'

54094

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam89b

Ensembl Gene

ENSMUSG00000024939

Gene Name

family with sequence similarity 89, member B

Synonyms

Mtvr2, 1110021A21Rik, Fam89b

Accession Numbers

Essential gene?

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

Stock #

IGL01013

Quality Score

Status

Chromosome

Chromosomal Location

5778115-5779681 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5779397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 53 (D53E)

Ref Sequence

ENSEMBL: ENSMUSP00000112257 (fasta)

Gene Model

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

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: D53E

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

SMART Domains

Protein: ENSMUSP00000097538
Gene: ENSMUSG00000024939
AA Change: D53E

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: D53E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000112257
Gene: ENSMUSG00000024939
AA Change: D53E

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

noncoding transcript
Transcript: ENSMUST00000159008

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: ENSMUST00000161368
AA Change: D53E

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

SMART Domains

Protein: ENSMUSP00000124294
Gene: ENSMUSG00000024939
AA Change: D53E

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

noncoding transcript
Transcript: ENSMUST00000160141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162407

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: 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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 77,034,053 (GRCm39)	E499D	possibly damaging	Het
Abca1	A	T	4: 53,038,185 (GRCm39)	L2059*	probably null	Het
Ankar	T	A	1: 72,690,148 (GRCm39)	I1228F	possibly damaging	Het
Appl1	A	T	14: 26,671,433 (GRCm39)	Y340N	possibly damaging	Het
Atp8b4	C	A	2: 126,165,007 (GRCm39)	R1103L	probably benign	Het
B4galt6	A	G	18: 20,822,070 (GRCm39)	V308A	probably damaging	Het
Ccdc162	G	A	10: 41,457,335 (GRCm39)	P1534L	probably benign	Het
Ccdc78	A	G	17: 26,008,028 (GRCm39)	E313G	possibly damaging	Het
Cep57l1	G	A	10: 41,616,865 (GRCm39)	R141*	probably null	Het
Cpsf1	G	A	15: 76,483,497 (GRCm39)	Q883*	probably null	Het
Crot	A	G	5: 9,043,575 (GRCm39)	Y16H	probably benign	Het
Cyld	T	G	8: 89,468,990 (GRCm39)	L587R	probably damaging	Het
Fam114a1	G	A	5: 65,188,738 (GRCm39)		probably null	Het
Fig4	T	C	10: 41,143,782 (GRCm39)	M226V	probably benign	Het
Gm10722	A	T	9: 3,002,230 (GRCm39)	Y184F	probably damaging	Het
Hp	C	A	8: 110,305,653 (GRCm39)		probably benign	Het
Igsf9b	G	T	9: 27,245,600 (GRCm39)	R1189L	probably damaging	Het
Ilf3	A	G	9: 21,310,987 (GRCm39)	N620D	possibly damaging	Het
Jakmip3	A	C	7: 138,619,302 (GRCm39)	E228A	possibly damaging	Het
Kpna3	A	T	14: 61,607,966 (GRCm39)	I413K	probably damaging	Het
Letm1	A	T	5: 33,919,934 (GRCm39)	C202S	possibly damaging	Het
Lmod2	C	A	6: 24,604,134 (GRCm39)	Q370K	probably damaging	Het
Map4k5	T	C	12: 69,874,300 (GRCm39)		probably benign	Het
Mcidas	T	A	13: 113,134,119 (GRCm39)		probably benign	Het
Mme	A	G	3: 63,235,281 (GRCm39)		probably null	Het
Mrc1	T	C	2: 14,333,236 (GRCm39)	W1306R	probably damaging	Het
Mthfd1l	C	A	10: 3,980,716 (GRCm39)	Q473K	probably damaging	Het
Muc6	A	T	7: 141,234,333 (GRCm39)	C719*	probably null	Het
Nsun7	T	C	5: 66,440,944 (GRCm39)	I355T	possibly damaging	Het
Padi6	A	G	4: 140,456,314 (GRCm39)	L560P	probably damaging	Het
Parl	C	A	16: 20,101,540 (GRCm39)	A285S	possibly damaging	Het
Pclo	A	T	5: 14,843,848 (GRCm39)	M4795L	unknown	Het
Polr2f	A	G	15: 79,030,329 (GRCm39)	Y56C	probably damaging	Het
Rasgrp2	A	T	19: 6,454,413 (GRCm39)	H152L	probably damaging	Het
Rpl10l	T	C	12: 66,331,001 (GRCm39)	D44G	probably benign	Het
Slc25a16	A	G	10: 62,780,212 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,074,392 (GRCm39)	E1411K	probably damaging	Het
Tanc2	G	A	11: 105,515,891 (GRCm39)	R3Q	probably damaging	Het
Tbc1d32	G	T	10: 56,078,055 (GRCm39)		probably null	Het
Tcf7l2	T	C	19: 55,908,059 (GRCm39)		probably benign	Het
Tnrc6c	G	T	11: 117,612,855 (GRCm39)	V498L	probably benign	Het
Tymp	G	A	15: 89,260,513 (GRCm39)	H102Y	probably damaging	Het
Wdr76	T	C	2: 121,365,978 (GRCm39)	S492P	probably benign	Het
Zc3h12d	T	C	10: 7,715,720 (GRCm39)	I41T	probably damaging	Het

Other mutations in Fam89b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9742:Fam89b	UTSW	19	5,779,330 (GRCm39)	missense	probably benign	0.01

Posted On

2013-06-28