Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Fam187b'

711342

Institutional Source

Beutler Lab

Gene Symbol

Fam187b

Ensembl Gene

ENSMUSG00000046826

Gene Name

family with sequence similarity 187, member B

Synonyms

1700020B09Rik, Tmem162

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R9403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30973790-30989726 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30977090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 8 (V8A)

Ref Sequence

ENSEMBL: ENSMUSP00000057020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001279] [ENSMUST00000058093] [ENSMUST00000098553] [ENSMUST00000108116] [ENSMUST00000128384] [ENSMUST00000129773] [ENSMUST00000147431] [ENSMUST00000205961]

AlphaFold

Q0VAY3

Predicted Effect

probably benign
Transcript: ENSMUST00000001279

SMART Domains

Protein: ENSMUSP00000001279
Gene: ENSMUSG00000001247

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
IG	43	186	1.23e-3	SMART
Pfam:LSR	206	253	9.6e-27	PFAM
low complexity region	280	296	N/A	INTRINSIC
low complexity region	445	464	N/A	INTRINSIC
low complexity region	468	487	N/A	INTRINSIC
low complexity region	496	513	N/A	INTRINSIC
low complexity region	544	558	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000057020
Gene: ENSMUSG00000046826
AA Change: V8A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Blast:IG	27	116	4e-30	BLAST
Blast:IG_like	223	290	4e-6	BLAST
transmembrane domain	324	343	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098553

SMART Domains

Protein: ENSMUSP00000096153
Gene: ENSMUSG00000001247

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
IG	43	186	1.23e-3	SMART
low complexity region	212	228	N/A	INTRINSIC
low complexity region	377	396	N/A	INTRINSIC
low complexity region	400	419	N/A	INTRINSIC
low complexity region	428	445	N/A	INTRINSIC
low complexity region	476	490	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108116

SMART Domains

Protein: ENSMUSP00000103751
Gene: ENSMUSG00000001247

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
IG	43	186	1.23e-3	SMART
Pfam:LSR	187	235	2.3e-25	PFAM
low complexity region	261	277	N/A	INTRINSIC
low complexity region	426	445	N/A	INTRINSIC
low complexity region	449	468	N/A	INTRINSIC
low complexity region	477	494	N/A	INTRINSIC
low complexity region	525	539	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128384

SMART Domains

Protein: ENSMUSP00000144424
Gene: ENSMUSG00000046826

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Blast:IG	45	133	2e-17	BLAST
SCOP:d1wiu__	53	125	1e-3	SMART
IG_like	238	306	1.9e-2	SMART
transmembrane domain	340	359	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129773

SMART Domains

Protein: ENSMUSP00000144533
Gene: ENSMUSG00000046826

Domain	Start	End	E-Value	Type
transmembrane domain	61	80	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147431

SMART Domains

Protein: ENSMUSP00000123487
Gene: ENSMUSG00000001247

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
low complexity region	230	249	N/A	INTRINSIC
low complexity region	253	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205961

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,299	T255P	probably benign	Het
4930444G20Rik	C	T	10: 22,067,941	D47N	possibly damaging	Het
Angpt4	C	T	2: 151,938,972	T380M	probably damaging	Het
Apoa5	G	C	9: 46,270,646	R340P	probably damaging	Het
Cyp3a41a	T	A	5: 145,702,198	Y320F	probably damaging	Het
Dmtf1	A	G	5: 9,121,927	L503S	possibly damaging	Het
Dock1	T	C	7: 135,168,396	V1795A	probably benign	Het
Dpys	C	G	15: 39,828,071	W285S	probably damaging	Het
Fbn2	T	C	18: 58,066,107	E1363G	probably damaging	Het
Glg1	C	T	8: 111,187,793	R453Q	probably benign	Het
Gm5591	T	A	7: 38,520,148	M434L	probably benign	Het
Gm5591	T	C	7: 38,522,256	T130A	probably damaging	Het
Gpld1	G	A	13: 24,979,729	V502I	probably benign	Het
Inhba	A	G	13: 16,017,381	H29R	probably benign	Het
Itga4	T	A	2: 79,325,660	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,543,077	I280L	probably benign	Het
Malrd1	T	C	2: 15,614,177	V284A		Het
Maml2	C	T	9: 13,621,673	Q728*	probably null	Het
Mkln1	T	C	6: 31,432,970	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204		probably null	Het
Muc16	A	G	9: 18,537,764		probably null	Het
Mylk	C	A	16: 34,875,642	S249*	probably null	Het
Naa35	G	A	13: 59,601,003	A150T	possibly damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Nup205	G	A	6: 35,199,974	R635H	probably benign	Het
Olfr263	T	C	13: 21,133,695	F307L	probably benign	Het
Olfr723	T	C	14: 49,929,449	T32A	probably benign	Het
Padi3	T	C	4: 140,810,532	I26V	probably benign	Het
Polq	T	C	16: 37,061,853	S1460P	probably benign	Het
Ptgdr	A	G	14: 44,853,258	S348P		Het
Qsox1	A	G	1: 155,782,597	S409P	probably damaging	Het
Rergl	T	A	6: 139,494,854	Y99F	possibly damaging	Het
Rptn	C	A	3: 93,395,042	H22N	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,467,573		probably null	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,467,575		probably benign	Het
Slc2a3	A	C	6: 122,736,610	I214M	probably damaging	Het
Slc5a7	A	T	17: 54,276,641	N540K	probably benign	Het
Slco6c1	A	T	1: 97,062,523	S664R	possibly damaging	Het
Tgm4	C	A	9: 123,052,772	S344R	probably damaging	Het
Trim61	T	A	8: 65,014,576	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,832,652	D1137E	possibly damaging	Het
Txndc2	G	A	17: 65,637,997	T395I	probably damaging	Het
Txndc9	T	C	1: 37,995,778	E15G	probably benign	Het
Vcpip1	A	G	1: 9,745,824	I778T	possibly damaging	Het
Zfp383	T	C	7: 29,915,259	F313S	possibly damaging	Het

Other mutations in Fam187b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0131:Fam187b	UTSW	7	30989120	missense	probably damaging	1.00
R0131:Fam187b	UTSW	7	30989120	missense	probably damaging	1.00
R0132:Fam187b	UTSW	7	30989120	missense	probably damaging	1.00
R0594:Fam187b	UTSW	7	30977154	nonsense	probably null
R1728:Fam187b	UTSW	7	30989020	nonsense	probably null
R2965:Fam187b	UTSW	7	30977729	missense	probably benign	0.44
R3104:Fam187b	UTSW	7	30977240	missense	probably benign	0.00
R3106:Fam187b	UTSW	7	30977240	missense	probably benign	0.00
R4607:Fam187b	UTSW	7	30977745	missense	probably benign	0.28
R4608:Fam187b	UTSW	7	30977745	missense	probably benign	0.28
R4612:Fam187b	UTSW	7	30977093	missense	possibly damaging	0.69
R4672:Fam187b	UTSW	7	30977543	missense	probably damaging	1.00
R4801:Fam187b	UTSW	7	30977090	missense	possibly damaging	0.84
R4802:Fam187b	UTSW	7	30977090	missense	possibly damaging	0.84
R4959:Fam187b	UTSW	7	30982262	missense	probably damaging	1.00
R5820:Fam187b	UTSW	7	30977152	missense	probably damaging	1.00
R6351:Fam187b	UTSW	7	30977599	missense	probably damaging	1.00
R6624:Fam187b	UTSW	7	30977187	missense	probably benign	0.26
R6823:Fam187b	UTSW	7	30989290	missense	probably benign	0.01
R7725:Fam187b	UTSW	7	30977714	missense	possibly damaging	0.91
R8686:Fam187b	UTSW	7	30977234	missense	probably benign	0.41
R9342:Fam187b	UTSW	7	30977760	nonsense	probably null
R9350:Fam187b	UTSW	7	30977612	missense	possibly damaging	0.79
R9443:Fam187b	UTSW	7	30977642	missense	probably damaging	1.00
X0063:Fam187b	UTSW	7	30989320	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCAAATAATTCTATTTCCTGGGGAC -3'
(R):5'- GTTGACCAGGGACAGTTTGTC -3'

Sequencing Primer
(F):5'- CGCATATAGGTCTGTGCATCAC -3'
(R):5'- GACAGTTTGTCCTCTAAAGATGAAG -3'

Posted On

2022-05-16