Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Fam187b'

263058

Institutional Source

Beutler Lab

Gene Symbol

Fam187b

Ensembl Gene

ENSMUSG00000046826

Gene Name

family with sequence similarity 187, member B

Synonyms

1700020B09Rik, Tmem162

MMRRC Submission

040580-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30673219-30689151 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30676665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 58 (D58G)

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

probably benign
Transcript: ENSMUST00000058093
AA Change: D58G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000057020
Gene: ENSMUSG00000046826
AA Change: D58G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206754

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,995,856 (GRCm39)	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,167,583 (GRCm39)		probably null	Het
Adamts17	T	A	7: 66,774,820 (GRCm39)	S980T	probably damaging	Het
Adarb1	C	A	10: 77,157,591 (GRCm39)	K285N	probably damaging	Het
Atp5f1c	A	G	2: 10,068,276 (GRCm39)	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Btf3	T	G	13: 98,447,496 (GRCm39)	E145D	probably benign	Het
Ccdc184	G	T	15: 98,066,482 (GRCm39)	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,751,573 (GRCm39)	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,481,248 (GRCm39)	Y332H	probably benign	Het
Clip2	T	C	5: 134,551,918 (GRCm39)	K68R	probably benign	Het
Cntln	C	T	4: 84,875,406 (GRCm39)	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,744,024 (GRCm39)	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246 (GRCm39)	L662F	probably benign	Het
Dennd3	C	A	15: 73,436,973 (GRCm39)	S118*	probably null	Het
Dgkg	T	A	16: 22,394,091 (GRCm39)	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,524,625 (GRCm39)	K249*	probably null	Het
Dzip1l	A	G	9: 99,529,174 (GRCm39)	E301G	probably benign	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Ezh1	A	C	11: 101,086,468 (GRCm39)	C575W	probably damaging	Het
Galnt4	T	C	10: 98,945,243 (GRCm39)	Y323H	probably benign	Het
Grm1	A	G	10: 10,955,601 (GRCm39)	S228P	probably benign	Het
H1f2	G	T	13: 23,922,883 (GRCm39)	A18S	unknown	Het
Hnf4g	T	G	3: 3,717,916 (GRCm39)	S388R	probably benign	Het
Il1rap	A	G	16: 26,541,502 (GRCm39)	E581G	probably benign	Het
Lemd2	C	A	17: 27,420,644 (GRCm39)	L256F	probably damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Nphs1	C	A	7: 30,166,965 (GRCm39)	S724*	probably null	Het
Or4g17	A	G	2: 111,209,840 (GRCm39)	N165S	probably benign	Het
Or5w13	T	C	2: 87,523,849 (GRCm39)	I126V	probably damaging	Het
Osgep	T	C	14: 51,154,286 (GRCm39)	T225A	probably benign	Het
Pan3	T	C	5: 147,476,189 (GRCm39)		probably benign	Het
Pld3	A	G	7: 27,235,212 (GRCm39)		probably null	Het
Plekha7	C	T	7: 115,763,639 (GRCm39)	R321K	probably benign	Het
Plekhg5	C	T	4: 152,196,635 (GRCm39)	T694M	probably damaging	Het
Pramel31	T	C	4: 144,088,246 (GRCm39)	V14A	probably benign	Het
Ptpn20	A	G	14: 33,334,253 (GRCm39)	I44V	probably benign	Het
Ptprj	T	A	2: 90,270,975 (GRCm39)	H1251L	probably damaging	Het
Sbspon	T	C	1: 15,962,806 (GRCm39)	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,539,753 (GRCm39)	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,241,203 (GRCm39)	T74A	probably benign	Het
Sppl2b	A	G	10: 80,703,325 (GRCm39)	E529G	probably benign	Het
Stradb	C	A	1: 59,031,450 (GRCm39)	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,574,357 (GRCm39)	C198*	probably null	Het
Tm4sf4	C	T	3: 57,345,043 (GRCm39)	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,939,019 (GRCm39)	S156G	probably damaging	Het
Tmem51	T	C	4: 141,765,035 (GRCm39)	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,801,124 (GRCm39)	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,067,133 (GRCm39)	L531S	probably damaging	Het
Tsga10	G	A	1: 37,840,872 (GRCm39)	L445F	probably damaging	Het
Urb1	C	T	16: 90,592,331 (GRCm39)	V310I	probably damaging	Het
Vmn2r129	T	A	4: 156,685,730 (GRCm39)		noncoding transcript	Het
Wdr19	T	C	5: 65,359,966 (GRCm39)	S24P	probably benign	Het

Other mutations in Fam187b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0131:Fam187b	UTSW	7	30,688,545 (GRCm39)	missense	probably damaging	1.00
R0131:Fam187b	UTSW	7	30,688,545 (GRCm39)	missense	probably damaging	1.00
R0132:Fam187b	UTSW	7	30,688,545 (GRCm39)	missense	probably damaging	1.00
R0594:Fam187b	UTSW	7	30,676,579 (GRCm39)	nonsense	probably null
R1728:Fam187b	UTSW	7	30,688,445 (GRCm39)	nonsense	probably null
R2965:Fam187b	UTSW	7	30,677,154 (GRCm39)	missense	probably benign	0.44
R3104:Fam187b	UTSW	7	30,676,665 (GRCm39)	missense	probably benign	0.00
R4607:Fam187b	UTSW	7	30,677,170 (GRCm39)	missense	probably benign	0.28
R4608:Fam187b	UTSW	7	30,677,170 (GRCm39)	missense	probably benign	0.28
R4612:Fam187b	UTSW	7	30,676,518 (GRCm39)	missense	possibly damaging	0.69
R4672:Fam187b	UTSW	7	30,676,968 (GRCm39)	missense	probably damaging	1.00
R4801:Fam187b	UTSW	7	30,676,515 (GRCm39)	missense	possibly damaging	0.84
R4802:Fam187b	UTSW	7	30,676,515 (GRCm39)	missense	possibly damaging	0.84
R4959:Fam187b	UTSW	7	30,681,687 (GRCm39)	missense	probably damaging	1.00
R5820:Fam187b	UTSW	7	30,676,577 (GRCm39)	missense	probably damaging	1.00
R6351:Fam187b	UTSW	7	30,677,024 (GRCm39)	missense	probably damaging	1.00
R6624:Fam187b	UTSW	7	30,676,612 (GRCm39)	missense	probably benign	0.26
R6823:Fam187b	UTSW	7	30,688,715 (GRCm39)	missense	probably benign	0.01
R7725:Fam187b	UTSW	7	30,677,139 (GRCm39)	missense	possibly damaging	0.91
R8686:Fam187b	UTSW	7	30,676,659 (GRCm39)	missense	probably benign	0.41
R9342:Fam187b	UTSW	7	30,677,185 (GRCm39)	nonsense	probably null
R9350:Fam187b	UTSW	7	30,677,037 (GRCm39)	missense	possibly damaging	0.79
R9403:Fam187b	UTSW	7	30,676,515 (GRCm39)	missense
R9443:Fam187b	UTSW	7	30,677,067 (GRCm39)	missense	probably damaging	1.00
X0063:Fam187b	UTSW	7	30,688,745 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGACGTCACAGTACCCAAGAAG -3'
(R):5'- TGATGTGCAACAGAGCTATGTTC -3'

Sequencing Primer
(F):5'- GTACCCAAGAAGGTTCTGAAGTTCC -3'
(R):5'- GCAACAGAGCTATGTTCTGAAAGTC -3'

Posted On

2015-02-05