Mutagenetix > Incidental Mutation

Incidental Mutation 'R9443:Fam187b'

713743

Institutional Source

Beutler Lab

Gene Symbol

Fam187b

Ensembl Gene

ENSMUSG00000046826

Gene Name

family with sequence similarity 187, member B

Synonyms

1700020B09Rik, Tmem162

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30673219-30689151 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30677067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 192 (E192V)

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 damaging
Transcript: ENSMUST00000058093
AA Change: E192V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057020
Gene: ENSMUSG00000046826
AA Change: E192V

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: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	T	C	3: 37,146,140 (GRCm39)	Y503H	probably benign	Het
Adck1	T	C	12: 88,338,550 (GRCm39)		probably null	Het
Afap1l1	T	C	18: 61,879,859 (GRCm39)	D337G	probably damaging	Het
Afg1l	G	A	10: 42,189,587 (GRCm39)	T448M	probably damaging	Het
Aqp6	T	C	15: 99,499,409 (GRCm39)	S41P		Het
Atad5	T	G	11: 80,023,388 (GRCm39)	V1500G	probably benign	Het
B3galt9	C	T	2: 34,728,623 (GRCm39)	Q141*	probably null	Het
Btbd18	T	A	2: 84,497,524 (GRCm39)	D387E	probably benign	Het
Catsperd	A	G	17: 56,969,720 (GRCm39)	N605D	possibly damaging	Het
Ccdc24	C	T	4: 117,728,355 (GRCm39)	V102I	probably benign	Het
Cenpe	T	A	3: 134,976,609 (GRCm39)	D2405E	probably damaging	Het
Cfap46	T	C	7: 139,195,023 (GRCm39)	D2249G		Het
Chrm1	A	T	19: 8,655,550 (GRCm39)	Y85F	possibly damaging	Het
Clstn3	C	T	6: 124,428,358 (GRCm39)	G465S	probably damaging	Het
Col7a1	G	A	9: 108,785,059 (GRCm39)	G262D	unknown	Het
Copg2	T	C	6: 30,750,578 (GRCm39)	T736A	probably benign	Het
Coro2b	T	C	9: 62,333,080 (GRCm39)	E435G	probably benign	Het
Cp	A	T	3: 20,033,083 (GRCm39)	I637F	possibly damaging	Het
Cpne7	T	C	8: 123,853,411 (GRCm39)	F239L	probably damaging	Het
Cstdc2	C	T	2: 148,689,878 (GRCm39)	E92K	probably damaging	Het
Cul2	T	A	18: 3,434,041 (GRCm39)	Y679*	probably null	Het
Dhx8	T	C	11: 101,655,740 (GRCm39)	Y1158H	probably damaging	Het
Eda	G	T	X: 99,019,775 (GRCm39)	R130L	unknown	Het
Elp6	T	A	9: 110,150,004 (GRCm39)	V265D	probably damaging	Het
Eomes	A	G	9: 118,313,640 (GRCm39)	T562A		Het
Foxi1	T	C	11: 34,155,671 (GRCm39)	T320A	probably benign	Het
Gga1	C	T	15: 78,765,247 (GRCm39)	T18I	possibly damaging	Het
Grik4	T	A	9: 42,571,037 (GRCm39)	M223L	probably benign	Het
Hdac7	T	C	15: 97,700,352 (GRCm39)	N594S	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Itpr3	T	G	17: 27,324,523 (GRCm39)	F1235C	probably damaging	Het
Klhdc4	A	G	8: 122,523,765 (GRCm39)	S484P	possibly damaging	Het
Kmt2c	A	G	5: 25,515,045 (GRCm39)	S2933P	probably damaging	Het
Lama5	T	A	2: 179,843,522 (GRCm39)	H475L	probably benign	Het
Ly6g6f	A	G	17: 35,299,826 (GRCm39)	L292P	possibly damaging	Het
Macf1	T	A	4: 123,365,668 (GRCm39)	Q3031L	probably benign	Het
Mbd5	T	G	2: 49,146,712 (GRCm39)	S307R	probably damaging	Het
Mertk	T	C	2: 128,604,029 (GRCm39)	F388L	probably benign	Het
Mmp11	A	G	10: 75,762,733 (GRCm39)	F240S	probably damaging	Het
Mroh1	T	A	15: 76,318,964 (GRCm39)	F949I	probably damaging	Het
Mroh2b	T	C	15: 4,973,821 (GRCm39)	L1113P	probably damaging	Het
Ndufv1	C	A	19: 4,057,614 (GRCm39)	A454S	probably benign	Het
Or13e8	A	G	4: 43,696,591 (GRCm39)	L194P	probably damaging	Het
Or56b2j	T	C	7: 104,352,821 (GRCm39)	S16P	probably benign	Het
Or5d46	T	A	2: 88,170,364 (GRCm39)	W152R	probably damaging	Het
Osbpl1a	C	A	18: 13,031,244 (GRCm39)	D329Y	probably benign	Het
Pcdh1	C	A	18: 38,330,633 (GRCm39)	R929L	probably damaging	Het
Phactr2	C	T	10: 13,122,841 (GRCm39)	R427K	probably benign	Het
Pip5k1c	T	C	10: 81,153,184 (GRCm39)	Y670H	probably damaging	Het
Plbd1	T	A	6: 136,611,555 (GRCm39)	N241Y	probably damaging	Het
Pmvk	C	A	3: 89,374,956 (GRCm39)	Q139K	probably benign	Het
Pramel30	T	A	4: 144,059,678 (GRCm39)	I463N	possibly damaging	Het
Rab3gap2	T	A	1: 184,967,523 (GRCm39)	C136S	probably damaging	Het
Rcor3	A	G	1: 191,786,050 (GRCm39)	V396A	probably damaging	Het
Rgs20	C	A	1: 4,982,629 (GRCm39)	E147*	probably null	Het
Rnf167	G	T	11: 70,540,777 (GRCm39)	L170F	probably damaging	Het
Scn9a	T	C	2: 66,395,553 (GRCm39)	T164A	probably damaging	Het
Skic3	A	G	13: 76,266,288 (GRCm39)	Q210R	probably benign	Het
Slc52a3	A	T	2: 151,846,299 (GRCm39)	I87F	probably benign	Het
Sntn	A	T	14: 13,682,364 (GRCm38)	M146L		Het
Svep1	C	T	4: 58,179,697 (GRCm39)	R182H	possibly damaging	Het
Taar7f	A	G	10: 23,926,311 (GRCm39)	I302V	probably benign	Het
Tm4sf20	T	C	1: 82,746,090 (GRCm39)	I17V	probably benign	Het
Traf1	T	C	2: 34,836,748 (GRCm39)	T270A	probably benign	Het
Trpm5	C	T	7: 142,638,860 (GRCm39)	E304K	probably benign	Het
Ttll8	T	C	15: 88,809,863 (GRCm39)	D311G	possibly damaging	Het
Unc79	T	A	12: 103,037,035 (GRCm39)	F608I	probably damaging	Het
Vmn2r11	A	T	5: 109,195,159 (GRCm39)	C722*	probably null	Het
Wdr7	A	G	18: 63,853,407 (GRCm39)	T36A	probably damaging	Het
Ybx2	C	T	11: 69,831,188 (GRCm39)	P261L		Het
Zfp101	C	T	17: 33,601,418 (GRCm39)	V113I	probably benign	Het
Zfp260	T	C	7: 29,804,249 (GRCm39)	S50P	probably benign	Het
Zfp319	A	T	8: 96,054,922 (GRCm39)	F427Y	probably benign	Het
Zfp369	T	C	13: 65,444,347 (GRCm39)	S497P	possibly damaging	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
R3106: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
X0063:Fam187b	UTSW	7	30,688,745 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CCAAGAGCCCATGGGAAATG -3'
(R):5'- ACTGGGTTTAGGTGAGGACC -3'

Sequencing Primer
(F):5'- AACCTGGGAGGCAAGGTTCTTG -3'
(R):5'- CTGGGTTTAGGTGAGGACCAAGAG -3'

Posted On

2022-06-15