Mutagenetix > Incidental Mutation

Incidental Mutation 'R7223:Fam186b'

561976

Institutional Source

Beutler Lab

Gene Symbol

Fam186b

Ensembl Gene

ENSMUSG00000078907

Gene Name

family with sequence similarity 186, member B

Synonyms

EG545136

MMRRC Submission

045295-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99168899-99193769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99177718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 536 (E536G)

Ref Sequence

ENSEMBL: ENSMUSP00000104728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109100] [ENSMUST00000230608]

AlphaFold

D3Z420

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109100
AA Change: E536G

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: E536G

Domain	Start	End	E-Value	Type
Blast:FBG	12	193	1e-19	BLAST
low complexity region	354	363	N/A	INTRINSIC
low complexity region	478	493	N/A	INTRINSIC
low complexity region	508	522	N/A	INTRINSIC
low complexity region	789	810	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000230608

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,104,487 (GRCm39)	V733E	probably benign	Het
Adam34	A	T	8: 44,105,041 (GRCm39)	N201K	probably benign	Het
Aldh3b2	A	C	19: 4,029,592 (GRCm39)	S322R	probably damaging	Het
Anpep	A	T	7: 79,475,058 (GRCm39)	L914Q	probably damaging	Het
Arhgap30	T	C	1: 171,235,139 (GRCm39)	F535S	probably damaging	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Baz2a	G	T	10: 127,948,475 (GRCm39)	G252V	probably damaging	Het
Brinp3	T	A	1: 146,776,812 (GRCm39)	S420T	possibly damaging	Het
Carmil3	T	C	14: 55,733,695 (GRCm39)	F359S	possibly damaging	Het
Ccdc124	A	T	8: 71,321,170 (GRCm39)	L190Q	probably damaging	Het
Ccr6	T	C	17: 8,474,972 (GRCm39)	V59A	probably damaging	Het
Ccr8	T	A	9: 119,923,683 (GRCm39)	I266N	probably damaging	Het
Cdh23	T	A	10: 60,167,596 (GRCm39)	E1798V	probably damaging	Het
Cdk5rap2	T	C	4: 70,153,684 (GRCm39)	N1713S	probably benign	Het
Cep19	T	A	16: 31,922,833 (GRCm39)	I33N	probably damaging	Het
Cers3	A	T	7: 66,433,163 (GRCm39)	Y196F	probably damaging	Het
Cidea	T	C	18: 67,499,491 (GRCm39)	I126T	probably damaging	Het
Copg2	A	T	6: 30,789,689 (GRCm39)	Y546*	probably null	Het
Cul3	A	T	1: 80,264,717 (GRCm39)	V261E	probably benign	Het
Cyp2g1	A	T	7: 26,514,057 (GRCm39)	D221V	probably damaging	Het
Cyp8b1	G	A	9: 121,744,163 (GRCm39)	H390Y	probably damaging	Het
Daam1	T	C	12: 72,035,717 (GRCm39)	F971L	probably damaging	Het
Dnajc24	G	A	2: 105,832,311 (GRCm39)	S24L	possibly damaging	Het
Dpysl3	T	C	18: 43,571,107 (GRCm39)	S56G	probably benign	Het
Esp1	A	G	17: 41,041,972 (GRCm39)	D88G	probably benign	Het
Fam171b	A	G	2: 83,708,574 (GRCm39)	T359A	probably damaging	Het
Fbxo3	T	C	2: 103,873,357 (GRCm39)	V156A	possibly damaging	Het
Gls2	C	A	10: 128,035,063 (GRCm39)	H65Q	probably benign	Het
Gp2	A	G	7: 119,050,721 (GRCm39)		probably null	Het
Gpcpd1	T	A	2: 132,375,976 (GRCm39)	K435I	probably benign	Het
Gpx6	T	A	13: 21,501,840 (GRCm39)		probably null	Het
Hps3	A	T	3: 20,084,583 (GRCm39)	S202T	probably benign	Het
Htr1d	T	A	4: 136,170,812 (GRCm39)	L347H	probably damaging	Het
Igfals	T	C	17: 25,100,208 (GRCm39)	L433P	probably damaging	Het
Ilvbl	C	T	10: 78,419,530 (GRCm39)	H537Y	probably benign	Het
Iqgap2	A	T	13: 95,765,480 (GRCm39)	M1530K	probably damaging	Het
Jarid2	A	G	13: 45,049,798 (GRCm39)	T247A	possibly damaging	Het
L3hypdh	C	T	12: 72,120,783 (GRCm39)	V323I	possibly damaging	Het
Lama3	C	T	18: 12,715,665 (GRCm39)	T1707I	possibly damaging	Het
Map6	G	T	7: 98,917,232 (GRCm39)	A2S	probably damaging	Het
Mfap3	T	A	11: 57,421,066 (GRCm39)	I349K	probably benign	Het
Mybl2	A	G	2: 162,914,625 (GRCm39)	T248A	probably benign	Het
N6amt1	A	G	16: 87,159,548 (GRCm39)	*151W	probably null	Het
Nhlrc1	A	G	13: 47,167,684 (GRCm39)	V191A	probably benign	Het
Nkx2-5	T	C	17: 27,058,594 (GRCm39)	E120G	possibly damaging	Het
Or2y10	T	A	11: 49,454,925 (GRCm39)	M59K	probably damaging	Het
Or52r1b	C	A	7: 102,690,839 (GRCm39)	T46N	possibly damaging	Het
Or8b41	T	C	9: 38,055,049 (GRCm39)	V201A	probably benign	Het
Or8k28	T	A	2: 86,286,211 (GRCm39)	I135F	possibly damaging	Het
Pcdha8	T	G	18: 37,126,201 (GRCm39)	L228V	probably benign	Het
Pcsk2	A	G	2: 143,532,253 (GRCm39)	T134A	possibly damaging	Het
Phldb3	G	A	7: 24,324,078 (GRCm39)	R484Q	probably benign	Het
Pipox	A	G	11: 77,772,012 (GRCm39)	S371P	probably damaging	Het
Plekhg1	T	C	10: 3,823,343 (GRCm39)	S159P		Het
Psme4	C	T	11: 30,824,226 (GRCm39)	P1737S	probably benign	Het
Pygm	G	A	19: 6,438,893 (GRCm39)	D328N	probably benign	Het
Rabgef1	A	T	5: 130,219,801 (GRCm39)	E88V	probably benign	Het
Rims2	G	T	15: 39,300,428 (GRCm39)	R245L	probably benign	Het
Slc38a4	T	C	15: 96,908,226 (GRCm39)	I172V	probably damaging	Het
Slc4a10	T	A	2: 62,099,009 (GRCm39)	Y586N	probably damaging	Het
Snap91	C	T	9: 86,761,610 (GRCm39)		probably benign	Het
Sorcs1	C	T	19: 50,178,480 (GRCm39)	V881I	probably benign	Het
Spef2	A	T	15: 9,601,726 (GRCm39)	V1512E	unknown	Het
Sufu	T	C	19: 46,441,716 (GRCm39)	I292T	possibly damaging	Het
Tet1	T	C	10: 62,649,450 (GRCm39)	N87D	possibly damaging	Het
Tmem108	T	C	9: 103,376,733 (GRCm39)	T239A	not run	Het
Tmem121	A	T	12: 113,152,114 (GRCm39)	K111*	probably null	Het
Tpp2	T	A	1: 44,008,048 (GRCm39)	D417E	probably damaging	Het
Tpr	G	A	1: 150,315,007 (GRCm39)	E2025K	possibly damaging	Het
Trappc3	C	T	4: 126,168,945 (GRCm39)	A145V	possibly damaging	Het
Ttn	T	C	2: 76,721,325 (GRCm39)	D6754G	probably null	Het
Unc13c	T	A	9: 73,536,473 (GRCm39)	M1627L	probably benign	Het
Ush2a	A	G	1: 188,542,414 (GRCm39)	I3327V	probably benign	Het
Vmn1r74	C	T	7: 11,580,894 (GRCm39)	Q65*	probably null	Het
Wdr18	G	A	10: 79,796,202 (GRCm39)	R69H	probably damaging	Het
Zbed5	G	T	5: 129,929,279 (GRCm39)	D132Y	probably damaging	Het
Zfp644	A	T	5: 106,785,448 (GRCm39)	Y366*	probably null	Het
Zfyve26	T	C	12: 79,292,945 (GRCm39)	N2068S	probably damaging	Het
Zic2	T	C	14: 122,713,503 (GRCm39)	F139S	probably damaging	Het
Zmynd11	T	C	13: 9,760,198 (GRCm39)	Q141R	probably benign	Het
Zrsr2-ps1	A	G	11: 22,923,388 (GRCm39)	E54G	probably benign	Het
Zscan10	G	A	17: 23,828,456 (GRCm39)	D333N	probably benign	Het

Other mutations in Fam186b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Fam186b	APN	15	99,178,199 (GRCm39)	missense	probably benign	0.00
IGL01729:Fam186b	APN	15	99,178,132 (GRCm39)	missense	probably benign	0.02
IGL01948:Fam186b	APN	15	99,178,327 (GRCm39)	missense	probably benign	0.00
IGL02133:Fam186b	APN	15	99,171,584 (GRCm39)	missense	probably damaging	0.96
IGL03010:Fam186b	APN	15	99,178,508 (GRCm39)	missense	possibly damaging	0.80
IGL03371:Fam186b	APN	15	99,178,258 (GRCm39)	missense	probably benign	0.00
R0457:Fam186b	UTSW	15	99,169,166 (GRCm39)	missense	probably benign	0.02
R0522:Fam186b	UTSW	15	99,178,400 (GRCm39)	missense	probably benign	0.00
R0571:Fam186b	UTSW	15	99,184,834 (GRCm39)	missense	probably benign	0.02
R0620:Fam186b	UTSW	15	99,178,009 (GRCm39)	missense	probably benign	0.34
R1575:Fam186b	UTSW	15	99,184,852 (GRCm39)	missense	probably benign	0.00
R1883:Fam186b	UTSW	15	99,176,679 (GRCm39)	missense	probably damaging	0.96
R2144:Fam186b	UTSW	15	99,178,538 (GRCm39)	missense	probably benign	0.00
R2267:Fam186b	UTSW	15	99,183,524 (GRCm39)	missense	probably damaging	0.99
R2332:Fam186b	UTSW	15	99,178,309 (GRCm39)	missense	probably benign	0.42
R2394:Fam186b	UTSW	15	99,178,058 (GRCm39)	missense	probably benign	0.01
R3624:Fam186b	UTSW	15	99,178,396 (GRCm39)	missense	probably benign	0.01
R4681:Fam186b	UTSW	15	99,178,771 (GRCm39)	missense	probably benign	0.00
R4811:Fam186b	UTSW	15	99,178,118 (GRCm39)	missense	probably benign	0.01
R4906:Fam186b	UTSW	15	99,169,202 (GRCm39)	missense	probably damaging	0.99
R5028:Fam186b	UTSW	15	99,178,682 (GRCm39)	missense	probably damaging	0.99
R5047:Fam186b	UTSW	15	99,178,567 (GRCm39)	missense	probably damaging	1.00
R5295:Fam186b	UTSW	15	99,181,755 (GRCm39)	missense	probably damaging	1.00
R5440:Fam186b	UTSW	15	99,171,734 (GRCm39)	missense	possibly damaging	0.75
R5468:Fam186b	UTSW	15	99,176,751 (GRCm39)	missense	possibly damaging	0.93
R5596:Fam186b	UTSW	15	99,169,170 (GRCm39)	missense	possibly damaging	0.90
R5759:Fam186b	UTSW	15	99,177,598 (GRCm39)	missense	probably benign	0.09
R6239:Fam186b	UTSW	15	99,178,315 (GRCm39)	missense	probably benign
R7117:Fam186b	UTSW	15	99,183,471 (GRCm39)	missense	probably damaging	0.98
R7141:Fam186b	UTSW	15	99,181,773 (GRCm39)	missense	probably benign	0.03
R7301:Fam186b	UTSW	15	99,176,629 (GRCm39)	missense	probably benign	0.00
R7441:Fam186b	UTSW	15	99,177,970 (GRCm39)	missense	probably benign	0.00
R7614:Fam186b	UTSW	15	99,184,867 (GRCm39)	missense	probably damaging	1.00
R7825:Fam186b	UTSW	15	99,181,728 (GRCm39)	missense	not run
R7853:Fam186b	UTSW	15	99,178,628 (GRCm39)	missense	probably damaging	1.00
R8340:Fam186b	UTSW	15	99,177,595 (GRCm39)	missense	probably benign	0.02
R8523:Fam186b	UTSW	15	99,177,613 (GRCm39)	missense	probably benign	0.00
R8821:Fam186b	UTSW	15	99,178,733 (GRCm39)	missense	possibly damaging	0.69
R8939:Fam186b	UTSW	15	99,177,223 (GRCm39)	missense	probably benign	0.00
R9016:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9018:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9305:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9341:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9343:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9343:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9345:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9346:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9450:Fam186b	UTSW	15	99,183,425 (GRCm39)	missense	probably damaging	0.97
R9464:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9517:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9521:Fam186b	UTSW	15	99,178,419 (GRCm39)	missense	probably benign	0.00
R9563:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9565:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9565:Fam186b	UTSW	15	99,176,685 (GRCm39)	missense	probably damaging	1.00
R9568:Fam186b	UTSW	15	99,176,571 (GRCm39)	missense	probably damaging	1.00
R9652:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9653:Fam186b	UTSW	15	99,177,616 (GRCm39)	missense	probably damaging	0.99
R9727:Fam186b	UTSW	15	99,171,669 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAACTCAGCTGAACCCAGGG -3'
(R):5'- TGTTCGTTGACCGCACAGAG -3'

Sequencing Primer
(F):5'- TGAACCCAGGGTCCTCTG -3'
(R):5'- AGGCTTCTGGAGAGCCACATG -3'

Posted On

2019-06-26