Mutagenetix > Incidental Mutation

Incidental Mutation 'R6011:Fam187a'

479762

Institutional Source

Beutler Lab

Gene Symbol

Fam187a

Ensembl Gene

ENSMUSG00000075510

Gene Name

family with sequence similarity 187, member A

Synonyms

4933439F11Rik

MMRRC Submission

043253-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R6011 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102775995-102777557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102776267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 24 (K24E)

Ref Sequence

ENSEMBL: ENSMUSP00000097938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021306] [ENSMUST00000021307] [ENSMUST00000067444] [ENSMUST00000077902] [ENSMUST00000100369] [ENSMUST00000107060] [ENSMUST00000159834]

AlphaFold

Q9D3R5

Predicted Effect

probably benign
Transcript: ENSMUST00000021306

SMART Domains

Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929

Domain	Start	End	E-Value	Type
Pfam:EFTUD2	3	110	1.1e-42	PFAM
Pfam:GTP_EFTU	127	440	9.6e-47	PFAM
Pfam:GTP_EFTU_D2	489	566	3.8e-15	PFAM
Pfam:EFG_II	584	656	9.9e-11	PFAM
EFG_IV	703	824	1.1e-16	SMART
EFG_C	826	915	1.14e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021307

SMART Domains

Protein: ENSMUSP00000021307
Gene: ENSMUSG00000020930

Domain	Start	End	E-Value	Type
Pfam:Dynein_attach_N	7	74	3.3e-32	PFAM
Pfam:RPAP3_C	98	188	1.2e-19	PFAM
low complexity region	219	233	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000067444

SMART Domains

Protein: ENSMUSP00000064691
Gene: ENSMUSG00000020932

Domain	Start	End	E-Value	Type
Pfam:Filament_head	2	64	1.7e-8	PFAM
Filament	65	373	2.34e-136	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077902

SMART Domains

Protein: ENSMUSP00000077061
Gene: ENSMUSG00000020932

Domain	Start	End	E-Value	Type
Pfam:Filament_head	1	64	1.6e-7	PFAM
Pfam:Filament	65	373	1e-112	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100369
AA Change: K24E

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

SMART Domains

Protein: ENSMUSP00000097938
Gene: ENSMUSG00000075510
AA Change: K24E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	39	142	3.73e0	SMART
IG_like	275	361	1.61e1	SMART
transmembrane domain	377	399	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107060

SMART Domains

Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929

Domain	Start	End	E-Value	Type
low complexity region	16	26	N/A	INTRINSIC
low complexity region	32	50	N/A	INTRINSIC
Pfam:GTP_EFTU	126	439	9.6e-44	PFAM
Pfam:Miro	130	260	2.5e-6	PFAM
Pfam:GTP_EFTU_D2	488	565	7.9e-13	PFAM
Pfam:EFG_II	583	655	8.2e-10	PFAM
EFG_IV	702	823	1.1e-16	SMART
EFG_C	825	914	1.14e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148209

Predicted Effect

probably benign
Transcript: ENSMUST00000159834

SMART Domains

Protein: ENSMUSP00000125214
Gene: ENSMUSG00000020930

Domain	Start	End	E-Value	Type
coiled coil region	8	33	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,136,570 (GRCm39)	N533K	probably benign	Het
Adamts15	G	T	9: 30,814,082 (GRCm39)	H694Q	probably damaging	Het
Adcy5	T	C	16: 34,977,598 (GRCm39)	L377P	probably benign	Het
Add2	T	C	6: 86,075,607 (GRCm39)	L252P	probably damaging	Het
Amer1	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 94,470,889 (GRCm39)		probably benign	Het
Ankrd13d	A	G	19: 4,331,962 (GRCm39)	L39P	probably damaging	Het
Asic1	G	T	15: 99,596,960 (GRCm39)	A541S	probably benign	Het
Bhmt1b	A	G	18: 87,774,663 (GRCm39)	E62G	probably damaging	Het
Bpifb2	A	G	2: 153,731,496 (GRCm39)		probably null	Het
Catsper3	A	G	13: 55,934,305 (GRCm39)	I75M	probably damaging	Het
Ccser2	T	C	14: 36,601,532 (GRCm39)	E837G	probably benign	Het
Clasp2	C	T	9: 113,705,315 (GRCm39)	P557L	probably benign	Het
Clstn2	C	T	9: 97,338,579 (GRCm39)	R860Q	probably benign	Het
Cplx3	A	T	9: 57,523,038 (GRCm39)	D140E	probably damaging	Het
Cyp2c66	A	G	19: 39,130,380 (GRCm39)	K72E	probably benign	Het
Cyp3a44	A	G	5: 145,738,084 (GRCm39)		probably null	Het
Disp2	G	A	2: 118,621,301 (GRCm39)	V678I	possibly damaging	Het
Dock4	T	C	12: 40,867,756 (GRCm39)		probably null	Het
Eml3	T	C	19: 8,916,471 (GRCm39)	Y688H	probably damaging	Het
Fhit	T	C	14: 9,870,068 (GRCm38)	K134E	probably benign	Het
Foxl3	A	G	5: 138,807,374 (GRCm39)	*217W	probably null	Het
Gm16485	A	T	9: 8,972,454 (GRCm39)		probably benign	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Hmgxb3	G	A	18: 61,296,096 (GRCm39)	T304I	probably damaging	Het
Lgsn	A	G	1: 31,242,847 (GRCm39)	S310G	probably damaging	Het
Muc21	T	A	17: 35,933,074 (GRCm39)		probably benign	Het
Niban2	T	C	2: 32,812,877 (GRCm39)	Y482H	probably damaging	Het
Or12e13	A	G	2: 87,664,259 (GRCm39)	N292S	probably damaging	Het
Or4k42	C	A	2: 111,320,192 (GRCm39)	A104S	probably benign	Het
Or6c8b	A	T	10: 128,882,508 (GRCm39)	H141Q	probably benign	Het
Or7g25	T	A	9: 19,159,807 (GRCm39)	E296V	probably damaging	Het
Or9i1b	G	A	19: 13,896,521 (GRCm39)	V46I	probably benign	Het
Pelo	A	G	13: 115,226,302 (GRCm39)	S52P	probably benign	Het
Prune2	A	G	19: 17,096,080 (GRCm39)	N528S	probably benign	Het
Rfc3	T	A	5: 151,567,184 (GRCm39)	I291L	probably damaging	Het
Rpl35	A	T	2: 38,894,813 (GRCm39)		probably null	Het
Sectm1b	C	T	11: 120,946,704 (GRCm39)	V64I	possibly damaging	Het
Serpina12	A	G	12: 104,001,993 (GRCm39)	M241T	probably damaging	Het
Serpina1a	T	A	12: 103,823,728 (GRCm39)	D195V	probably damaging	Het
Sesn2	C	T	4: 132,226,708 (GRCm39)	V129M	probably damaging	Het
Slc4a1	A	C	11: 102,243,357 (GRCm39)	V758G	probably damaging	Het
Tmx4	A	T	2: 134,481,756 (GRCm39)	Y56N	probably damaging	Het
Traj50	T	C	14: 54,405,091 (GRCm39)		probably benign	Het
Trio	T	G	15: 27,735,631 (GRCm39)	K2820Q	probably damaging	Het
Ttc28	G	A	5: 111,434,309 (GRCm39)	G2417S	probably benign	Het
Usp32	T	C	11: 84,922,923 (GRCm39)	D665G	possibly damaging	Het

Other mutations in Fam187a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02569:Fam187a	APN	11	102,776,985 (GRCm39)	missense	probably benign	0.04
IGL02886:Fam187a	APN	11	102,777,380 (GRCm39)	missense	probably benign	0.00
R1735:Fam187a	UTSW	11	102,776,606 (GRCm39)	missense	probably damaging	1.00
R1864:Fam187a	UTSW	11	102,776,837 (GRCm39)	missense	probably damaging	1.00
R2258:Fam187a	UTSW	11	102,776,124 (GRCm39)	unclassified	probably benign
R2259:Fam187a	UTSW	11	102,776,124 (GRCm39)	unclassified	probably benign
R2424:Fam187a	UTSW	11	102,776,780 (GRCm39)	missense	probably damaging	1.00
R3753:Fam187a	UTSW	11	102,776,675 (GRCm39)	missense	probably benign	0.00
R4206:Fam187a	UTSW	11	102,777,038 (GRCm39)	missense	probably damaging	0.97
R5176:Fam187a	UTSW	11	102,777,290 (GRCm39)	missense	probably damaging	0.99
R6520:Fam187a	UTSW	11	102,776,701 (GRCm39)	missense	possibly damaging	0.52
R6683:Fam187a	UTSW	11	102,777,015 (GRCm39)	missense	probably damaging	1.00
R7309:Fam187a	UTSW	11	102,776,832 (GRCm39)	missense	probably damaging	1.00
R7605:Fam187a	UTSW	11	102,776,874 (GRCm39)	missense	possibly damaging	0.58
R8352:Fam187a	UTSW	11	102,777,400 (GRCm39)	nonsense	probably null
R8452:Fam187a	UTSW	11	102,777,400 (GRCm39)	nonsense	probably null
R9043:Fam187a	UTSW	11	102,776,685 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TAAATCACCTCGCCCTTGGC -3'
(R):5'- CAAAGTCTGTGAGCACCGTG -3'

Sequencing Primer
(F):5'- CGCCTCTGCAGTTCACTG -3'
(R):5'- CCGTGGTGCGCTTGCTC -3'

Posted On

2017-06-26