Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02886:Fam187a'

363003

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam187a

Ensembl Gene

ENSMUSG00000075510

Gene Name

family with sequence similarity 187, member A

Synonyms

4933439F11Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02886

Quality Score

Status

Chromosome

Chromosomal Location

102775995-102777557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102777380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 395 (T395S)

Ref Sequence

ENSEMBL: ENSMUSP00000097938 (fasta)

Gene Model

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

AlphaFold

Q9D3R5

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 benign
Transcript: ENSMUST00000100369
AA Change: T395S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000097938
Gene: ENSMUSG00000075510
AA Change: T395S

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: ENSMUST00000159834

SMART Domains

Protein: ENSMUSP00000125214
Gene: ENSMUSG00000020930

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181125

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,921,863 (GRCm39)	C1140S	probably damaging	Het
Abhd12b	T	C	12: 70,229,740 (GRCm39)	I238T	possibly damaging	Het
Adgrb3	T	C	1: 25,543,991 (GRCm39)		probably null	Het
Baz2b	A	T	2: 59,788,087 (GRCm39)		probably null	Het
Brwd3	T	C	X: 107,794,454 (GRCm39)	Y1410C	probably damaging	Het
Casp7	T	A	19: 56,421,775 (GRCm39)	I71N	probably damaging	Het
Cspg4	A	T	9: 56,804,672 (GRCm39)	I1828F	probably damaging	Het
Cul2	T	C	18: 3,426,920 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,986,700 (GRCm39)	D5409G	possibly damaging	Het
Fcgr2b	A	G	1: 170,793,297 (GRCm39)	V244A	possibly damaging	Het
Fubp1	A	G	3: 151,926,392 (GRCm39)	E333G	possibly damaging	Het
Ganab	G	T	19: 8,888,391 (GRCm39)		probably benign	Het
Hpdl	A	G	4: 116,677,952 (GRCm39)	S170P	probably benign	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Klhl11	T	C	11: 100,363,047 (GRCm39)	S170G	possibly damaging	Het
Lrrc56	A	G	7: 140,777,090 (GRCm39)		probably benign	Het
Lrrd1	T	C	5: 3,901,534 (GRCm39)	V613A	probably benign	Het
Myo1e	T	C	9: 70,276,055 (GRCm39)	F757L	probably benign	Het
Myo5a	T	A	9: 75,059,169 (GRCm39)		probably benign	Het
Myocd	T	A	11: 65,069,569 (GRCm39)	D837V	probably damaging	Het
Naip6	T	C	13: 100,436,984 (GRCm39)	Q513R	possibly damaging	Het
Nol4l	A	G	2: 153,371,457 (GRCm39)	F76L	probably benign	Het
Or10ak7	T	C	4: 118,792,027 (GRCm39)	E6G	probably benign	Het
Or2b2b	T	A	13: 21,859,122 (GRCm39)		probably benign	Het
Or5b98	T	A	19: 12,931,882 (GRCm39)	S310T	probably benign	Het
Pck1	G	A	2: 172,996,649 (GRCm39)	E188K	probably benign	Het
Pdcd11	T	C	19: 47,102,064 (GRCm39)	V1083A	possibly damaging	Het
Primpol	G	A	8: 47,046,619 (GRCm39)	Q226*	probably null	Het
Rbm15	A	C	3: 107,233,611 (GRCm39)	V959G	probably benign	Het
Rorb	A	G	19: 18,954,943 (GRCm39)		probably null	Het
Spata9	T	C	13: 76,125,853 (GRCm39)	L112P	probably damaging	Het
Stk24	A	T	14: 121,529,527 (GRCm39)	L375Q	probably null	Het
Svip	A	G	7: 51,655,509 (GRCm39)	S11P	possibly damaging	Het
Taf13	T	C	3: 108,488,500 (GRCm39)		probably benign	Het
Tex30	T	C	1: 44,127,683 (GRCm39)	Y7C	probably damaging	Het
Tmem68	T	C	4: 3,569,361 (GRCm39)		probably benign	Het
Tnc	T	C	4: 63,918,344 (GRCm39)	E1189G	probably damaging	Het
Top2b	T	C	14: 16,365,688 (GRCm38)	S4P	possibly damaging	Het
Trav3-3	C	A	14: 53,903,822 (GRCm39)	L47I	probably benign	Het
Ttn	G	A	2: 76,733,557 (GRCm39)		probably benign	Het
Uroc1	A	G	6: 90,323,811 (GRCm39)		probably benign	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
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
R6011:Fam187a	UTSW	11	102,776,267 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-12-18