Mutagenetix > Incidental Mutation

Incidental Mutation 'R7033:Fam110a'

546432

Institutional Source

Beutler Lab

Gene Symbol

Fam110a

Ensembl Gene

ENSMUSG00000027459

Gene Name

family with sequence similarity 110, member A

Synonyms

1700008J10Rik, 5430432M24Rik

MMRRC Submission

045134-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R7033 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

151811318-151822096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 151812131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 213 (D213G)

Ref Sequence

ENSEMBL: ENSMUSP00000105491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062047] [ENSMUST00000109863] [ENSMUST00000109864] [ENSMUST00000109865]

AlphaFold

Q8R184

Predicted Effect

probably damaging
Transcript: ENSMUST00000062047
AA Change: D213G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053266
Gene: ENSMUSG00000027459
AA Change: D213G

Domain	Start	End	E-Value	Type
Pfam:FAM110_N	4	103	1.8e-39	PFAM
low complexity region	137	155	N/A	INTRINSIC
Pfam:FAM110_C	182	288	4.8e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109863
AA Change: D213G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105489
Gene: ENSMUSG00000027459
AA Change: D213G

Domain	Start	End	E-Value	Type
Pfam:FAM110_N	2	104	3.9e-41	PFAM
low complexity region	137	155	N/A	INTRINSIC
Pfam:FAM110_C	180	289	1.7e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109864
AA Change: D213G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105490
Gene: ENSMUSG00000027459
AA Change: D213G

Domain	Start	End	E-Value	Type
Pfam:FAM110_N	2	104	3.9e-41	PFAM
low complexity region	137	155	N/A	INTRINSIC
Pfam:FAM110_C	180	289	1.7e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109865
AA Change: D213G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105491
Gene: ENSMUSG00000027459
AA Change: D213G

Domain	Start	End	E-Value	Type
Pfam:FAM110_N	2	104	3.9e-41	PFAM
low complexity region	137	155	N/A	INTRINSIC
Pfam:FAM110_C	180	289	1.7e-42	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	G	14: 41,819,374 (GRCm39)	Y105C	probably damaging	Het
Acr	T	C	15: 89,453,703 (GRCm39)	S81P	probably benign	Het
Akr1c14	T	C	13: 4,129,178 (GRCm39)		probably null	Het
Ank2	C	A	3: 126,738,499 (GRCm39)	E2375*	probably null	Het
Avpi1	A	G	19: 42,113,416 (GRCm39)	W14R	probably damaging	Het
Brd4	A	G	17: 32,417,989 (GRCm39)	V55A	probably benign	Het
Casp8ap2	A	G	4: 32,639,392 (GRCm39)	N149D	probably damaging	Het
Ccl25	A	T	8: 4,399,641 (GRCm39)		probably benign	Het
Celf5	A	G	10: 81,298,548 (GRCm39)	L299P	probably damaging	Het
Cfap418	A	G	4: 10,898,014 (GRCm39)	T199A	probably benign	Het
Cfap57	T	G	4: 118,470,323 (GRCm39)	T186P	possibly damaging	Het
Chrm4	A	G	2: 91,758,692 (GRCm39)	M367V	probably benign	Het
Col1a2	A	T	6: 4,516,904 (GRCm39)		probably benign	Het
Crybg3	G	A	16: 59,374,528 (GRCm39)	P2242L	probably damaging	Het
Cspg4	T	C	9: 56,795,358 (GRCm39)	V1031A	probably damaging	Het
Dbnl	C	A	11: 5,748,102 (GRCm39)	P313T	probably benign	Het
Dnah1	A	G	14: 30,986,882 (GRCm39)	F3637L	probably damaging	Het
Dnah7a	A	T	1: 53,518,820 (GRCm39)	I2979N	probably damaging	Het
Dusp10	T	C	1: 183,769,802 (GRCm39)	V256A	possibly damaging	Het
Dync2i1	T	C	12: 116,175,511 (GRCm39)	M889V	probably benign	Het
Erlin2	T	C	8: 27,521,792 (GRCm39)	V164A	probably benign	Het
Fkbp1a	T	C	2: 151,399,420 (GRCm39)		probably null	Het
Foxg1	G	A	12: 49,431,503 (GRCm39)		probably benign	Het
Gm12185	T	C	11: 48,806,826 (GRCm39)	S122G	probably benign	Het
Gm2042	A	T	12: 87,927,051 (GRCm39)	D456V	probably damaging	Het
Grin2b	A	G	6: 135,900,036 (GRCm39)	Y282H	probably damaging	Het
Gys2	T	C	6: 142,418,448 (GRCm39)	D27G	probably benign	Het
H2-DMa	T	A	17: 34,355,971 (GRCm39)		probably null	Het
Hectd4	T	A	5: 121,502,631 (GRCm39)	I4245N	possibly damaging	Het
Incenp	A	G	19: 9,870,736 (GRCm39)	Y298H	unknown	Het
Ints2	C	T	11: 86,123,911 (GRCm39)	G626R	probably damaging	Het
Kifc1	A	T	17: 34,102,671 (GRCm39)	V314E	probably damaging	Het
Lurap1l	C	T	4: 80,829,604 (GRCm39)	P5S	probably benign	Het
Mtmr11	A	G	3: 96,077,262 (GRCm39)	Y540C	probably damaging	Het
Muc4	C	A	16: 32,576,698 (GRCm39)		probably benign	Het
Myh13	A	G	11: 67,260,142 (GRCm39)	E1860G	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nbeal1	G	A	1: 60,350,106 (GRCm39)	G2385D	probably damaging	Het
Ncaph2	G	A	15: 89,255,559 (GRCm39)	A578T	probably benign	Het
Ncr1	T	C	7: 4,341,144 (GRCm39)	V8A	possibly damaging	Het
Nutm1	T	C	2: 112,086,513 (GRCm39)	T73A	probably damaging	Het
Olfm1	G	A	2: 28,119,348 (GRCm39)	D313N	probably damaging	Het
Or11h4	A	G	14: 50,974,164 (GRCm39)	F152L	possibly damaging	Het
Or13f5	A	G	4: 52,826,089 (GRCm39)	M231V	probably benign	Het
Or4a66	T	A	2: 88,531,164 (GRCm39)	N170Y	probably damaging	Het
Otog	T	A	7: 45,916,822 (GRCm39)		probably null	Het
Peak1	G	T	9: 56,166,991 (GRCm39)	D312E	probably damaging	Het
Plekhg1	T	C	10: 3,890,251 (GRCm39)	I331T	probably damaging	Het
Polr1b	T	C	2: 128,957,562 (GRCm39)	V539A	possibly damaging	Het
Polr2a	A	T	11: 69,638,039 (GRCm39)	H143Q	possibly damaging	Het
Ppargc1b	G	T	18: 61,440,785 (GRCm39)	A711D	probably damaging	Het
Prnd	T	A	2: 131,795,362 (GRCm39)	C161S	possibly damaging	Het
Prrt4	A	G	6: 29,171,147 (GRCm39)	L435P	possibly damaging	Het
Psen2	C	T	1: 180,055,085 (GRCm39)		probably null	Het
Psg23	T	C	7: 18,348,669 (GRCm39)	E46G	possibly damaging	Het
Rasgef1b	C	T	5: 99,380,195 (GRCm39)	R350H	probably damaging	Het
Rfxank	G	C	8: 70,590,820 (GRCm39)	P16A	probably benign	Het
Sema6a	A	G	18: 47,381,637 (GRCm39)	I944T	probably damaging	Het
Serpinc1	A	G	1: 160,825,091 (GRCm39)	T313A	probably benign	Het
Slc27a4	T	C	2: 29,694,283 (GRCm39)	S36P	possibly damaging	Het
Slc36a1	C	A	11: 55,114,563 (GRCm39)	R214S	probably benign	Het
Sorl1	C	T	9: 41,942,279 (GRCm39)	S982N	possibly damaging	Het
Speer1k	G	T	5: 11,000,518 (GRCm39)		probably null	Het
Syt1	A	C	10: 108,526,797 (GRCm39)	D37E	probably benign	Het
Tcl1b5	A	T	12: 105,142,750 (GRCm39)	D26V	probably damaging	Het
Tenm4	A	T	7: 96,544,430 (GRCm39)	K2149*	probably null	Het
Ubc	T	A	5: 125,465,238 (GRCm39)	I30F	probably damaging	Het
Ugt1a7c	A	T	1: 88,023,250 (GRCm39)	E136D	possibly damaging	Het
Utp20	A	G	10: 88,590,337 (GRCm39)		probably null	Het
Vmn1r159	C	T	7: 22,542,289 (GRCm39)	V248I	probably damaging	Het
Vmn2r105	T	C	17: 20,428,874 (GRCm39)	H734R	probably damaging	Het
Xrcc2	T	G	5: 25,897,707 (GRCm39)	I81L	possibly damaging	Het
Zfat	A	C	15: 68,052,864 (GRCm39)	I310S	probably damaging	Het
Zfp119a	A	G	17: 56,173,009 (GRCm39)	V278A	probably benign	Het
Zfp53	A	G	17: 21,720,508 (GRCm39)	K33E	probably benign	Het
Zfp866	G	T	8: 70,218,491 (GRCm39)	H376Q	probably damaging	Het

Other mutations in Fam110a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0316:Fam110a	UTSW	2	151,812,006 (GRCm39)	missense	probably benign	0.02
R0321:Fam110a	UTSW	2	151,812,587 (GRCm39)	missense	probably benign	0.01
R0546:Fam110a	UTSW	2	151,812,732 (GRCm39)	missense	probably benign
R0569:Fam110a	UTSW	2	151,812,404 (GRCm39)	missense	probably damaging	0.97
R1761:Fam110a	UTSW	2	151,812,125 (GRCm39)	missense	probably benign	0.13
R1842:Fam110a	UTSW	2	151,811,954 (GRCm39)	missense	probably damaging	0.99
R2173:Fam110a	UTSW	2	151,812,429 (GRCm39)	missense	probably damaging	1.00
R5447:Fam110a	UTSW	2	151,812,629 (GRCm39)	missense	probably damaging	1.00
R5825:Fam110a	UTSW	2	151,811,961 (GRCm39)	missense	probably damaging	1.00
R7128:Fam110a	UTSW	2	151,812,642 (GRCm39)	missense	probably damaging	1.00
R8364:Fam110a	UTSW	2	151,812,338 (GRCm39)	missense	probably damaging	1.00
R8790:Fam110a	UTSW	2	151,812,338 (GRCm39)	missense	probably damaging	1.00
R8951:Fam110a	UTSW	2	151,812,461 (GRCm39)	missense	probably damaging	0.96
R9390:Fam110a	UTSW	2	151,812,116 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GTTTCGCTCGATCACAGACACC -3'
(R):5'- AGAAGGATCTGCCCACAAGG -3'

Sequencing Primer
(F):5'- TCGATCACAGACACCCCATAGG -3'
(R):5'- ACCCAGTACTGTCGCGGTG -3'

Posted On

2019-05-13