Mutagenetix > Incidental Mutation

Incidental Mutation 'R5672:Fam131a'

442695

Institutional Source

Beutler Lab

Gene Symbol

Fam131a

Ensembl Gene

ENSMUSG00000050821

Gene Name

family with sequence similarity 131, member A

Synonyms

2900046G09Rik

MMRRC Submission

043174-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R5672 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20511991-20521798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20518389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 88 (E88D)

Ref Sequence

ENSEMBL: ENSMUSP00000156118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007207] [ENSMUST00000056518] [ENSMUST00000118919] [ENSMUST00000120099] [ENSMUST00000128273] [ENSMUST00000149543] [ENSMUST00000232207] [ENSMUST00000232309]

AlphaFold

Q8BWU3

Predicted Effect

probably benign
Transcript: ENSMUST00000007207

SMART Domains

Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	102	111	N/A	INTRINSIC
Pfam:Voltage_CLC	151	555	1.2e-94	PFAM
Blast:CBS	595	644	3e-12	BLAST
low complexity region	666	680	N/A	INTRINSIC
CBS	803	850	3.69e0	SMART
low complexity region	869	881	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000056518
AA Change: E173D

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

SMART Domains

Protein: ENSMUSP00000060194
Gene: ENSMUSG00000050821
AA Change: E173D

Domain	Start	End	E-Value	Type
low complexity region	45	60	N/A	INTRINSIC
Pfam:FAM131	80	356	6.4e-144	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118919
AA Change: E88D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113719
Gene: ENSMUSG00000050821
AA Change: E88D

Domain	Start	End	E-Value	Type
Pfam:FAM131	1	271	4e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120099

SMART Domains

Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	102	111	N/A	INTRINSIC
Pfam:Voltage_CLC	151	538	5.6e-77	PFAM
Blast:CBS	578	627	4e-12	BLAST
low complexity region	649	663	N/A	INTRINSIC
CBS	786	833	3.69e0	SMART
low complexity region	852	864	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000128273
AA Change: E88D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120596
Gene: ENSMUSG00000050821
AA Change: E88D

Domain	Start	End	E-Value	Type
Pfam:FAM131	1	202	4e-100	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148131

Predicted Effect

probably benign
Transcript: ENSMUST00000149543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153075

Predicted Effect

probably damaging
Transcript: ENSMUST00000232207
AA Change: E88D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232309

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,383 (GRCm39)	N181S	possibly damaging	Het
Abcf3	A	T	16: 20,368,002 (GRCm39)	Q74L	probably benign	Het
Ankrd13c	T	C	3: 157,666,664 (GRCm39)		probably null	Het
Bub1	A	G	2: 127,646,800 (GRCm39)	F827L	possibly damaging	Het
Cfap68	T	C	9: 50,675,227 (GRCm39)	T67A	probably benign	Het
Cyp2c55	A	G	19: 39,023,990 (GRCm39)	I355V	probably benign	Het
Dido1	A	G	2: 180,313,696 (GRCm39)	S319P	probably damaging	Het
Efna5	A	T	17: 63,188,025 (GRCm39)	V34D	probably damaging	Het
Fsip2	A	T	2: 82,817,838 (GRCm39)	R4524*	probably null	Het
Gm6899	C	T	11: 26,543,484 (GRCm39)		probably benign	Het
Iqcg	C	T	16: 32,839,878 (GRCm39)	R356Q	probably damaging	Het
Itgae	T	A	11: 73,036,377 (GRCm39)	I1105N	possibly damaging	Het
Klb	T	C	5: 65,537,292 (GRCm39)	I874T	possibly damaging	Het
Klc3	T	C	7: 19,130,256 (GRCm39)	Y307C	probably damaging	Het
Lrp1b	T	A	2: 41,231,771 (GRCm39)	H378L	probably benign	Het
Mxd4	G	A	5: 34,335,044 (GRCm39)	R114C	probably damaging	Het
Nrdc	A	T	4: 108,895,242 (GRCm39)	R241*	probably null	Het
Ofcc1	G	A	13: 40,433,905 (GRCm39)	H67Y	probably damaging	Het
Or10ak9	A	G	4: 118,726,379 (GRCm39)	T134A	possibly damaging	Het
Or5p5	A	G	7: 107,413,844 (GRCm39)	T18A	probably damaging	Het
Or7e165	T	A	9: 19,694,507 (GRCm39)	I26N	possibly damaging	Het
Pard3b	G	T	1: 62,049,625 (GRCm39)	A128S	probably benign	Het
Plat	T	C	8: 23,263,664 (GRCm39)	Y188H	probably benign	Het
Pop1	A	G	15: 34,530,325 (GRCm39)	K908E	possibly damaging	Het
Pten	A	G	19: 32,735,866 (GRCm39)	I8V	probably benign	Het
Pwwp2a	C	T	11: 43,596,968 (GRCm39)	A436V	probably damaging	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Sdk1	T	C	5: 142,173,900 (GRCm39)	C2023R	possibly damaging	Het
Serpina1d	A	C	12: 103,730,101 (GRCm39)	D360E	possibly damaging	Het
Serpinb9b	A	G	13: 33,223,582 (GRCm39)	D258G	probably benign	Het
Smgc	G	A	15: 91,726,108 (GRCm39)	S18N	possibly damaging	Het
Snx27	A	T	3: 94,410,157 (GRCm39)		probably null	Het
Spem1	T	G	11: 69,712,263 (GRCm39)	K134Q	probably damaging	Het
Srgap3	T	A	6: 112,752,522 (GRCm39)	M321L	probably benign	Het
Tanc1	T	C	2: 59,602,697 (GRCm39)	C163R	possibly damaging	Het
Ube2ql1	A	T	13: 69,887,446 (GRCm39)	L5H	unknown	Het
Ubn2	T	C	6: 38,438,462 (GRCm39)	I225T	probably damaging	Het
Vmn1r181	A	C	7: 23,683,741 (GRCm39)	T69P	probably damaging	Het
Vmn2r110	A	G	17: 20,816,494 (GRCm39)	F10L	probably benign	Het
Yeats2	T	C	16: 19,980,779 (GRCm39)	M236T	probably damaging	Het

Other mutations in Fam131a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0141:Fam131a	UTSW	16	20,517,738 (GRCm39)	missense	probably benign	0.30
R3607:Fam131a	UTSW	16	20,520,345 (GRCm39)	missense	probably damaging	1.00
R3806:Fam131a	UTSW	16	20,514,608 (GRCm39)	missense	probably benign	0.45
R7485:Fam131a	UTSW	16	20,520,444 (GRCm39)	missense	probably benign	0.06
R7867:Fam131a	UTSW	16	20,514,584 (GRCm39)	missense	probably benign	0.05
R9282:Fam131a	UTSW	16	20,520,243 (GRCm39)	missense	possibly damaging	0.91
R9308:Fam131a	UTSW	16	20,520,582 (GRCm39)	missense	probably damaging	0.99
RF021:Fam131a	UTSW	16	20,513,690 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GAACAAGAGGCTCGCTTTGC -3'
(R):5'- TAAGTTGCTCTGGGAGTCTCAG -3'

Sequencing Primer
(F):5'- AGCAGATTTATCATAGGGCTGC -3'
(R):5'- CTCTGGGAGTCTCAGAGTGAATCAC -3'

Posted On

2016-11-09