Mutagenetix > Incidental Mutation

Incidental Mutation 'R3607:Fam131a'

269136

Institutional Source

Beutler Lab

Gene Symbol

Fam131a

Ensembl Gene

ENSMUSG00000050821

Gene Name

family with sequence similarity 131, member A

Synonyms

2900046G09Rik

MMRRC Submission

040671-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R3607 (G1)

Quality Score

154

Status

Validated

Chromosome

Chromosomal Location

20511991-20521798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20520345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 181 (P181L)

Ref Sequence

ENSEMBL: ENSMUSP00000120596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007207] [ENSMUST00000056518] [ENSMUST00000118919] [ENSMUST00000120099] [ENSMUST00000128273] [ENSMUST00000131522] [ENSMUST00000232207] [ENSMUST00000232309] [ENSMUST00000149543]

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: P266L

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

SMART Domains

Protein: ENSMUSP00000060194
Gene: ENSMUSG00000050821
AA Change: P266L

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: P181L

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

SMART Domains

Protein: ENSMUSP00000113719
Gene: ENSMUSG00000050821
AA Change: P181L

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: P181L

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

SMART Domains

Protein: ENSMUSP00000120596
Gene: ENSMUSG00000050821
AA Change: P181L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131522

SMART Domains

Protein: ENSMUSP00000122921
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	473	4.2e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153075

Predicted Effect

probably benign
Transcript: ENSMUST00000232207

Predicted Effect

probably benign
Transcript: ENSMUST00000232309

Predicted Effect

probably benign
Transcript: ENSMUST00000149543

Meta Mutation Damage Score

0.1821

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.9%
20x: 93.3%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930510E17Rik	C	A	9: 53,191,083 (GRCm39)		noncoding transcript	Het
Adnp2	A	T	18: 80,172,284 (GRCm39)	N708K	probably damaging	Het
Arhgef17	C	A	7: 100,580,379 (GRCm39)	G190W	probably damaging	Het
Aspm	T	A	1: 139,408,406 (GRCm39)	M2431K	probably benign	Het
Aurkc	A	G	7: 7,005,859 (GRCm39)	Y157C	probably damaging	Het
Bpifb1	T	A	2: 154,053,485 (GRCm39)	N242K	possibly damaging	Het
Cracr2b	C	T	7: 141,046,059 (GRCm39)	P370S	possibly damaging	Het
Etv1	A	G	12: 38,881,085 (GRCm39)	Y66C	probably damaging	Het
F830016B08Rik	A	T	18: 60,433,780 (GRCm39)	K288*	probably null	Het
Fat2	T	A	11: 55,172,511 (GRCm39)	E2734V	probably damaging	Het
Fgfrl1	C	A	5: 108,853,289 (GRCm39)	T213K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gmfg	T	A	7: 28,140,961 (GRCm39)		probably null	Het
Gtpbp8	T	C	16: 44,564,119 (GRCm39)	Y184C	probably damaging	Het
Heatr5b	T	C	17: 79,141,646 (GRCm39)	E2G	probably damaging	Het
Itpr2	T	G	6: 146,129,099 (GRCm39)	T2005P	probably damaging	Het
Kmt2a	G	A	9: 44,760,493 (GRCm39)	T485M	probably damaging	Het
Kng1	T	C	16: 22,886,552 (GRCm39)	F112L	probably damaging	Het
Kprp	C	A	3: 92,731,588 (GRCm39)	Q487H	unknown	Het
Lctl	T	C	9: 64,040,475 (GRCm39)	Y473H	probably damaging	Het
Lpin2	T	A	17: 71,536,387 (GRCm39)	D225E	probably damaging	Het
Myom2	T	C	8: 15,119,775 (GRCm39)	V177A	probably damaging	Het
Nkrf	T	G	X: 36,153,730 (GRCm39)	N184T	probably benign	Het
Nt5c1b	A	G	12: 10,427,236 (GRCm39)	N329D	probably damaging	Het
Ogdhl	T	A	14: 32,057,318 (GRCm39)	V308E	probably damaging	Het
Or14a258	A	G	7: 86,034,903 (GRCm39)	C322R	probably benign	Het
Pcnx1	T	A	12: 81,975,066 (GRCm39)	F791I	probably damaging	Het
Prkg2	G	T	5: 99,095,236 (GRCm39)	T616K	probably damaging	Het
Psmd3	C	T	11: 98,581,780 (GRCm39)	R302W	probably damaging	Het
Ptpn1	A	G	2: 167,817,427 (GRCm39)	S355G	probably benign	Het
Pxdn	A	G	12: 30,040,917 (GRCm39)	N398D	probably benign	Het
Ranbp10	A	G	8: 106,502,667 (GRCm39)	S300P	probably benign	Het
Rbl1	A	T	2: 157,019,153 (GRCm39)	F531I	probably damaging	Het
Rgl3	A	G	9: 21,898,987 (GRCm39)	S151P	probably damaging	Het
Rnf213	C	A	11: 119,332,802 (GRCm39)	C2670*	probably null	Het
Tex16	T	A	X: 111,003,667 (GRCm39)	S159T	probably damaging	Het
Tnfaip3	A	G	10: 18,881,350 (GRCm39)	I312T	probably damaging	Het
Traf2	T	C	2: 25,420,427 (GRCm39)	T141A	probably benign	Het
Trpm7	T	C	2: 126,638,348 (GRCm39)		probably benign	Het
Usp11	T	G	X: 20,580,871 (GRCm39)	F426L	probably damaging	Het
Vcan	G	T	13: 89,851,420 (GRCm39)	T1180K	probably damaging	Het
Wasf1	G	C	10: 40,812,380 (GRCm39)	A390P	unknown	Het
Yif1b	C	T	7: 28,937,835 (GRCm39)	A7V	possibly 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
R3806:Fam131a	UTSW	16	20,514,608 (GRCm39)	missense	probably benign	0.45
R5672:Fam131a	UTSW	16	20,518,389 (GRCm39)	missense	probably damaging	1.00
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'- GACCTACTGAAATGGAGCCAGC -3'
(R):5'- TACAGGAATCAGGCTCCTCCTC -3'

Sequencing Primer
(F):5'- TCCCTTCACAGACATGGCTGG -3'
(R):5'- CTCGGCAGGGGAAAGGC -3'

Posted On

2015-02-19