Mutagenetix > Incidental Mutation

Incidental Mutation 'R5791:Fam149b'

446990

Institutional Source

Beutler Lab

Gene Symbol

Fam149b

Ensembl Gene

ENSMUSG00000039599

Gene Name

family with sequence similarity 149, member B

Synonyms

MMRRC Submission

043207-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.333) question?

Stock #

R5791 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20398230-20433559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20401394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 27 (K27R)

Ref Sequence

ENSEMBL: ENSMUSP00000153544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022344] [ENSMUST00000037698] [ENSMUST00000051915] [ENSMUST00000090499] [ENSMUST00000090503] [ENSMUST00000223955] [ENSMUST00000224110] [ENSMUST00000225597] [ENSMUST00000225991] [ENSMUST00000224930] [ENSMUST00000225942] [ENSMUST00000224721] [ENSMUST00000225834] [ENSMUST00000224412]

AlphaFold

Q6NSV7

Predicted Effect

probably benign
Transcript: ENSMUST00000022344

SMART Domains

Protein: ENSMUSP00000022344
Gene: ENSMUSG00000021810

Domain	Start	End	E-Value	Type
Pfam:SGT1	14	597	4.4e-247	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037698
AA Change: K21R

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045247
Gene: ENSMUSG00000039599
AA Change: K21R

Domain	Start	End	E-Value	Type
Pfam:DUF3719	116	183	2.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000051915
AA Change: K21R

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000056907
Gene: ENSMUSG00000039599
AA Change: K21R

Domain	Start	End	E-Value	Type
Pfam:DUF3719	116	183	2.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090499
AA Change: K21R

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000087985
Gene: ENSMUSG00000039599
AA Change: K21R

Domain	Start	End	E-Value	Type
Pfam:DUF3719	116	181	1.5e-28	PFAM
low complexity region	369	383	N/A	INTRINSIC
low complexity region	404	415	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090503
AA Change: K21R

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000087989
Gene: ENSMUSG00000039599
AA Change: K21R

Domain	Start	End	E-Value	Type
Pfam:DUF3719	116	157	5.7e-14	PFAM
low complexity region	276	290	N/A	INTRINSIC
low complexity region	311	322	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224079

Predicted Effect

probably damaging
Transcript: ENSMUST00000224110
AA Change: K27R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225597
AA Change: K21R

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

unknown
Transcript: ENSMUST00000225991
AA Change: K21R

Predicted Effect

probably benign
Transcript: ENSMUST00000224930
AA Change: K21R

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000225942
AA Change: K21R

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000224721
AA Change: K21R

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225834
AA Change: K21R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225487

Predicted Effect

probably benign
Transcript: ENSMUST00000224412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224242

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	C	8: 41,207,257 (GRCm39)	Q174H	probably benign	Het
Adipor2	A	T	6: 119,338,866 (GRCm39)	M129K	possibly damaging	Het
Arhgap29	T	A	3: 121,807,894 (GRCm39)	M616K	probably damaging	Het
Calcrl	A	T	2: 84,181,609 (GRCm39)	F180I	probably damaging	Het
Cdh4	T	C	2: 179,537,560 (GRCm39)	V864A	probably damaging	Het
Cep78	A	G	19: 15,938,436 (GRCm39)	F504S	probably benign	Het
Coasy	A	G	11: 100,975,211 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,530,696 (GRCm39)	N751S	probably benign	Het
Ecpas	C	T	4: 58,814,027 (GRCm39)	E1360K	possibly damaging	Het
Ecpas	T	A	4: 58,822,111 (GRCm39)	D1152V	probably damaging	Het
Eea1	T	A	10: 95,855,857 (GRCm39)	N631K	probably benign	Het
Fbxw26	A	G	9: 109,574,221 (GRCm39)	W42R	probably damaging	Het
Gas6	A	G	8: 13,520,217 (GRCm39)		probably null	Het
Gfral	C	T	9: 76,104,328 (GRCm39)	R228Q	probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gmppa	T	C	1: 75,418,899 (GRCm39)	V324A	possibly damaging	Het
Gstm2	C	T	3: 107,891,444 (GRCm39)		probably null	Het
Kcng3	A	G	17: 83,895,639 (GRCm39)	S276P	probably benign	Het
Lrrd1	T	C	5: 3,901,254 (GRCm39)	S520P	probably benign	Het
Lrrn2	A	G	1: 132,865,505 (GRCm39)	N190S	probably benign	Het
Lrwd1	G	C	5: 136,159,887 (GRCm39)	A392G	probably benign	Het
Mab21l2	A	G	3: 86,454,044 (GRCm39)	Y319H	probably damaging	Het
Ndufv3	A	G	17: 31,746,382 (GRCm39)	N91D	probably benign	Het
Nfatc2	T	A	2: 168,378,313 (GRCm39)	M451L	probably benign	Het
Or10g9b	A	T	9: 39,918,030 (GRCm39)	S72T	probably damaging	Het
Pcdhgb2	G	T	18: 37,825,393 (GRCm39)	V795F	possibly damaging	Het
Pdcd11	T	A	19: 47,099,430 (GRCm39)	M843K	possibly damaging	Het
Pla2g4c	T	A	7: 13,073,617 (GRCm39)	N221K	probably benign	Het
Ppox	T	C	1: 171,104,885 (GRCm39)	Y422C	probably damaging	Het
Retreg3	A	G	11: 100,991,769 (GRCm39)	S55P	probably damaging	Het
Rnf103	C	A	6: 71,485,909 (GRCm39)	T180K	probably damaging	Het
Tbl3	A	T	17: 24,923,408 (GRCm39)	L307H	probably damaging	Het
Tex26	A	T	5: 149,363,240 (GRCm39)		probably null	Het
Tln2	A	T	9: 67,293,887 (GRCm39)	I247K	probably damaging	Het
Txlnb	T	C	10: 17,674,876 (GRCm39)	S10P	probably benign	Het
Vwde	C	A	6: 13,195,985 (GRCm39)	E347*	probably null	Het
Wasf1	G	A	10: 40,802,570 (GRCm39)	R75Q	probably damaging	Het
Zfp14	A	G	7: 29,737,687 (GRCm39)	S433P	probably damaging	Het
Zfp647	G	T	15: 76,802,206 (GRCm39)	A2E	unknown	Het

Other mutations in Fam149b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Fam149b	APN	14	20,427,949 (GRCm39)	missense	possibly damaging	0.78
IGL02323:Fam149b	APN	14	20,413,369 (GRCm39)	missense	possibly damaging	0.94
IGL02631:Fam149b	APN	14	20,425,614 (GRCm39)	missense	probably damaging	0.97
IGL03208:Fam149b	APN	14	20,401,370 (GRCm39)	splice site	probably benign
R0334:Fam149b	UTSW	14	20,413,492 (GRCm39)	missense	probably damaging	0.97
R2511:Fam149b	UTSW	14	20,428,524 (GRCm39)	missense	probably damaging	1.00
R2566:Fam149b	UTSW	14	20,425,578 (GRCm39)	missense	probably damaging	0.97
R4659:Fam149b	UTSW	14	20,417,941 (GRCm39)	missense	probably benign	0.16
R5011:Fam149b	UTSW	14	20,413,439 (GRCm39)	missense	possibly damaging	0.92
R5013:Fam149b	UTSW	14	20,413,439 (GRCm39)	missense	possibly damaging	0.92
R5583:Fam149b	UTSW	14	20,413,368 (GRCm39)	missense	possibly damaging	0.66
R5905:Fam149b	UTSW	14	20,409,978 (GRCm39)	missense	probably benign	0.30
R6035:Fam149b	UTSW	14	20,427,985 (GRCm39)	missense	probably damaging	1.00
R6035:Fam149b	UTSW	14	20,427,985 (GRCm39)	missense	probably damaging	1.00
R7180:Fam149b	UTSW	14	20,431,853 (GRCm39)	missense	probably benign	0.01
R7210:Fam149b	UTSW	14	20,428,540 (GRCm39)	missense	probably damaging	0.99
R7976:Fam149b	UTSW	14	20,427,852 (GRCm39)	missense	probably damaging	0.98
R8529:Fam149b	UTSW	14	20,408,370 (GRCm39)	splice site	probably null
R8971:Fam149b	UTSW	14	20,402,777 (GRCm39)	missense	probably benign	0.30
R9743:Fam149b	UTSW	14	20,413,411 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TCAGTGGAGGTGAGCATTCC -3'
(R):5'- ACAGGTGTGGTCCGAATGAAC -3'

Sequencing Primer
(F):5'- TTAGTTCCAAACAGGGGCTC -3'
(R):5'- GTGGTCCGAATGAACAAACCCTTTG -3'

Posted On

2016-12-15