Mutagenetix > Incidental Mutation

Incidental Mutation 'R6817:Fam78b'

537360

Institutional Source

Beutler Lab

Gene Symbol

Fam78b

Ensembl Gene

ENSMUSG00000060568

Gene Name

family with sequence similarity 78, member B

Synonyms

C030014K22Rik, C030020L09Rik

MMRRC Submission

044929-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R6817 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166828986-166918871 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 166906419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 193 (M193V)

Ref Sequence

ENSEMBL: ENSMUSP00000139628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126198] [ENSMUST00000156025] [ENSMUST00000165874] [ENSMUST00000190081]

AlphaFold

Q8BQN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126198
AA Change: M193V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156025
AA Change: M193V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165874
AA Change: M193V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190081
AA Change: M193V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1365

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Arhgap21	A	C	2: 20,885,107 (GRCm39)	L690R	probably benign	Het
Asxl3	A	G	18: 22,656,637 (GRCm39)	N1549S	probably benign	Het
Cast	T	C	13: 74,847,277 (GRCm39)	T670A	possibly damaging	Het
Cd109	A	G	9: 78,622,237 (GRCm39)	D1409G	probably benign	Het
Cemip	A	G	7: 83,637,200 (GRCm39)	F311S	probably damaging	Het
Cfap43	T	A	19: 47,744,524 (GRCm39)	I1210F	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cops5	G	A	1: 10,100,829 (GRCm39)	L256F	probably benign	Het
Cux1	T	C	5: 136,402,027 (GRCm39)		probably null	Het
Dab1	A	G	4: 104,536,743 (GRCm39)	K178E	probably damaging	Het
Ddc	A	G	11: 11,774,854 (GRCm39)	Y346H	probably damaging	Het
Dlg2	T	G	7: 91,614,872 (GRCm39)	D225E	probably benign	Het
Dsg1b	A	T	18: 20,527,462 (GRCm39)	I198F	probably damaging	Het
Ect2l	T	C	10: 18,049,807 (GRCm39)	H155R	probably benign	Het
Epha2	A	G	4: 141,036,305 (GRCm39)	H247R	probably damaging	Het
Esrp1	A	G	4: 11,357,552 (GRCm39)	V355A	probably damaging	Het
Gdpd4	A	G	7: 97,607,037 (GRCm39)	T4A	probably benign	Het
Gm17175	T	C	14: 51,810,478 (GRCm39)	N50D	possibly damaging	Het
Kcnt2	A	G	1: 140,173,931 (GRCm39)		probably benign	Het
Lpo	T	C	11: 87,700,067 (GRCm39)	N525D	probably benign	Het
Lrrc41	G	A	4: 115,946,502 (GRCm39)	E406K	possibly damaging	Het
Lrrc59	G	C	11: 94,520,891 (GRCm39)	D21H	probably damaging	Het
Mgat4a	G	A	1: 37,488,204 (GRCm39)	R472*	probably null	Het
Mroh7	C	T	4: 106,571,312 (GRCm39)	A14T	probably benign	Het
Muc5b	T	C	7: 141,416,650 (GRCm39)	S3199P	probably benign	Het
Muc6	T	A	7: 141,237,326 (GRCm39)	Y270F	probably damaging	Het
Myo18b	T	A	5: 112,978,104 (GRCm39)	T1273S	probably benign	Het
Nos2	A	T	11: 78,836,092 (GRCm39)	E385V	possibly damaging	Het
Nsl1	T	G	1: 190,795,471 (GRCm39)		probably null	Het
Nup93	T	C	8: 95,041,310 (GRCm39)		probably null	Het
Or5d45	A	T	2: 88,153,107 (GRCm39)	M314K	probably benign	Het
Pcna-ps2	T	G	19: 9,260,861 (GRCm39)	M40R	probably damaging	Het
Pik3r5	A	G	11: 68,377,407 (GRCm39)	E148G	probably damaging	Het
Pirt	A	G	11: 66,816,737 (GRCm39)	E16G	probably damaging	Het
Pkp4	T	C	2: 59,148,944 (GRCm39)	Y566H	probably damaging	Het
Psg17	A	C	7: 18,548,565 (GRCm39)	V402G	probably damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Rassf7	A	G	7: 140,797,360 (GRCm39)	E191G	probably damaging	Het
Rnf213	T	C	11: 119,353,111 (GRCm39)		probably null	Het
Slc34a2	C	T	5: 53,221,370 (GRCm39)	T272I	probably damaging	Het
Sos2	T	C	12: 69,664,935 (GRCm39)	E332G	probably benign	Het
Spdye4c	T	C	2: 128,438,430 (GRCm39)	Y263H	probably damaging	Het
Tmprss11f	C	T	5: 86,704,793 (GRCm39)	V42I	probably benign	Het
Trpv5	T	A	6: 41,634,941 (GRCm39)	N463Y	possibly damaging	Het
Ush2a	A	T	1: 188,595,061 (GRCm39)	Q3831L	probably benign	Het
Wdr41	C	A	13: 95,133,812 (GRCm39)		probably null	Het
Zfand1	A	G	3: 10,405,884 (GRCm39)	C246R	probably benign	Het

Other mutations in Fam78b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02966:Fam78b	APN	1	166,906,457 (GRCm39)	missense	probably damaging	1.00
IGL03128:Fam78b	APN	1	166,906,510 (GRCm39)	missense	probably damaging	1.00
IGL03258:Fam78b	APN	1	166,906,323 (GRCm39)	missense	probably damaging	1.00
pacer	UTSW	1	166,906,278 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Fam78b	UTSW	1	166,829,313 (GRCm39)	missense	probably benign	0.12
R1443:Fam78b	UTSW	1	166,906,329 (GRCm39)	missense	probably damaging	0.96
R1475:Fam78b	UTSW	1	166,829,346 (GRCm39)	missense	probably damaging	1.00
R1729:Fam78b	UTSW	1	166,829,199 (GRCm39)	missense	possibly damaging	0.83
R1883:Fam78b	UTSW	1	166,829,171 (GRCm39)	missense	probably benign
R2118:Fam78b	UTSW	1	166,906,278 (GRCm39)	missense	probably damaging	1.00
R2121:Fam78b	UTSW	1	166,906,278 (GRCm39)	missense	probably damaging	1.00
R2122:Fam78b	UTSW	1	166,906,278 (GRCm39)	missense	probably damaging	1.00
R2124:Fam78b	UTSW	1	166,906,278 (GRCm39)	missense	probably damaging	1.00
R2168:Fam78b	UTSW	1	166,906,219 (GRCm39)	missense	probably damaging	1.00
R4152:Fam78b	UTSW	1	166,906,369 (GRCm39)	missense	probably benign	0.19
R4167:Fam78b	UTSW	1	166,829,301 (GRCm39)	missense	possibly damaging	0.67
R4439:Fam78b	UTSW	1	166,906,491 (GRCm39)	missense	probably damaging	0.99
R4441:Fam78b	UTSW	1	166,906,491 (GRCm39)	missense	probably damaging	0.99
R4795:Fam78b	UTSW	1	166,906,216 (GRCm39)	missense	probably benign	0.01
R4796:Fam78b	UTSW	1	166,906,216 (GRCm39)	missense	probably benign	0.01
R6268:Fam78b	UTSW	1	166,906,122 (GRCm39)	missense	probably damaging	1.00
R7195:Fam78b	UTSW	1	166,906,131 (GRCm39)	missense	probably damaging	1.00
R7842:Fam78b	UTSW	1	166,829,178 (GRCm39)	missense	probably damaging	1.00
R8708:Fam78b	UTSW	1	166,906,332 (GRCm39)	missense	possibly damaging	0.90
R8803:Fam78b	UTSW	1	166,829,160 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTCCGTCAGCATGAATGATAAC -3'
(R):5'- CAGTTGGGCAGTCTGCTTTTAC -3'

Sequencing Primer
(F):5'- TGAATGATAACTTCTACCCCAGCGTG -3'
(R):5'- GCTTTTACTTAGGAGGTATCACAACC -3'

Posted On

2018-10-18