Mutagenetix > Incidental Mutation

Incidental Mutation 'R8529:Potefam3b'

658944

Institutional Source

Beutler Lab

Gene Symbol

Potefam3b

Ensembl Gene

ENSMUSG00000095294

Gene Name

POTE ankyrin domain family member 3B

Synonyms

Gm21119, Pote3b

MMRRC Submission

068499-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8529 (G1)

Quality Score

117.008

Status

Not validated

Chromosome

Chromosomal Location

21154935-21180719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21159174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 176 (D176G)

Ref Sequence

ENSEMBL: ENSMUSP00000137434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178438]

AlphaFold

Q8C646

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178438
AA Change: D176G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137434
Gene: ENSMUSG00000095294
AA Change: D176G

Domain	Start	End	E-Value	Type
ANK	84	113	9.41e-6	SMART
ANK	117	146	1.48e-3	SMART
ANK	150	179	6.76e-7	SMART
ANK	183	212	1.4e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	G	2: 22,970,704 (GRCm39)	Y173C	probably benign	Het
Ankrd55	A	T	13: 112,480,670 (GRCm39)	T192S	probably benign	Het
Apob	A	T	12: 8,057,353 (GRCm39)	H1912L	probably damaging	Het
Bcl2l11	T	C	2: 127,970,796 (GRCm39)	S82P	possibly damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Btnl10	A	T	11: 58,813,238 (GRCm39)	D289V	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Cdh11	G	A	8: 103,391,387 (GRCm39)	P283L	probably benign	Het
Crybg3	C	A	16: 59,376,984 (GRCm39)	K1423N	probably damaging	Het
Dgat1	T	A	15: 76,387,237 (GRCm39)	Y350F	probably damaging	Het
Dhx36	TCCGCCGCCGCCGCCGC	TCCGCCGCCGCCGC	3: 62,414,277 (GRCm39)		probably benign	Het
Edc4	A	G	8: 106,611,682 (GRCm39)	D86G	probably damaging	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Erbb3	A	G	10: 128,419,069 (GRCm39)	V264A	probably damaging	Het
Fam149b	T	A	14: 20,408,370 (GRCm39)		probably null	Het
Foxc1	A	G	13: 31,992,520 (GRCm39)	S444G	unknown	Het
Gm2042	G	A	12: 87,926,856 (GRCm39)	S391N	possibly damaging	Het
Gnb3	A	T	6: 124,814,633 (GRCm39)	N88K	probably benign	Het
Ifnar2	T	A	16: 91,188,684 (GRCm39)	V157D	possibly damaging	Het
Il27	A	T	7: 126,191,977 (GRCm39)	L53Q	probably damaging	Het
Ints13	T	C	6: 146,464,926 (GRCm39)	E225G	probably damaging	Het
Itpr2	G	A	6: 146,231,051 (GRCm39)	R1167C	probably damaging	Het
Lrp2	A	T	2: 69,330,986 (GRCm39)	I1690K	probably damaging	Het
Lrrc37a	T	C	11: 103,348,373 (GRCm39)	E2774G	unknown	Het
Lyz2	A	T	10: 117,116,568 (GRCm39)	N93K	probably damaging	Het
Mki67	A	G	7: 135,315,688 (GRCm39)		probably null	Het
Mroh1	T	C	15: 76,311,832 (GRCm39)	F522L	probably benign	Het
Myo5a	A	G	9: 75,120,154 (GRCm39)	I1626V	probably benign	Het
Nav3	A	T	10: 109,689,192 (GRCm39)	S362T	probably benign	Het
Neurl4	C	T	11: 69,799,613 (GRCm39)	P972L	probably damaging	Het
Or11i1	A	T	3: 106,729,109 (GRCm39)	Y255*	probably null	Het
Or13p8	A	T	4: 118,583,770 (GRCm39)	T109S	probably benign	Het
Or8a1	A	T	9: 37,642,252 (GRCm39)	V9E	probably damaging	Het
Prdm5	C	T	6: 65,878,829 (GRCm39)	R128C	probably damaging	Het
Prom1	A	T	5: 44,170,369 (GRCm39)		probably null	Het
Prrc2c	T	A	1: 162,536,663 (GRCm39)		probably benign	Het
Prss3b	T	A	6: 41,009,369 (GRCm39)	Y155F	probably benign	Het
Ptprd	T	C	4: 76,047,262 (GRCm39)	T322A	probably damaging	Het
Reg3d	C	G	6: 78,353,382 (GRCm39)	G154R	probably null	Het
Rsf1	A	G	7: 97,320,074 (GRCm39)		probably benign	Het
Ryr1	T	A	7: 28,769,509 (GRCm39)	T2724S	possibly damaging	Het
Sec63	A	G	10: 42,665,379 (GRCm39)	Y103C	probably damaging	Het
Serpinb9b	A	T	13: 33,223,543 (GRCm39)	D245V	probably benign	Het
Slc22a28	G	A	19: 8,040,778 (GRCm39)	T491I	probably benign	Het
Slc24a2	T	C	4: 86,946,517 (GRCm39)	N484S	possibly damaging	Het
Slc44a3	G	T	3: 121,319,334 (GRCm39)	L136I	probably benign	Het
Tff3	A	G	17: 31,348,460 (GRCm39)		probably null	Het
Tpp2	T	A	1: 44,022,300 (GRCm39)	D899E	probably benign	Het
Tsbp1	G	T	17: 34,679,143 (GRCm39)	C302F	possibly damaging	Het
Tsen54	G	T	11: 115,711,386 (GRCm39)	D268Y	possibly damaging	Het
Ttbk2	A	C	2: 120,604,338 (GRCm39)	V220G	possibly damaging	Het
Uggt1	A	G	1: 36,223,513 (GRCm39)	V592A	possibly damaging	Het
Usp49	A	T	17: 47,983,037 (GRCm39)	Q14L	probably damaging	Het
Vldlr	T	A	19: 27,207,656 (GRCm39)	L48Q	probably benign	Het
Zbed6	T	C	1: 133,584,706 (GRCm39)	Y877C	probably benign	Het
Zp3	C	A	5: 136,016,119 (GRCm39)	T282N	probably damaging	Het

Other mutations in Potefam3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6667:Potefam3b	UTSW	8	21,161,955 (GRCm39)	missense	probably benign
R8793:Potefam3b	UTSW	8	21,159,053 (GRCm39)	missense	probably benign	0.02
R9575:Potefam3b	UTSW	8	21,159,090 (GRCm39)	missense	probably damaging	0.99
R9583:Potefam3b	UTSW	8	21,174,962 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TGTACAATTTTACAGGCCACCC -3'
(R):5'- ATCAGTACCTTCTTTGCATCAACAC -3'

Sequencing Primer
(F):5'- CACCCAACGAGACAATGTGGATTG -3'
(R):5'- TAAAATCAAGGCCAATTCTGAGAC -3'

Posted On

2021-01-18