Mutagenetix > Incidental Mutation

Incidental Mutation 'R5847:Pbld1'

453684

Institutional Source

Beutler Lab

Gene Symbol

Pbld1

Ensembl Gene

ENSMUSG00000112129

Gene Name

phenazine biosynthesis-like protein domain containing 1

Synonyms

Pbld, 0610038K03Rik

MMRRC Submission

044065-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62896404-62913743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62912193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 275 (I275L)

Ref Sequence

ENSEMBL: ENSMUSP00000020266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020266] [ENSMUST00000178684]

AlphaFold

Q9DCG6

Predicted Effect

probably benign
Transcript: ENSMUST00000020266
AA Change: I275L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020266
Gene: ENSMUSG00000112129
AA Change: I275L

Domain	Start	End	E-Value	Type
Pfam:PhzC-PhzF	8	285	7e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178684
AA Change: I274L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000136589
Gene: ENSMUSG00000112129
AA Change: I274L

Domain	Start	End	E-Value	Type
Pfam:PhzC-PhzF	8	284	2.6e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218358

Predicted Effect

probably benign
Transcript: ENSMUST00000219829

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	T	A	10: 14,302,521 (GRCm39)	Y964F	probably damaging	Het
Akap3	T	A	6: 126,842,521 (GRCm39)	L380Q	probably damaging	Het
Alpk1	A	G	3: 127,473,723 (GRCm39)	I760T	probably benign	Het
Aoc1l2	T	A	6: 48,910,412 (GRCm39)	F701L	probably damaging	Het
Arhgap20	G	A	9: 51,736,276 (GRCm39)		probably benign	Het
Cacng3	T	C	7: 122,361,532 (GRCm39)	F113S	possibly damaging	Het
Ccdc158	G	T	5: 92,775,339 (GRCm39)	N955K	probably benign	Het
Ccdc63	T	A	5: 122,254,908 (GRCm39)	M368L	possibly damaging	Het
Cnot2	T	C	10: 116,363,851 (GRCm39)	T18A	probably damaging	Het
Ctnna2	A	T	6: 76,950,820 (GRCm39)	D550E	possibly damaging	Het
Cyp2c37	C	T	19: 40,000,176 (GRCm39)	R433W	probably damaging	Het
Dact2	A	G	17: 14,419,450 (GRCm39)	S103P	probably damaging	Het
Dek	A	G	13: 47,255,077 (GRCm39)		probably benign	Het
Dnah9	CAGTTGCTTAAA	CA	11: 65,986,066 (GRCm39)		probably null	Het
Dock4	A	G	12: 40,671,250 (GRCm39)	Y23C	probably damaging	Het
Edar	T	A	10: 58,439,001 (GRCm39)	S344C	probably damaging	Het
Epg5	T	C	18: 78,073,270 (GRCm39)	V2431A	probably benign	Het
Evc2	C	T	5: 37,562,068 (GRCm39)		probably benign	Het
Idh3b	A	T	2: 130,125,948 (GRCm39)	D41E	probably benign	Het
Igkv8-24	A	T	6: 70,193,956 (GRCm39)	V84D	probably damaging	Het
Iqca1l	A	T	5: 24,749,164 (GRCm39)	L778Q	probably benign	Het
Mgam	T	C	6: 40,660,989 (GRCm39)	I1118T	probably benign	Het
Mtmr3	A	G	11: 4,432,925 (GRCm39)	V1116A	probably damaging	Het
Myoc	A	G	1: 162,466,936 (GRCm39)	Y35C	probably damaging	Het
Ncr1	A	T	7: 4,347,573 (GRCm39)	D246V	probably benign	Het
Nphp3	A	G	9: 103,880,236 (GRCm39)	E86G	probably damaging	Het
Or2l13b	A	T	16: 19,349,076 (GRCm39)	V198E	probably damaging	Het
Or52e5	A	T	7: 104,719,064 (GRCm39)	Y130F	probably benign	Het
Or8h7	A	C	2: 86,720,676 (GRCm39)	V281G	probably damaging	Het
Pde12	A	G	14: 26,386,786 (GRCm39)	V574A	possibly damaging	Het
Pdxk	G	T	10: 78,280,872 (GRCm39)	D189E	probably benign	Het
Pkhd1	C	A	1: 20,444,960 (GRCm39)	E2276*	probably null	Het
Ppp1r10	A	G	17: 36,237,739 (GRCm39)	N237S	possibly damaging	Het
Rheb	T	A	5: 25,012,067 (GRCm39)	Y131F	probably benign	Het
Rpgrip1l	T	C	8: 92,031,613 (GRCm39)	D88G	probably damaging	Het
Scgb2b33	T	C	7: 32,812,239 (GRCm39)		noncoding transcript	Het
Snx9	C	A	17: 5,974,896 (GRCm39)	N461K	possibly damaging	Het
Tbc1d2b	C	A	9: 90,091,777 (GRCm39)	V842F	probably damaging	Het
Tgfbi	G	A	13: 56,784,418 (GRCm39)	E615K	possibly damaging	Het
Tmem51	A	G	4: 141,759,346 (GRCm39)	M134T	probably damaging	Het
Tox4	A	G	14: 52,524,241 (GRCm39)	D125G	probably damaging	Het
Trappc3	A	T	4: 126,167,771 (GRCm39)	N110I	probably damaging	Het
Trim11	T	A	11: 58,881,419 (GRCm39)	D437E	probably damaging	Het
Ttc23l	T	C	15: 10,537,682 (GRCm39)	N196S	probably benign	Het
Wnk1	C	A	6: 119,969,369 (GRCm39)	G362V	probably damaging	Het
Wwc1	A	G	11: 35,758,153 (GRCm39)	F731S	probably damaging	Het
Wwp1	A	T	4: 19,662,174 (GRCm39)	D140E	possibly damaging	Het
Zfp24	G	A	18: 24,151,095 (GRCm39)	P17L	possibly damaging	Het
Zfp354b	T	C	11: 50,814,043 (GRCm39)	E294G	probably damaging	Het
Zfp853	C	T	5: 143,274,424 (GRCm39)	V399M	unknown	Het
Zfp868	T	C	8: 70,064,303 (GRCm39)	H344R	probably damaging	Het

Other mutations in Pbld1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0121:Pbld1	UTSW	10	62,907,282 (GRCm39)	splice site	probably benign
R6564:Pbld1	UTSW	10	62,907,806 (GRCm39)	missense	possibly damaging	0.52
R6644:Pbld1	UTSW	10	62,910,842 (GRCm39)	missense	probably damaging	1.00
R6827:Pbld1	UTSW	10	62,903,212 (GRCm39)	missense	probably damaging	1.00
R6882:Pbld1	UTSW	10	62,897,241 (GRCm39)	missense	probably benign	0.07
R8693:Pbld1	UTSW	10	62,910,890 (GRCm39)	nonsense	probably null
R8885:Pbld1	UTSW	10	62,912,226 (GRCm39)	missense	probably benign	0.00
R8944:Pbld1	UTSW	10	62,901,648 (GRCm39)	missense	probably benign	0.28
R9221:Pbld1	UTSW	10	62,907,829 (GRCm39)	missense
R9259:Pbld1	UTSW	10	62,897,436 (GRCm39)	missense	possibly damaging	0.66
X0053:Pbld1	UTSW	10	62,912,193 (GRCm39)	frame shift	probably null
X0063:Pbld1	UTSW	10	62,912,232 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGGCATTTATCCTGGAAAGTGG -3'
(R):5'- AAAGGATTCTGGAGACACTACCG -3'

Sequencing Primer
(F):5'- ATCCTGGAAAGTGGCCTGG -3'
(R):5'- TGGAGACACTACCGCACCTC -3'

Posted On

2017-02-10