Mutagenetix > Incidental Mutation

Incidental Mutation 'R3755:Kdm3b'

271422

Institutional Source

Beutler Lab

Gene Symbol

Kdm3b

Ensembl Gene

ENSMUSG00000038773

Gene Name

KDM3B lysine (K)-specific demethylase 3B

Synonyms

Jmjd1b, 5830462I21Rik, JHDM2B

MMRRC Submission

040738-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R3755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34910100-34971713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34941349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 280 (L280S)

Ref Sequence

ENSEMBL: ENSMUSP00000153446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043775] [ENSMUST00000224715] [ENSMUST00000225195]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043775
AA Change: L480S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: L480S

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
Blast:JmjC	149	944	N/A	BLAST
Blast:JmjC	946	1064	5e-40	BLAST
Blast:JmjC	1069	1471	N/A	BLAST
JmjC	1499	1722	2.43e-65	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180512

Predicted Effect

probably benign
Transcript: ENSMUST00000224715

Predicted Effect

probably benign
Transcript: ENSMUST00000225195
AA Change: L280S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225260

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	C	A	10: 29,098,110 (GRCm39)	S169Y	probably damaging	Het
Abcb1a	G	A	5: 8,797,403 (GRCm39)	V1225M	possibly damaging	Het
Adamdec1	A	T	14: 68,814,587 (GRCm39)	I130N	probably damaging	Het
Atf7ip	T	A	6: 136,537,815 (GRCm39)	N357K	probably benign	Het
Bace2	C	G	16: 97,237,857 (GRCm39)	T436R	probably benign	Het
Capn13	G	A	17: 73,638,114 (GRCm39)	Q430*	probably null	Het
Ccdc30	A	T	4: 119,225,005 (GRCm39)		probably null	Het
Ces5a	T	C	8: 94,255,130 (GRCm39)	T184A	probably benign	Het
Cntnap5c	T	C	17: 58,411,594 (GRCm39)	C493R	possibly damaging	Het
Creb3l2	A	T	6: 37,340,961 (GRCm39)	I146N	possibly damaging	Het
Erich3	A	G	3: 154,469,958 (GRCm39)		probably benign	Het
Etl4	G	A	2: 20,748,348 (GRCm39)	V27I	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fsip2	G	A	2: 82,808,561 (GRCm39)	D1627N	probably benign	Het
Gcdh	A	G	8: 85,620,109 (GRCm39)		probably benign	Het
Kcna7	T	C	7: 45,058,369 (GRCm39)	F219L	probably benign	Het
Knl1	T	A	2: 118,933,060 (GRCm39)	V2073D	probably damaging	Het
Kprp	A	G	3: 92,732,346 (GRCm39)	S235P	unknown	Het
Lpp	A	G	16: 24,663,911 (GRCm39)	H396R	probably benign	Het
Lrch4	T	A	5: 137,635,992 (GRCm39)	D348E	probably damaging	Het
Mcm9	T	C	10: 53,502,048 (GRCm39)	N179S	probably benign	Het
Mettl13	T	C	1: 162,371,789 (GRCm39)	E360G	probably damaging	Het
Nfib	A	T	4: 82,241,936 (GRCm39)	S418R	probably damaging	Het
Or52b1	A	G	7: 104,979,358 (GRCm39)	F14L	probably damaging	Het
Or8s2	A	C	15: 98,276,463 (GRCm39)	I176S	probably benign	Het
Pcdha8	G	A	18: 37,126,741 (GRCm39)	V408M	probably damaging	Het
Pcdhb3	T	C	18: 37,435,878 (GRCm39)	F615L	probably damaging	Het
Pkd1l3	C	T	8: 110,359,171 (GRCm39)	T844I	probably damaging	Het
Pkhd1l1	A	T	15: 44,452,802 (GRCm39)	E3909V	probably damaging	Het
Poldip3	A	G	15: 83,015,676 (GRCm39)		probably benign	Het
Ptpn1	T	C	2: 167,816,143 (GRCm39)	I219T	probably damaging	Het
Rad18	T	C	6: 112,670,432 (GRCm39)	N44S	probably damaging	Het
Reep5	T	C	18: 34,505,527 (GRCm39)	Y48C	probably damaging	Het
Rgl2	C	A	17: 34,151,571 (GRCm39)	A205D	probably benign	Het
Rundc3a	A	G	11: 102,290,085 (GRCm39)	I175V	possibly damaging	Het
Slamf1	C	T	1: 171,604,728 (GRCm39)	A166V	probably damaging	Het
Slc4a5	A	G	6: 83,265,285 (GRCm39)	D693G	probably benign	Het
Snap23	T	A	2: 120,416,726 (GRCm39)	C79S	probably damaging	Het
Spag6l	A	C	16: 16,580,884 (GRCm39)		probably null	Het
Trappc13	C	T	13: 104,305,068 (GRCm39)	D40N	probably benign	Het
Trav4-3	C	A	14: 53,836,596 (GRCm39)	S20R	probably benign	Het
Tssk2	G	A	16: 17,716,827 (GRCm39)	E77K	probably damaging	Het
Ubap2	A	G	4: 41,195,482 (GRCm39)	F1051S	probably damaging	Het
Ugt3a1	A	G	15: 9,367,498 (GRCm39)	T414A	probably benign	Het
Urod	C	T	4: 116,850,601 (GRCm39)	C66Y	probably damaging	Het
Vmn1r234	A	G	17: 21,449,271 (GRCm39)	K62E	probably damaging	Het
Wiz	A	G	17: 32,578,106 (GRCm39)	S460P	probably damaging	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zbtb7a	C	T	10: 80,980,100 (GRCm39)	T98M	probably damaging	Het
Zfp524	C	A	7: 5,020,884 (GRCm39)	H137Q	probably damaging	Het

Other mutations in Kdm3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Kdm3b	APN	18	34,942,462 (GRCm39)	missense	probably benign	0.03
IGL01357:Kdm3b	APN	18	34,926,067 (GRCm39)	missense	probably damaging	1.00
IGL01615:Kdm3b	APN	18	34,962,284 (GRCm39)	missense	probably damaging	1.00
IGL01980:Kdm3b	APN	18	34,967,289 (GRCm39)	missense	probably damaging	1.00
IGL02277:Kdm3b	APN	18	34,956,717 (GRCm39)	missense	probably damaging	1.00
IGL02346:Kdm3b	APN	18	34,967,291 (GRCm39)	missense	probably damaging	1.00
IGL02417:Kdm3b	APN	18	34,941,630 (GRCm39)	missense	probably benign	0.03
IGL02531:Kdm3b	APN	18	34,928,782 (GRCm39)	missense	probably benign
IGL02589:Kdm3b	APN	18	34,945,471 (GRCm39)	missense	possibly damaging	0.89
IGL02793:Kdm3b	APN	18	34,962,072 (GRCm39)	missense	probably damaging	0.99
IGL03121:Kdm3b	APN	18	34,928,762 (GRCm39)	missense	probably damaging	0.98
IGL03123:Kdm3b	APN	18	34,942,544 (GRCm39)	critical splice donor site	probably null
IGL03128:Kdm3b	APN	18	34,960,480 (GRCm39)	missense	probably damaging	1.00
Affable	UTSW	18	34,926,058 (GRCm39)	missense	probably damaging	1.00
Dotage	UTSW	18	34,960,435 (GRCm39)	missense	probably damaging	1.00
Endearing	UTSW	18	34,960,381 (GRCm39)	splice site	probably null
Oldtimer	UTSW	18	34,956,752 (GRCm39)	nonsense	probably null
PIT4382001:Kdm3b	UTSW	18	34,942,140 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Kdm3b	UTSW	18	34,926,168 (GRCm39)	nonsense	probably null
R0068:Kdm3b	UTSW	18	34,957,827 (GRCm39)	missense	probably benign	0.18
R0068:Kdm3b	UTSW	18	34,957,827 (GRCm39)	missense	probably benign	0.18
R0233:Kdm3b	UTSW	18	34,942,473 (GRCm39)	missense	probably damaging	0.97
R0265:Kdm3b	UTSW	18	34,928,716 (GRCm39)	splice site	probably benign
R0306:Kdm3b	UTSW	18	34,937,070 (GRCm39)	missense	probably benign	0.35
R0941:Kdm3b	UTSW	18	34,936,605 (GRCm39)	missense	probably damaging	0.99
R0970:Kdm3b	UTSW	18	34,942,092 (GRCm39)	missense	probably damaging	1.00
R1061:Kdm3b	UTSW	18	34,929,915 (GRCm39)	missense	probably damaging	1.00
R1104:Kdm3b	UTSW	18	34,952,864 (GRCm39)	missense	probably damaging	1.00
R1221:Kdm3b	UTSW	18	34,941,298 (GRCm39)	missense	possibly damaging	0.57
R1486:Kdm3b	UTSW	18	34,967,357 (GRCm39)	missense	probably damaging	1.00
R1523:Kdm3b	UTSW	18	34,926,226 (GRCm39)	critical splice donor site	probably null
R1558:Kdm3b	UTSW	18	34,942,149 (GRCm39)	missense	probably damaging	1.00
R1585:Kdm3b	UTSW	18	34,942,345 (GRCm39)	missense	probably damaging	1.00
R1601:Kdm3b	UTSW	18	34,941,784 (GRCm39)	missense	probably damaging	1.00
R1650:Kdm3b	UTSW	18	34,942,168 (GRCm39)	missense	possibly damaging	0.93
R1772:Kdm3b	UTSW	18	34,936,557 (GRCm39)	missense	probably benign	0.01
R1853:Kdm3b	UTSW	18	34,966,446 (GRCm39)	missense	probably damaging	1.00
R1934:Kdm3b	UTSW	18	34,946,597 (GRCm39)	missense	probably benign	0.04
R1959:Kdm3b	UTSW	18	34,945,448 (GRCm39)	missense	possibly damaging	0.55
R2079:Kdm3b	UTSW	18	34,936,570 (GRCm39)	missense	probably damaging	1.00
R2102:Kdm3b	UTSW	18	34,963,200 (GRCm39)	missense	probably damaging	1.00
R2121:Kdm3b	UTSW	18	34,929,833 (GRCm39)	splice site	probably benign
R2281:Kdm3b	UTSW	18	34,941,472 (GRCm39)	missense	probably damaging	1.00
R3719:Kdm3b	UTSW	18	34,941,724 (GRCm39)	missense	probably damaging	1.00
R3857:Kdm3b	UTSW	18	34,966,440 (GRCm39)	missense	probably benign
R4165:Kdm3b	UTSW	18	34,928,797 (GRCm39)	missense	probably benign	0.01
R4166:Kdm3b	UTSW	18	34,928,797 (GRCm39)	missense	probably benign	0.01
R4372:Kdm3b	UTSW	18	34,960,497 (GRCm39)	missense	probably benign	0.00
R4672:Kdm3b	UTSW	18	34,941,630 (GRCm39)	missense	probably benign
R4933:Kdm3b	UTSW	18	34,943,446 (GRCm39)	missense	probably damaging	1.00
R4969:Kdm3b	UTSW	18	34,955,428 (GRCm39)	missense	probably damaging	1.00
R5009:Kdm3b	UTSW	18	34,957,763 (GRCm39)	missense	probably benign	0.42
R5059:Kdm3b	UTSW	18	34,910,250 (GRCm39)	missense	possibly damaging	0.83
R5092:Kdm3b	UTSW	18	34,946,515 (GRCm39)	missense	probably benign	0.16
R5270:Kdm3b	UTSW	18	34,960,467 (GRCm39)	missense	probably damaging	1.00
R5816:Kdm3b	UTSW	18	34,961,522 (GRCm39)	missense	probably damaging	0.99
R5970:Kdm3b	UTSW	18	34,962,342 (GRCm39)	missense	probably damaging	1.00
R6244:Kdm3b	UTSW	18	34,926,058 (GRCm39)	missense	probably damaging	1.00
R6705:Kdm3b	UTSW	18	34,952,926 (GRCm39)	missense	probably damaging	1.00
R6723:Kdm3b	UTSW	18	34,926,058 (GRCm39)	missense	probably damaging	0.99
R6909:Kdm3b	UTSW	18	34,960,381 (GRCm39)	splice site	probably null
R6958:Kdm3b	UTSW	18	34,941,336 (GRCm39)	missense	probably benign	0.00
R7026:Kdm3b	UTSW	18	34,955,517 (GRCm39)	missense	possibly damaging	0.90
R7289:Kdm3b	UTSW	18	34,927,557 (GRCm39)	missense	probably benign	0.00
R7488:Kdm3b	UTSW	18	34,957,934 (GRCm39)	missense	probably damaging	0.97
R7587:Kdm3b	UTSW	18	34,930,080 (GRCm39)	splice site	probably null
R7695:Kdm3b	UTSW	18	34,927,612 (GRCm39)	missense	possibly damaging	0.86
R7846:Kdm3b	UTSW	18	34,942,293 (GRCm39)	missense	possibly damaging	0.94
R7984:Kdm3b	UTSW	18	34,956,752 (GRCm39)	nonsense	probably null
R7997:Kdm3b	UTSW	18	34,941,336 (GRCm39)	missense	probably benign	0.00
R8035:Kdm3b	UTSW	18	34,941,781 (GRCm39)	missense	probably damaging	1.00
R8064:Kdm3b	UTSW	18	34,946,460 (GRCm39)	critical splice acceptor site	probably null
R8141:Kdm3b	UTSW	18	34,961,599 (GRCm39)	nonsense	probably null
R8302:Kdm3b	UTSW	18	34,967,388 (GRCm39)	missense	probably damaging	1.00
R8328:Kdm3b	UTSW	18	34,926,123 (GRCm39)	missense	probably damaging	1.00
R8443:Kdm3b	UTSW	18	34,926,129 (GRCm39)	missense	probably benign	0.04
R8513:Kdm3b	UTSW	18	34,926,129 (GRCm39)	missense	probably benign	0.04
R8515:Kdm3b	UTSW	18	34,926,129 (GRCm39)	missense	probably benign	0.04
R8523:Kdm3b	UTSW	18	34,926,129 (GRCm39)	missense	probably benign	0.04
R8717:Kdm3b	UTSW	18	34,952,840 (GRCm39)	missense	probably damaging	0.98
R8725:Kdm3b	UTSW	18	34,960,435 (GRCm39)	missense	probably damaging	1.00
R8727:Kdm3b	UTSW	18	34,960,435 (GRCm39)	missense	probably damaging	1.00
R8762:Kdm3b	UTSW	18	34,937,157 (GRCm39)	missense	probably benign
R8835:Kdm3b	UTSW	18	34,941,802 (GRCm39)	missense	probably damaging	1.00
R8918:Kdm3b	UTSW	18	34,970,650 (GRCm39)	missense	probably damaging	1.00
R9015:Kdm3b	UTSW	18	34,963,212 (GRCm39)	missense	probably damaging	1.00
R9144:Kdm3b	UTSW	18	34,927,558 (GRCm39)	missense	probably benign
R9246:Kdm3b	UTSW	18	34,941,480 (GRCm39)	nonsense	probably null
R9376:Kdm3b	UTSW	18	34,970,718 (GRCm39)	missense	probably damaging	0.99
X0028:Kdm3b	UTSW	18	34,932,319 (GRCm39)	splice site	probably null
X0067:Kdm3b	UTSW	18	34,956,570 (GRCm39)	missense	probably benign	0.00
Z1176:Kdm3b	UTSW	18	34,942,122 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCAGGTGTAAGAGCAGGTTC -3'
(R):5'- AATCCCTGCTCGAGGAGTCATC -3'

Sequencing Primer
(F):5'- TGTAAGAGCAGGTTCATGAAATATAG -3'
(R):5'- CCTGCTCAGGTAGTTAGTGC -3'

Posted On

2015-03-18