Mutagenetix > Incidental Mutation

Incidental Mutation 'R7984:Kdm3b'

651399

Institutional Source

Beutler Lab

Gene Symbol

Kdm3b

Ensembl Gene

ENSMUSG00000038773

Gene Name

KDM3B lysine (K)-specific demethylase 3B

Synonyms

Jmjd1b, 5830462I21Rik, JHDM2B

MMRRC Submission

046025-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R7984 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34910100-34971713 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 34956752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 1236 (E1236*)

Ref Sequence

ENSEMBL: ENSMUSP00000037628 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000043775
AA Change: E1236*

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: E1236*

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

probably null
Transcript: ENSMUST00000225195
AA Change: E1036*

Meta Mutation Damage Score

0.9753

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1e1	G	T	13: 4,645,679 (GRCm39)	H226N	probably damaging	Het
Aldh1a7	T	C	19: 20,686,764 (GRCm39)	D283G	probably damaging	Het
Angel1	T	C	12: 86,767,068 (GRCm39)	D436G	probably benign	Het
Ank1	G	A	8: 23,578,982 (GRCm39)	R314Q	probably damaging	Het
Apbb2	T	C	5: 66,465,035 (GRCm39)	E629G	probably damaging	Het
Card9	T	G	2: 26,246,784 (GRCm39)	I355L	probably benign	Het
Cdon	C	T	9: 35,414,598 (GRCm39)	P1158S	probably benign	Het
Cpne7	T	G	8: 123,846,461 (GRCm39)	V91G	possibly damaging	Het
Dlc1	T	A	8: 37,405,472 (GRCm39)	T106S	possibly damaging	Het
Dnah1	A	T	14: 30,989,772 (GRCm39)	F3248Y	probably damaging	Het
Dnah7a	A	T	1: 53,543,377 (GRCm39)	D2264E	probably benign	Het
Dock7	A	T	4: 98,877,303 (GRCm39)	N1078K	unknown	Het
Emc1	T	A	4: 139,102,760 (GRCm39)	L973H	probably damaging	Het
Fer1l5	T	A	1: 36,447,702 (GRCm39)	L955Q	possibly damaging	Het
Fpr-rs7	T	C	17: 20,333,671 (GRCm39)	N273S	probably benign	Het
Gle1	T	A	2: 29,828,588 (GRCm39)	Y137N	probably damaging	Het
Grik4	G	A	9: 42,582,557 (GRCm39)	Q130*	probably null	Het
Hcn1	C	T	13: 118,112,609 (GRCm39)	Q858*	probably null	Het
Heg1	A	C	16: 33,583,945 (GRCm39)	S76R	possibly damaging	Het
Ikbke	T	A	1: 131,203,523 (GRCm39)	E50V	probably null	Het
Itga5	G	A	15: 103,264,379 (GRCm39)	P297S	probably damaging	Het
Kcng1	C	A	2: 168,104,406 (GRCm39)	R480L	possibly damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lrp5	A	G	19: 3,662,342 (GRCm39)	F894L	probably damaging	Het
Lrrk1	T	C	7: 65,950,477 (GRCm39)		probably null	Het
Man2a2	T	G	7: 80,003,056 (GRCm39)	T1018P	probably damaging	Het
Mctp2	T	C	7: 71,752,937 (GRCm39)	Q772R	possibly damaging	Het
Meioc	T	A	11: 102,565,432 (GRCm39)	N293K	possibly damaging	Het
Mrps24	A	T	11: 5,657,495 (GRCm39)	C34S	possibly damaging	Het
Nek1	G	T	8: 61,574,087 (GRCm39)	E1112*	probably null	Het
Nt5dc2	A	G	14: 30,860,775 (GRCm39)	S317G	probably damaging	Het
Obscn	G	T	11: 58,997,151 (GRCm39)	Q1492K	possibly damaging	Het
Or2a57	T	G	6: 43,212,730 (GRCm39)	S63A	probably damaging	Het
Or52e4	T	C	7: 104,705,639 (GRCm39)	F62S	probably damaging	Het
Or6c69	A	G	10: 129,747,941 (GRCm39)	F69L	probably benign	Het
Or8b36	A	G	9: 37,937,155 (GRCm39)	T18A	probably damaging	Het
Or9m1b	T	A	2: 87,836,969 (GRCm39)	N42I	probably damaging	Het
Or9s23	A	G	1: 92,501,144 (GRCm39)	I84V	probably benign	Het
P2ry12	T	A	3: 59,125,022 (GRCm39)	I218F	probably damaging	Het
Paip1	C	T	13: 119,566,698 (GRCm39)	Q11*	probably null	Het
Pcdhga3	C	A	18: 37,809,549 (GRCm39)	D667E	probably benign	Het
Pcnx2	T	G	8: 126,485,865 (GRCm39)	E1911A	probably benign	Het
Pibf1	T	C	14: 99,459,063 (GRCm39)	L678P	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Prickle2	T	C	6: 92,387,855 (GRCm39)	T516A	probably benign	Het
Prl2c1	G	A	13: 28,039,310 (GRCm39)		probably null	Het
Rnf112	A	G	11: 61,340,306 (GRCm39)	V656A	possibly damaging	Het
Siglecf	A	C	7: 43,004,655 (GRCm39)		probably null	Het
Slc24a1	A	T	9: 64,856,811 (GRCm39)	L32*	probably null	Het
Slc7a1	A	G	5: 148,278,920 (GRCm39)	V284A	possibly damaging	Het
Slco5a1	T	A	1: 12,951,608 (GRCm39)	H565L	probably damaging	Het
Slit2	A	G	5: 48,333,465 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,929,497 (GRCm39)	T255A	probably benign	Het
Tmem130	C	T	5: 144,692,237 (GRCm39)	G56R	possibly damaging	Het
Trmt1l	A	C	1: 151,311,489 (GRCm39)	Q116H	probably benign	Het
Ttn	A	T	2: 76,554,094 (GRCm39)	W30870R	probably damaging	Het
Unc13b	A	T	4: 43,173,973 (GRCm39)	L1600F	unknown	Het
Vmn1r233	C	T	17: 21,214,417 (GRCm39)	V178M	probably damaging	Het
Vmn2r18	G	A	5: 151,485,526 (GRCm39)	P656L	probably damaging	Het
Vmn2r33	A	T	7: 7,566,862 (GRCm39)	D83E	probably benign	Het
Vps13b	G	A	15: 35,880,059 (GRCm39)	V3045I	probably benign	Het
Wdr25	A	T	12: 108,976,983 (GRCm39)		probably null	Het
Xpo6	A	G	7: 125,719,616 (GRCm39)	V591A	probably benign	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
R3755:Kdm3b	UTSW	18	34,941,349 (GRCm39)	missense	probably benign
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
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'- GAAACTACCTTCTCAAGCGGAG -3'
(R):5'- CTCTTGCTGAGCTACCAACCAG -3'

Sequencing Primer
(F):5'- GCTGCAGCGGTCACAAATC -3'
(R):5'- TTGCTGAGCTACCAACCAGAGTAG -3'

Posted On

2020-09-15