Mutagenetix > Incidental Mutation

Incidental Mutation 'R1486:Kdm3b'

163500

Institutional Source

Beutler Lab

Gene Symbol

Kdm3b

Ensembl Gene

ENSMUSG00000038773

Gene Name

KDM3B lysine (K)-specific demethylase 3B

Synonyms

Jmjd1b, 5830462I21Rik, JHDM2B

MMRRC Submission

039539-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R1486 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34910100-34971713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34967357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 1721 (F1721I)

Ref Sequence

ENSEMBL: ENSMUSP00000037628 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043775
AA Change: F1721I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: F1721I

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: ENSMUST00000223567

Predicted Effect

probably benign
Transcript: ENSMUST00000225195

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730015C16Rik	A	G	4: 108,705,143 (GRCm39)	E19G	probably benign	Het
A730018C14Rik	T	C	12: 112,382,129 (GRCm39)		noncoding transcript	Het
Acrbp	T	A	6: 125,027,585 (GRCm39)	Y78N	probably damaging	Het
Adamtsl4	T	C	3: 95,589,166 (GRCm39)	S422G	probably benign	Het
Apba2	T	C	7: 64,386,696 (GRCm39)	V429A	probably damaging	Het
Atf6	A	G	1: 170,622,260 (GRCm39)	C454R	probably damaging	Het
Bhlhe40	T	C	6: 108,641,890 (GRCm39)	I278T	probably damaging	Het
Birc6	G	T	17: 74,946,815 (GRCm39)	V2845L	probably damaging	Het
Card11	T	C	5: 140,862,274 (GRCm39)	I1008V	probably benign	Het
Catsperg1	C	A	7: 28,884,920 (GRCm39)	K900N	probably damaging	Het
Cep20	A	G	16: 14,118,004 (GRCm39)	V172A	probably benign	Het
Chek2	T	G	5: 110,989,093 (GRCm39)		probably benign	Het
Dnaaf9	A	G	2: 130,579,338 (GRCm39)	L633P	probably damaging	Het
Dnah9	A	T	11: 65,725,098 (GRCm39)	S4352T	probably damaging	Het
Eif3c	C	T	7: 126,163,893 (GRCm39)	R50Q	probably damaging	Het
Eml6	A	C	11: 29,755,114 (GRCm39)	I887S	possibly damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Grm4	A	G	17: 27,653,691 (GRCm39)	L706P	probably damaging	Het
Irak3	T	C	10: 119,978,966 (GRCm39)	D495G	probably damaging	Het
Itga9	T	G	9: 118,455,518 (GRCm39)	V64G	probably damaging	Het
Iws1	T	C	18: 32,230,309 (GRCm39)	I759T	probably damaging	Het
Lrrc8c	T	A	5: 105,755,395 (GRCm39)	V390E	probably damaging	Het
Mki67	G	A	7: 135,301,449 (GRCm39)	T1195I	probably benign	Het
Mphosph8	C	T	14: 56,926,496 (GRCm39)	T646I	probably damaging	Het
Ncdn	A	T	4: 126,642,391 (GRCm39)	V422D	probably damaging	Het
Nrg1	T	C	8: 32,308,372 (GRCm39)	E548G	probably damaging	Het
Nt5el	T	C	13: 105,246,291 (GRCm39)	V284A	probably benign	Het
Nup37	T	C	10: 87,984,116 (GRCm39)	Y11H	probably damaging	Het
Or1ad1	G	A	11: 50,875,608 (GRCm39)	V27I	probably benign	Het
Or51f1e	A	T	7: 102,747,637 (GRCm39)	I230F	probably damaging	Het
Or52s19	T	A	7: 103,008,201 (GRCm39)	M67L	possibly damaging	Het
Or8j3c	T	A	2: 86,253,825 (GRCm39)	H65L	probably damaging	Het
Pcgf1	T	G	6: 83,056,107 (GRCm39)	S70R	probably damaging	Het
Potefam1	T	G	2: 111,030,703 (GRCm39)	Q402P	possibly damaging	Het
Prps1l3	C	T	12: 57,285,573 (GRCm39)	A121V	probably benign	Het
Rasal1	T	C	5: 120,792,917 (GRCm39)	Y57H	probably damaging	Het
Rbm12b2	A	G	4: 12,094,841 (GRCm39)	R567G	probably benign	Het
Rep15	T	A	6: 146,934,577 (GRCm39)	F139I	probably damaging	Het
Ros1	T	C	10: 52,048,954 (GRCm39)	Y92C	probably damaging	Het
Sin3b	A	G	8: 73,477,141 (GRCm39)	T803A	probably benign	Het
Skint11	G	A	4: 114,052,015 (GRCm39)		probably null	Het
Sobp	T	G	10: 42,898,518 (GRCm39)	S356R	probably benign	Het
Spats2l	T	C	1: 57,939,970 (GRCm39)	I228T	probably damaging	Het
Sqor	G	A	2: 122,649,565 (GRCm39)		probably null	Het
Stox1	T	C	10: 62,500,415 (GRCm39)	D715G	probably benign	Het
Tln2	C	A	9: 67,219,121 (GRCm39)	G275W	probably damaging	Het
Tmc5	C	T	7: 118,272,655 (GRCm39)	P942S	probably benign	Het
Tor4a	A	T	2: 25,084,691 (GRCm39)	I404N	possibly damaging	Het
Ttc3	G	A	16: 94,248,988 (GRCm39)	R1162Q	probably damaging	Het
Zfp451	T	C	1: 33,816,808 (GRCm39)	K164E	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
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
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'- ATTGCTCAAAGCCAGTATGGGAGAC -3'
(R):5'- TGGAACTTGTGATACTTGCCCTGC -3'

Sequencing Primer
(F):5'- TATGGGAGACATAACACGTCTCAC -3'
(R):5'- gctggaaataggagggttagg -3'

Posted On

2014-03-28