Mutagenetix > Incidental Mutation

Incidental Mutation 'R1601:Kdm3b'

176183

Institutional Source

Beutler Lab

Gene Symbol

Kdm3b

Ensembl Gene

ENSMUSG00000038773

Gene Name

KDM3B lysine (K)-specific demethylase 3B

Synonyms

Jmjd1b, 5830462I21Rik, JHDM2B

MMRRC Submission

039638-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R1601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34910100-34971713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34941784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 625 (Q625R)

Ref Sequence

ENSEMBL: ENSMUSP00000037628 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043775
AA Change: Q625R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037628
Gene: ENSMUSG00000038773
AA Change: Q625R

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: ENSMUST00000224065

Predicted Effect

probably benign
Transcript: ENSMUST00000224715

Predicted Effect

probably damaging
Transcript: ENSMUST00000225195
AA Change: Q425R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,546 (GRCm39)	S169N	probably benign	Het
Adgra2	T	C	8: 27,600,046 (GRCm39)		probably null	Het
Adgrb2	T	C	4: 129,886,630 (GRCm39)	S257P	probably benign	Het
Adgre1	A	G	17: 57,748,353 (GRCm39)	K518E	probably benign	Het
Anxa7	A	T	14: 20,514,683 (GRCm39)	Y64*	probably null	Het
Arhgef7	A	G	8: 11,832,638 (GRCm39)		probably null	Het
Cdc42bpa	T	A	1: 179,892,566 (GRCm39)	Y243*	probably null	Het
Cdk14	C	T	5: 5,185,378 (GRCm39)	V176M	probably damaging	Het
Cnbd2	A	G	2: 156,175,551 (GRCm39)	E54G	probably damaging	Het
Crx	T	C	7: 15,601,736 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,611 (GRCm39)	F511L	possibly damaging	Het
Ddx11	A	G	17: 66,457,380 (GRCm39)	M810V	probably damaging	Het
Dock10	T	C	1: 80,527,519 (GRCm39)	T1077A	probably benign	Het
Dop1a	G	A	9: 86,418,303 (GRCm39)	D2011N	probably damaging	Het
Ehhadh	T	A	16: 21,585,158 (GRCm39)	H241L	probably benign	Het
Elp1	T	A	4: 56,774,756 (GRCm39)	K740*	probably null	Het
Enah	A	T	1: 181,747,185 (GRCm39)	L523*	probably null	Het
Fabp3	T	C	4: 130,202,641 (GRCm39)	L24P	probably benign	Het
Fat2	A	G	11: 55,172,836 (GRCm39)	S2626P	probably benign	Het
Fbxo4	A	G	15: 3,998,447 (GRCm39)	M337T	possibly damaging	Het
Gas6	G	T	8: 13,515,786 (GRCm39)	T662N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Hrh4	G	A	18: 13,148,955 (GRCm39)	V106I	possibly damaging	Het
Ido2	G	T	8: 25,066,205 (GRCm39)	H20Q	possibly damaging	Het
Itga10	G	T	3: 96,560,974 (GRCm39)	R613L	possibly damaging	Het
Itsn2	T	C	12: 4,708,452 (GRCm39)	S836P	probably benign	Het
Kcng3	A	T	17: 83,895,768 (GRCm39)	C233S	probably damaging	Het
Kidins220	A	G	12: 25,055,087 (GRCm39)	S553G	probably benign	Het
Krt82	A	T	15: 101,453,588 (GRCm39)	I266N	probably damaging	Het
Lama5	A	T	2: 179,839,538 (GRCm39)	L736Q	probably damaging	Het
Lnx2	A	G	5: 146,970,329 (GRCm39)	C138R	probably damaging	Het
Mcm5	T	C	8: 75,845,982 (GRCm39)	C397R	possibly damaging	Het
Me1	A	C	9: 86,560,065 (GRCm39)	Y52D	probably damaging	Het
Muc4	C	A	16: 32,575,875 (GRCm39)		probably benign	Het
Myo18b	G	T	5: 113,019,364 (GRCm39)	Q638K	possibly damaging	Het
Ncapd2	A	G	6: 125,162,735 (GRCm39)	L170P	probably damaging	Het
Neb	A	T	2: 52,177,264 (GRCm39)	L1359*	probably null	Het
Nomo1	C	A	7: 45,696,379 (GRCm39)	S299Y	probably damaging	Het
Onecut1	A	T	9: 74,769,973 (GRCm39)	H132L	probably benign	Het
Or2b2	C	A	13: 21,887,396 (GRCm39)	T75K	probably damaging	Het
Or2w3	A	T	11: 58,556,903 (GRCm39)	R173W	probably damaging	Het
Or4e2	A	C	14: 52,687,899 (GRCm39)	T10P	probably benign	Het
Or7a41	A	T	10: 78,871,338 (GRCm39)	Y236F	possibly damaging	Het
Paqr3	A	G	5: 97,259,248 (GRCm39)	Y19H	probably benign	Het
Prdx5	T	C	19: 6,884,926 (GRCm39)	H140R	possibly damaging	Het
Prox1	T	C	1: 189,893,203 (GRCm39)	D414G	probably damaging	Het
Ptprh	T	G	7: 4,555,637 (GRCm39)	E774A	probably damaging	Het
Rnpepl1	A	T	1: 92,844,944 (GRCm39)	D412V	possibly damaging	Het
Sars2	C	T	7: 28,448,396 (GRCm39)	T259M	probably benign	Het
Sbf2	T	C	7: 109,939,283 (GRCm39)		probably null	Het
Sbno2	C	T	10: 79,896,326 (GRCm39)	R898H	probably damaging	Het
Smox	C	A	2: 131,362,094 (GRCm39)	T172N	probably damaging	Het
Taf7l2	T	C	10: 115,949,521 (GRCm39)	S2G	probably damaging	Het
Tdrd9	C	T	12: 111,989,687 (GRCm39)	R341*	probably null	Het
Thrap3	C	G	4: 126,073,894 (GRCm39)	G284A	probably damaging	Het
Tmtc4	A	G	14: 123,182,238 (GRCm39)	V271A	probably benign	Het
Trank1	A	G	9: 111,202,545 (GRCm39)	T1637A	probably damaging	Het
Tspan5	T	A	3: 138,602,596 (GRCm39)	I166N	probably damaging	Het
Vps13b	T	C	15: 35,642,582 (GRCm39)	V1398A	probably benign	Het
Xbp1	C	T	11: 5,471,975 (GRCm39)	R34W	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
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'- TGCATGTCCCAAAATGTACCCAGC -3'
(R):5'- ACCAGATACCAGCTTGGAGGAGTC -3'

Sequencing Primer
(F):5'- AACTACCTGAGCAGGGTTTC -3'
(R):5'- CTTTGCTAAAGGTGCAGACTC -3'

Posted On

2014-04-24