Mutagenetix > Incidental Mutation

Incidental Mutation 'R1259:Pom121l2'

151556

Institutional Source

Beutler Lab

Gene Symbol

Pom121l2

Ensembl Gene

ENSMUSG00000016982

Gene Name

POM121 transmembrane nucleoporin like 2

Synonyms

LOC195236

MMRRC Submission

039326-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R1259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22165364-22172904 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 22166297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 189 (W189*)

Ref Sequence

ENSEMBL: ENSMUSP00000113688 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017126] [ENSMUST00000117882]

AlphaFold

Q5SW25

Predicted Effect

probably null
Transcript: ENSMUST00000017126
AA Change: W189*

SMART Domains

Protein: ENSMUSP00000017126
Gene: ENSMUSG00000016982
AA Change: W189*

Domain	Start	End	E-Value	Type
low complexity region	42	60	N/A	INTRINSIC
Pfam:POM121	162	301	3.5e-24	PFAM
low complexity region	367	379	N/A	INTRINSIC
low complexity region	413	433	N/A	INTRINSIC
low complexity region	517	526	N/A	INTRINSIC
low complexity region	558	572	N/A	INTRINSIC
low complexity region	697	712	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000117882
AA Change: W189*

SMART Domains

Protein: ENSMUSP00000113688
Gene: ENSMUSG00000016982
AA Change: W189*

Domain	Start	End	E-Value	Type
low complexity region	42	60	N/A	INTRINSIC
Pfam:POM121	162	301	2e-24	PFAM
low complexity region	367	379	N/A	INTRINSIC
low complexity region	413	433	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	A	8: 44,021,684 (GRCm39)	D602V	probably benign	Het
Adam26a	T	C	8: 44,021,750 (GRCm39)	D580G	possibly damaging	Het
B4galt6	T	G	18: 20,839,559 (GRCm39)	E125A	possibly damaging	Het
Dnm1l	A	G	16: 16,141,870 (GRCm39)	I292T	possibly damaging	Het
Elp3	A	T	14: 65,785,388 (GRCm39)	I471K	probably damaging	Het
Fbxw13	A	T	9: 109,014,439 (GRCm39)	V83E	probably damaging	Het
Gm5422	T	C	10: 31,125,111 (GRCm39)		noncoding transcript	Het
Krtap6-5	C	T	16: 88,844,607 (GRCm39)	R42H	unknown	Het
Lpcat2b	C	T	5: 107,581,763 (GRCm39)	A364V	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Lypd9	A	G	11: 58,338,296 (GRCm39)	I32T	probably benign	Het
Med7	C	G	11: 46,331,460 (GRCm39)	I18M	probably damaging	Het
Muc6	T	A	7: 141,226,464 (GRCm39)		probably benign	Het
Or8b42	T	A	9: 38,342,169 (GRCm39)	L197Q	probably damaging	Het
Or8k16	T	A	2: 85,519,875 (GRCm39)	I34N	probably damaging	Het
Pbrm1	T	C	14: 30,796,771 (GRCm39)	F871L	probably damaging	Het
Pgbd5	T	A	8: 125,097,324 (GRCm39)	D493V	probably damaging	Het
Pik3cd	G	A	4: 149,735,105 (GRCm39)	R1046*	probably null	Het
Prex2	C	A	1: 11,359,494 (GRCm39)	N1567K	probably damaging	Het
Prl	A	G	13: 27,245,472 (GRCm39)		probably null	Het
Ptpro	T	C	6: 137,369,739 (GRCm39)	V517A	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Vmn2r12	T	A	5: 109,239,763 (GRCm39)	I267F	probably damaging	Het
Wasf3	T	C	5: 146,388,786 (GRCm39)	V80A	probably damaging	Het

Other mutations in Pom121l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02104:Pom121l2	APN	13	22,166,445 (GRCm39)	missense	possibly damaging	0.70
IGL02223:Pom121l2	APN	13	22,166,265 (GRCm39)	missense	probably benign	0.01
R0401:Pom121l2	UTSW	13	22,166,395 (GRCm39)	missense	probably benign	0.01
R0402:Pom121l2	UTSW	13	22,172,649 (GRCm39)	splice site	probably benign
R0437:Pom121l2	UTSW	13	22,167,375 (GRCm39)	missense	possibly damaging	0.72
R0575:Pom121l2	UTSW	13	22,168,338 (GRCm39)	missense	probably damaging	0.99
R0605:Pom121l2	UTSW	13	22,166,206 (GRCm39)	missense	probably damaging	1.00
R0892:Pom121l2	UTSW	13	22,166,644 (GRCm39)	missense	possibly damaging	0.49
R0992:Pom121l2	UTSW	13	22,166,929 (GRCm39)	missense	probably benign	0.01
R1564:Pom121l2	UTSW	13	22,167,523 (GRCm39)	missense	possibly damaging	0.86
R1603:Pom121l2	UTSW	13	22,167,514 (GRCm39)	missense	probably damaging	1.00
R1836:Pom121l2	UTSW	13	22,167,954 (GRCm39)	missense	probably benign	0.03
R1970:Pom121l2	UTSW	13	22,167,642 (GRCm39)	missense	probably damaging	0.98
R2018:Pom121l2	UTSW	13	22,166,904 (GRCm39)	missense	possibly damaging	0.54
R2180:Pom121l2	UTSW	13	22,166,145 (GRCm39)	missense	probably benign	0.08
R2277:Pom121l2	UTSW	13	22,168,417 (GRCm39)	missense	probably benign
R2365:Pom121l2	UTSW	13	22,167,954 (GRCm39)	missense	probably benign	0.20
R3951:Pom121l2	UTSW	13	22,166,298 (GRCm39)	missense	probably damaging	1.00
R4371:Pom121l2	UTSW	13	22,166,409 (GRCm39)	missense	probably benign	0.01
R4574:Pom121l2	UTSW	13	22,168,572 (GRCm39)	missense	probably benign	0.02
R4593:Pom121l2	UTSW	13	22,168,623 (GRCm39)	missense	probably damaging	1.00
R4983:Pom121l2	UTSW	13	22,167,984 (GRCm39)	missense	probably benign	0.02
R5320:Pom121l2	UTSW	13	22,166,015 (GRCm39)	nonsense	probably null
R5661:Pom121l2	UTSW	13	22,168,425 (GRCm39)	missense	possibly damaging	0.90
R5662:Pom121l2	UTSW	13	22,166,358 (GRCm39)	missense	probably benign	0.01
R5908:Pom121l2	UTSW	13	22,165,984 (GRCm39)	missense	probably damaging	0.99
R5980:Pom121l2	UTSW	13	22,167,546 (GRCm39)	missense	probably damaging	0.96
R6145:Pom121l2	UTSW	13	22,166,472 (GRCm39)	nonsense	probably null
R6160:Pom121l2	UTSW	13	22,167,838 (GRCm39)	missense	possibly damaging	0.52
R6327:Pom121l2	UTSW	13	22,166,502 (GRCm39)	missense	probably damaging	1.00
R6504:Pom121l2	UTSW	13	22,167,631 (GRCm39)	missense	possibly damaging	0.55
R6745:Pom121l2	UTSW	13	22,167,868 (GRCm39)	missense	probably benign	0.00
R6750:Pom121l2	UTSW	13	22,166,107 (GRCm39)	missense	probably damaging	1.00
R6752:Pom121l2	UTSW	13	22,165,939 (GRCm39)	missense	probably damaging	0.99
R6796:Pom121l2	UTSW	13	22,167,694 (GRCm39)	missense	probably benign	0.09
R6984:Pom121l2	UTSW	13	22,166,191 (GRCm39)	missense	probably benign	0.33
R7284:Pom121l2	UTSW	13	22,166,775 (GRCm39)	missense	probably damaging	1.00
R7287:Pom121l2	UTSW	13	22,168,502 (GRCm39)	missense	probably benign	0.16
R7568:Pom121l2	UTSW	13	22,166,796 (GRCm39)	missense	probably benign	0.03
R7624:Pom121l2	UTSW	13	22,167,699 (GRCm39)	missense	probably damaging	0.97
R7832:Pom121l2	UTSW	13	22,168,048 (GRCm39)	missense	possibly damaging	0.49
R7956:Pom121l2	UTSW	13	22,167,316 (GRCm39)	missense	probably damaging	1.00
R8103:Pom121l2	UTSW	13	22,166,544 (GRCm39)	missense	probably benign	0.00
R8506:Pom121l2	UTSW	13	22,167,789 (GRCm39)	missense	probably benign	0.04
R9167:Pom121l2	UTSW	13	22,167,160 (GRCm39)	missense	probably damaging	0.97
R9313:Pom121l2	UTSW	13	22,168,506 (GRCm39)	missense	probably benign	0.09
R9332:Pom121l2	UTSW	13	22,165,852 (GRCm39)	missense	probably damaging	1.00
R9463:Pom121l2	UTSW	13	22,168,402 (GRCm39)	missense	probably benign	0.18
Z1177:Pom121l2	UTSW	13	22,172,656 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACATGGAGTCCGGTGACAGTCAAG -3'
(R):5'- TGGCAAGGTATAGTTAGCAGGTCCC -3'

Sequencing Primer
(F):5'- TCCGGTGACAGTCAAGATCTC -3'
(R):5'- AGGTGAGAATTAGGACTCTCTCC -3'

Posted On

2014-01-29