Mutagenetix > Incidental Mutation

Incidental Mutation 'R1723:Polm'

191622

Institutional Source

Beutler Lab

Gene Symbol

Polm

Ensembl Gene

ENSMUSG00000020474

Gene Name

polymerase (DNA directed), mu

Synonyms

Tdt-N, B230309I03Rik

MMRRC Submission

039755-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5777860-5788016 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5784776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 227 (Q227L)

Ref Sequence

ENSEMBL: ENSMUSP00000105463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020767] [ENSMUST00000109837]

AlphaFold

Q9JIW4

Predicted Effect

probably benign
Transcript: ENSMUST00000020767
AA Change: Q227L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000020767
Gene: ENSMUSG00000020474
AA Change: Q227L

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
PDB:2HTF\|A	27	124	2e-42	PDB
POLXc	150	495	1.78e-115	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109837
AA Change: Q227L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105463
Gene: ENSMUSG00000020474
AA Change: Q227L

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
Blast:BRCT	27	112	1e-45	BLAST
PDB:2HTF\|A	27	124	4e-42	PDB
POLXc	150	500	8.68e-78	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124564

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156913

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display an apparently normal phenotype. However, B cell maturation and proliferation is abnormal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	G	T	6: 85,605,735 (GRCm39)	G2462C	probably damaging	Het
Anapc5	T	C	5: 122,937,406 (GRCm39)	E464G	probably damaging	Het
Aoc3	T	A	11: 101,227,261 (GRCm39)	V378E	possibly damaging	Het
Atp13a5	T	A	16: 29,051,551 (GRCm39)	K1152I	possibly damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Calcoco1	C	A	15: 102,627,988 (GRCm39)	G49C	probably damaging	Het
Cd70	T	C	17: 57,453,401 (GRCm39)	T88A	possibly damaging	Het
Cpeb1	C	T	7: 81,085,974 (GRCm39)	R56Q	probably benign	Het
Dglucy	A	G	12: 100,808,938 (GRCm39)	Y212C	probably damaging	Het
Dnhd1	C	A	7: 105,364,127 (GRCm39)	P4160T	possibly damaging	Het
Ecel1	T	C	1: 87,082,143 (GRCm39)	D190G	probably benign	Het
Exoc6b	A	G	6: 85,046,326 (GRCm39)	L21P	probably damaging	Het
Fam110c	A	G	12: 31,124,394 (GRCm39)	R119G	unknown	Het
Gask1b	T	A	3: 79,843,970 (GRCm39)	N32K	probably benign	Het
Gm42791	C	A	5: 148,896,311 (GRCm39)		probably benign	Het
Hpcal4	A	G	4: 123,084,532 (GRCm39)	I154V	probably benign	Het
Itgb1	A	G	8: 129,452,519 (GRCm39)	D728G	probably damaging	Het
Kdm5d	A	T	Y: 927,753 (GRCm39)	D701V	probably damaging	Het
Kif18a	A	G	2: 109,133,227 (GRCm39)	K448E	probably damaging	Het
Kif26a	T	C	12: 112,140,292 (GRCm39)	F507S	possibly damaging	Het
Kmt2c	C	T	5: 25,520,003 (GRCm39)	G2036R	probably damaging	Het
Lrrc43	T	A	5: 123,630,276 (GRCm39)		probably benign	Het
Map3k20	T	C	2: 72,219,836 (GRCm39)	I256T	probably damaging	Het
Med29	T	A	7: 28,092,130 (GRCm39)		probably benign	Het
Mob3b	A	G	4: 34,954,026 (GRCm39)	C215R	probably damaging	Het
Mtf2	T	C	5: 108,235,936 (GRCm39)	Y87H	probably damaging	Het
Myo18a	G	A	11: 77,744,140 (GRCm39)	R1834K	probably damaging	Het
Nlrc4	T	A	17: 74,748,903 (GRCm39)	D779V	probably damaging	Het
Or51q1c	T	C	7: 103,652,518 (GRCm39)	F18S	probably damaging	Het
Otud3	T	C	4: 138,625,329 (GRCm39)	T242A	probably damaging	Het
Pcare	A	T	17: 72,057,373 (GRCm39)	F768Y	probably damaging	Het
Pnliprp1	T	A	19: 58,720,574 (GRCm39)	M150K	possibly damaging	Het
Poln	A	G	5: 34,280,016 (GRCm39)	V282A	probably benign	Het
Ppfia2	T	A	10: 106,751,533 (GRCm39)		probably null	Het
Rad51	T	G	2: 118,954,295 (GRCm39)	M168R	probably benign	Het
Senp2	A	G	16: 21,846,792 (GRCm39)	T266A	probably benign	Het
Sfswap	A	G	5: 129,616,758 (GRCm39)	T401A	probably benign	Het
Slc35a4	C	A	18: 36,815,788 (GRCm39)	T206K	possibly damaging	Het
Slc40a1	A	G	1: 45,963,921 (GRCm39)	S23P	probably damaging	Het
Spef2	T	C	15: 9,614,295 (GRCm39)	K1217R	probably damaging	Het
St18	A	C	1: 6,880,909 (GRCm39)		probably benign	Het
Tdrd6	T	C	17: 43,939,218 (GRCm39)	D610G	possibly damaging	Het
Tmem163	C	A	1: 127,479,108 (GRCm39)	R137L	probably damaging	Het
Tmem94	T	A	11: 115,685,574 (GRCm39)	D942E	probably damaging	Het
Ttn	T	A	2: 76,580,754 (GRCm39)	I23380F	possibly damaging	Het
Uckl1	T	A	2: 181,212,393 (GRCm39)		probably null	Het
Vav2	T	C	2: 27,208,976 (GRCm39)	D99G	possibly damaging	Het
Vmn2r30	T	A	7: 7,337,259 (GRCm39)	I126F	probably benign	Het
Zbtb41	A	T	1: 139,351,301 (GRCm39)	Q138L	probably benign	Het
Zfp599	T	C	9: 22,169,361 (GRCm39)	Y37C	probably damaging	Het
Zfp784	T	A	7: 5,038,782 (GRCm39)	T259S	possibly damaging	Het
Zfp954	T	C	7: 7,118,837 (GRCm39)	S236G	probably benign	Het
Zng1	A	G	19: 24,925,458 (GRCm39)	V166A	possibly damaging	Het

Other mutations in Polm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02184:Polm	APN	11	5,780,137 (GRCm39)	missense	probably benign	0.00
gott	UTSW	11	5,779,512 (GRCm39)	missense	possibly damaging	0.46
lobet	UTSW	11	5,779,491 (GRCm39)	missense	probably damaging	1.00
IGL02988:Polm	UTSW	11	5,786,343 (GRCm39)	missense	probably benign	0.02
R0626:Polm	UTSW	11	5,786,207 (GRCm39)	missense	probably damaging	0.97
R0736:Polm	UTSW	11	5,785,495 (GRCm39)	missense	possibly damaging	0.94
R1893:Polm	UTSW	11	5,785,574 (GRCm39)	missense	possibly damaging	0.65
R2473:Polm	UTSW	11	5,779,881 (GRCm39)	missense	possibly damaging	0.94
R3812:Polm	UTSW	11	5,779,512 (GRCm39)	missense	possibly damaging	0.46
R4676:Polm	UTSW	11	5,785,749 (GRCm39)	nonsense	probably null
R4705:Polm	UTSW	11	5,787,663 (GRCm39)	missense	possibly damaging	0.66
R4988:Polm	UTSW	11	5,787,618 (GRCm39)	missense	probably damaging	0.98
R5276:Polm	UTSW	11	5,779,393 (GRCm39)	missense	probably benign	0.16
R6401:Polm	UTSW	11	5,779,491 (GRCm39)	missense	probably damaging	1.00
R6783:Polm	UTSW	11	5,785,534 (GRCm39)	missense	probably damaging	1.00
R7876:Polm	UTSW	11	5,781,695 (GRCm39)	missense	probably benign	0.00
R7961:Polm	UTSW	11	5,780,155 (GRCm39)	missense	possibly damaging	0.50
R8151:Polm	UTSW	11	5,787,906 (GRCm39)	unclassified	probably benign
R8184:Polm	UTSW	11	5,781,707 (GRCm39)	missense	possibly damaging	0.94
R9108:Polm	UTSW	11	5,779,872 (GRCm39)	missense	probably benign	0.00
R9283:Polm	UTSW	11	5,779,050 (GRCm39)	missense	probably damaging	0.99
R9430:Polm	UTSW	11	5,784,749 (GRCm39)	missense	probably damaging	0.98
R9570:Polm	UTSW	11	5,779,713 (GRCm39)	missense	probably damaging	1.00
R9651:Polm	UTSW	11	5,781,732 (GRCm39)	missense	probably damaging	1.00
X0018:Polm	UTSW	11	5,780,158 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TGATACCAGAGACCAGAGATGGCAC -3'
(R):5'- GGCACAGTCTCAGTTTCCAAGTCC -3'

Sequencing Primer
(F):5'- cctgttccatcaccgcc -3'
(R):5'- AGTTTCCAAGTCCTGCTGG -3'

Posted On

2014-05-14