Mutagenetix > Incidental Mutation

Incidental Mutation 'R7876:Polm'

608451

Institutional Source

Beutler Lab

Gene Symbol

Polm

Ensembl Gene

ENSMUSG00000020474

Gene Name

polymerase (DNA directed), mu

Synonyms

Tdt-N, B230309I03Rik

MMRRC Submission

045928-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7876 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5777860-5788016 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5781695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 267 (E267G)

Ref Sequence

ENSEMBL: ENSMUSP00000020767 (fasta)

Gene Model

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

AlphaFold

Q9JIW4

PDB Structure

Polymerase mu in ternary complex with gapped 11mer DNA duplex and bound incoming nucleotide [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000020767
AA Change: E267G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020767
Gene: ENSMUSG00000020474
AA Change: E267G

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: E267G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105463
Gene: ENSMUSG00000020474
AA Change: E267G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,760,439 (GRCm39)	K65R	probably benign	Het
Adprhl1	T	C	8: 13,273,509 (GRCm39)	D1083G	probably benign	Het
Aox1	C	T	1: 58,101,330 (GRCm39)	Q434*	probably null	Het
Atp13a5	T	A	16: 29,140,566 (GRCm39)	N330I	possibly damaging	Het
Brd8	A	G	18: 34,739,740 (GRCm39)	F678L	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C87436	T	A	6: 86,423,411 (GRCm39)		probably null	Het
Cacna1h	A	T	17: 25,594,225 (GRCm39)	I2311K	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cux1	T	C	5: 136,392,161 (GRCm39)	T187A	probably benign	Het
Dip2b	A	G	15: 100,088,922 (GRCm39)	I1031V	probably benign	Het
Efna5	T	C	17: 62,957,929 (GRCm39)	N109S	possibly damaging	Het
Fat2	A	T	11: 55,202,046 (GRCm39)	S343T	probably benign	Het
Fubp1	T	C	3: 151,937,928 (GRCm39)	Y654H	unknown	Het
Gbe1	G	A	16: 70,238,059 (GRCm39)	V282I	probably benign	Het
Grik1	T	C	16: 87,720,121 (GRCm39)	K719E		Het
Grm6	A	T	11: 50,750,457 (GRCm39)	Y540F	probably damaging	Het
Hmcn1	C	T	1: 150,620,722 (GRCm39)	V1163I	probably benign	Het
Igkv4-53	T	A	6: 69,625,987 (GRCm39)	Q60L	possibly damaging	Het
Igkv4-59	A	T	6: 69,415,337 (GRCm39)	S73T	probably damaging	Het
Il1a	A	C	2: 129,142,762 (GRCm39)	W228G	probably damaging	Het
Klk13	A	G	7: 43,370,403 (GRCm39)	D22G	probably benign	Het
Kntc1	T	A	5: 123,913,850 (GRCm39)	C602S	probably damaging	Het
Kras	T	C	6: 145,170,848 (GRCm39)	K176E	probably benign	Het
Krtap5-4	G	A	7: 141,857,585 (GRCm39)	C85Y	unknown	Het
Map3k13	A	G	16: 21,741,069 (GRCm39)	T799A	probably benign	Het
Mfhas1	T	C	8: 36,056,697 (GRCm39)	Y391H	probably damaging	Het
Morf4l1	G	A	9: 89,975,859 (GRCm39)	A311V	possibly damaging	Het
Ms4a8a	T	A	19: 11,056,848 (GRCm39)	Q78L	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nav3	T	C	10: 109,689,359 (GRCm39)	N306S	probably benign	Het
Ncapd3	T	C	9: 26,956,519 (GRCm39)		probably null	Het
Nrg2	T	A	18: 36,330,140 (GRCm39)	Y25F	unknown	Het
Nup153	C	T	13: 46,835,084 (GRCm39)	S1407N	probably benign	Het
Or2c1	T	A	16: 3,656,658 (GRCm39)		probably null	Het
Or4c99	A	G	2: 88,329,999 (GRCm39)	Y190C	probably damaging	Het
Or5b123	A	G	19: 13,596,628 (GRCm39)	Y34C	probably damaging	Het
Pcf11	A	C	7: 92,310,534 (GRCm39)	S485A	probably damaging	Het
Pde8a	A	G	7: 80,973,819 (GRCm39)	D592G	probably damaging	Het
Perm1	G	A	4: 156,302,046 (GRCm39)	G197R	probably damaging	Het
Pigo	A	T	4: 43,020,671 (GRCm39)	M757K	probably benign	Het
Pls1	G	A	9: 95,667,558 (GRCm39)	Q117*	probably null	Het
Plscr2	T	C	9: 92,169,781 (GRCm39)	V77A	probably benign	Het
Pomgnt1	A	T	4: 116,015,106 (GRCm39)	K519M	probably damaging	Het
Ralyl	G	A	3: 14,104,850 (GRCm39)		probably null	Het
Rhbdd3	C	T	11: 5,055,832 (GRCm39)	T338I	possibly damaging	Het
Rnf31	T	C	14: 55,830,534 (GRCm39)		probably null	Het
Slc51a	A	T	16: 32,297,601 (GRCm39)	S99T	probably benign	Het
Sorbs1	A	T	19: 40,285,032 (GRCm39)	L700H	probably damaging	Het
Tdrd7	G	A	4: 46,025,684 (GRCm39)	V835I	probably benign	Het
Tmcc3	T	C	10: 94,414,397 (GRCm39)	V64A	probably benign	Het
Tmprss5	A	G	9: 49,020,391 (GRCm39)	S140G	probably benign	Het
Tspan11	G	T	6: 127,900,629 (GRCm39)	V67F	possibly damaging	Het
Usp42	T	C	5: 143,707,426 (GRCm39)	T252A	probably damaging	Het
Vmn2r97	A	T	17: 19,149,326 (GRCm39)	E238V	probably damaging	Het
Wdpcp	T	A	11: 21,661,486 (GRCm39)	W253R	probably benign	Het
Zdhhc23	A	T	16: 43,789,663 (GRCm39)	V375E	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het
Zmym1	A	T	4: 126,941,496 (GRCm39)	M964K	probably 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
R1723:Polm	UTSW	11	5,784,776 (GRCm39)	missense	probably benign	0.04
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
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'- GTGACAACACTCGCTGAGAAAG -3'
(R):5'- TGGCATTGCATGAAGACAACAC -3'

Sequencing Primer
(F):5'- TCATGGCCAACCCTGGGTC -3'
(R):5'- GACAACACTCTCAGTCAGGGG -3'

Posted On

2019-12-20