Mutagenetix > Incidental Mutation

Incidental Mutation 'R7769:Epb41l2'

598482

Institutional Source

Beutler Lab

Gene Symbol

Epb41l2

Ensembl Gene

ENSMUSG00000019978

Gene Name

erythrocyte membrane protein band 4.1 like 2

Synonyms

Epb4.1l2, 4.1G, D10Ertd398e, NBL2

MMRRC Submission

045825-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R7769 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25235696-25399417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25369471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 597 (T597S)

Ref Sequence

ENSEMBL: ENSMUSP00000055122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053748] [ENSMUST00000092645] [ENSMUST00000217929] [ENSMUST00000217943] [ENSMUST00000218903] [ENSMUST00000220290]

AlphaFold

O70318

Predicted Effect

probably benign
Transcript: ENSMUST00000053748
AA Change: T597S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: T597S

Domain	Start	End	E-Value	Type
B41	207	402	3.22e-76	SMART
FERM_C	406	496	2.15e-39	SMART
FA	499	545	1.93e-18	SMART
low complexity region	555	567	N/A	INTRINSIC
Pfam:SAB	613	661	1.8e-23	PFAM
low complexity region	717	733	N/A	INTRINSIC
low complexity region	751	763	N/A	INTRINSIC
Pfam:4_1_CTD	875	981	1.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092645
AA Change: T597S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: T597S

Domain	Start	End	E-Value	Type
B41	207	402	3.22e-76	SMART
FERM_C	406	496	2.15e-39	SMART
FA	499	545	1.93e-18	SMART
low complexity region	555	567	N/A	INTRINSIC
Pfam:SAB	613	661	6.1e-27	PFAM
low complexity region	717	733	N/A	INTRINSIC
low complexity region	751	763	N/A	INTRINSIC
Pfam:4_1_CTD	869	982	8.2e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217929

Predicted Effect

probably benign
Transcript: ENSMUST00000217943

Predicted Effect

probably benign
Transcript: ENSMUST00000218903

Predicted Effect

probably benign
Transcript: ENSMUST00000220290
AA Change: T13S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (71/74)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	ACCAGCCC	ACC	14: 118,852,682 (GRCm39)		probably null	Het
Abhd14b	T	C	9: 106,328,819 (GRCm39)	Y147H	probably damaging	Het
Adam26b	C	A	8: 43,974,732 (GRCm39)	R90L	probably benign	Het
Agt	A	T	8: 125,291,289 (GRCm39)	M6K	probably benign	Het
Akr1c14	T	C	13: 4,109,644 (GRCm39)	S5P	probably benign	Het
Arhgef38	A	C	3: 132,855,383 (GRCm39)	S235A	unknown	Het
Cabp5	A	G	7: 13,134,658 (GRCm39)	D31G	probably benign	Het
Cacna1h	T	A	17: 25,604,779 (GRCm39)	D1178V	probably damaging	Het
Ccdc88a	A	T	11: 29,432,381 (GRCm39)	E1199D	probably damaging	Het
Cd244a	A	T	1: 171,404,873 (GRCm39)	I242F	probably benign	Het
Clpb	G	T	7: 101,371,924 (GRCm39)	R220L	probably damaging	Het
Cltc	C	T	11: 86,610,319 (GRCm39)	R638H	probably damaging	Het
Cnr1	A	T	4: 33,944,892 (GRCm39)	M427L	probably benign	Het
Ctnnbl1	C	T	2: 157,579,390 (GRCm39)		probably benign	Het
Epb41l3	T	C	17: 69,545,421 (GRCm39)	Y163H	probably damaging	Het
Fgg	A	G	3: 82,920,433 (GRCm39)		probably null	Het
Gm37240	A	T	3: 84,417,232 (GRCm39)	D162E	possibly damaging	Het
Gm44511	T	A	6: 128,797,240 (GRCm39)	T83S	probably benign	Het
Gm6685	T	A	11: 28,289,252 (GRCm39)	Y188F	probably benign	Het
Gprin2	A	T	14: 33,917,570 (GRCm39)	C67S	probably benign	Het
Grk6	A	G	13: 55,598,820 (GRCm39)	D140G	probably benign	Het
Hps3	T	C	3: 20,072,972 (GRCm39)		probably null	Het
Hspb7	T	C	4: 141,151,335 (GRCm39)	V159A	possibly damaging	Het
Ibsp	A	G	5: 104,453,871 (GRCm39)	N70D	probably benign	Het
Ibsp	A	G	5: 104,458,050 (GRCm39)	N196D	probably damaging	Het
Igfn1	A	T	1: 135,910,143 (GRCm39)	F147Y	possibly damaging	Het
Iqca1	T	G	1: 90,005,532 (GRCm39)	D492A	possibly damaging	Het
Klhl42	T	C	6: 146,993,358 (GRCm39)	L110P	possibly damaging	Het
Krt12	C	T	11: 99,308,852 (GRCm39)	R395Q	probably damaging	Het
Lig4	A	T	8: 10,023,629 (GRCm39)	H50Q	possibly damaging	Het
Mttp	A	C	3: 137,808,873 (GRCm39)	L730R	probably damaging	Het
Muc16	T	A	9: 18,571,803 (GRCm39)	I239L	unknown	Het
Myo15a	T	C	11: 60,399,975 (GRCm39)	F1723L		Het
Niban2	A	G	2: 32,809,844 (GRCm39)	T314A	possibly damaging	Het
Nin	T	C	12: 70,090,004 (GRCm39)	D1137G		Het
Nsf	C	T	11: 103,819,665 (GRCm39)	V35M	probably damaging	Het
Numa1	T	A	7: 101,648,207 (GRCm39)	I646K	possibly damaging	Het
Nwd2	A	G	5: 63,961,847 (GRCm39)	N477S	probably damaging	Het
Or1p1	T	A	11: 74,179,589 (GRCm39)	V39E	probably damaging	Het
P4ha3	A	G	7: 99,934,924 (GRCm39)	D62G	probably damaging	Het
Palb2	G	T	7: 121,727,638 (GRCm39)	D77E	probably benign	Het
Pcmtd2	T	C	2: 181,493,494 (GRCm39)	V233A	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pgr	C	T	9: 8,946,856 (GRCm39)	T699I	possibly damaging	Het
Pknox2	C	A	9: 36,806,602 (GRCm39)		probably null	Het
Ppp2r3d	T	C	9: 124,439,087 (GRCm38)	H110R		Het
Psmd11	T	A	11: 80,325,408 (GRCm39)		probably benign	Het
Pyroxd2	T	C	19: 42,736,001 (GRCm39)	N59S	probably benign	Het
Qser1	A	T	2: 104,588,921 (GRCm39)	D1662E	possibly damaging	Het
Rasip1	A	G	7: 45,278,239 (GRCm39)	Y180C	probably damaging	Het
Rbl1	T	C	2: 157,033,900 (GRCm39)	S393G	probably benign	Het
Rtn4r	C	T	16: 17,969,153 (GRCm39)	P194S	probably benign	Het
Ryr1	C	T	7: 28,798,210 (GRCm39)	G944D	probably damaging	Het
Scamp3	A	G	3: 89,085,298 (GRCm39)	D23G	probably damaging	Het
Secisbp2l	CTGGG	C	2: 125,613,465 (GRCm39)		probably benign	Het
Shcbp1	A	G	8: 4,789,232 (GRCm39)	I529T	probably damaging	Het
Slc5a10	T	A	11: 61,564,473 (GRCm39)	D502V	probably damaging	Het
Smad5	T	C	13: 56,880,855 (GRCm39)	I323T	possibly damaging	Het
Spred1	T	C	2: 117,007,930 (GRCm39)	S279P	probably benign	Het
Stag1	T	A	9: 100,826,880 (GRCm39)	V949D	possibly damaging	Het
Stxbp3	A	G	3: 108,708,144 (GRCm39)	S386P	probably benign	Het
Syt14	A	G	1: 192,666,632 (GRCm39)	S91P	unknown	Het
Thpo	C	T	16: 20,544,401 (GRCm39)	A211T	probably benign	Het
Tns1	T	A	1: 73,992,530 (GRCm39)	D716V	probably damaging	Het
Trbv26	A	G	6: 41,204,481 (GRCm39)	Y8C	probably benign	Het
Tshr	A	G	12: 91,505,044 (GRCm39)	I661V	probably damaging	Het
Uvrag	G	A	7: 98,628,928 (GRCm39)	P380S	probably damaging	Het
Vkorc1	G	T	7: 127,493,696 (GRCm39)	Y88*	probably null	Het
Vmn1r63	C	T	7: 5,806,369 (GRCm39)	V88M	probably damaging	Het
Wdsub1	A	G	2: 59,708,763 (GRCm39)	Y37H	probably damaging	Het
Zap70	A	G	1: 36,809,983 (GRCm39)	D31G	probably benign	Het
Zc3h12d	G	A	10: 7,743,390 (GRCm39)	A387T	probably benign	Het
Zfp438	C	T	18: 5,213,377 (GRCm39)	R527H	possibly damaging	Het

Other mutations in Epb41l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Epb41l2	APN	10	25,377,734 (GRCm39)	missense	probably damaging	1.00
IGL00826:Epb41l2	APN	10	25,317,620 (GRCm39)	missense	probably benign	0.07
IGL01312:Epb41l2	APN	10	25,317,485 (GRCm39)	start codon destroyed	probably null	1.00
IGL02123:Epb41l2	APN	10	25,336,742 (GRCm39)	missense	probably damaging	1.00
IGL02448:Epb41l2	APN	10	25,369,493 (GRCm39)	missense	possibly damaging	0.66
R0365:Epb41l2	UTSW	10	25,345,119 (GRCm39)	missense	probably damaging	1.00
R0594:Epb41l2	UTSW	10	25,319,668 (GRCm39)	missense	possibly damaging	0.53
R0826:Epb41l2	UTSW	10	25,380,090 (GRCm39)	missense	probably damaging	1.00
R0837:Epb41l2	UTSW	10	25,383,714 (GRCm39)	missense	probably damaging	1.00
R1243:Epb41l2	UTSW	10	25,364,941 (GRCm39)	missense	possibly damaging	0.81
R1301:Epb41l2	UTSW	10	25,319,800 (GRCm39)	missense	probably damaging	1.00
R1560:Epb41l2	UTSW	10	25,371,334 (GRCm39)	splice site	probably null
R1752:Epb41l2	UTSW	10	25,336,690 (GRCm39)	missense	probably damaging	1.00
R1813:Epb41l2	UTSW	10	25,317,466 (GRCm39)	splice site	probably null
R1966:Epb41l2	UTSW	10	25,317,666 (GRCm39)	missense	probably benign	0.01
R2276:Epb41l2	UTSW	10	25,364,842 (GRCm39)	unclassified	probably benign
R4425:Epb41l2	UTSW	10	25,382,078 (GRCm39)	missense	possibly damaging	0.81
R4445:Epb41l2	UTSW	10	25,319,701 (GRCm39)	missense	possibly damaging	0.92
R4621:Epb41l2	UTSW	10	25,378,038 (GRCm39)	critical splice donor site	probably null
R4720:Epb41l2	UTSW	10	25,347,524 (GRCm39)	missense	probably damaging	1.00
R5026:Epb41l2	UTSW	10	25,360,206 (GRCm39)	missense	possibly damaging	0.94
R5408:Epb41l2	UTSW	10	25,343,992 (GRCm39)	critical splice acceptor site	probably null
R5703:Epb41l2	UTSW	10	25,317,665 (GRCm39)	missense	probably damaging	1.00
R5896:Epb41l2	UTSW	10	25,369,494 (GRCm39)	missense	probably damaging	0.96
R5974:Epb41l2	UTSW	10	25,317,713 (GRCm39)	missense	possibly damaging	0.79
R6073:Epb41l2	UTSW	10	25,377,730 (GRCm39)	missense	probably damaging	1.00
R6182:Epb41l2	UTSW	10	25,383,715 (GRCm39)	missense	probably damaging	1.00
R6229:Epb41l2	UTSW	10	25,375,734 (GRCm39)	missense	possibly damaging	0.73
R6276:Epb41l2	UTSW	10	25,378,022 (GRCm39)	missense	probably damaging	0.98
R6321:Epb41l2	UTSW	10	25,344,026 (GRCm39)	missense	probably damaging	0.98
R6737:Epb41l2	UTSW	10	25,364,916 (GRCm39)	splice site	probably null
R6766:Epb41l2	UTSW	10	25,348,990 (GRCm39)	nonsense	probably null
R6834:Epb41l2	UTSW	10	25,369,502 (GRCm39)	missense	possibly damaging	0.92
R7023:Epb41l2	UTSW	10	25,388,875 (GRCm39)	missense	probably damaging	1.00
R7258:Epb41l2	UTSW	10	25,360,185 (GRCm39)	missense	probably damaging	1.00
R7688:Epb41l2	UTSW	10	25,355,036 (GRCm39)	missense	probably damaging	0.97
R7796:Epb41l2	UTSW	10	25,319,727 (GRCm39)	missense	probably benign	0.15
R8365:Epb41l2	UTSW	10	25,317,584 (GRCm39)	missense	probably benign	0.21
R8490:Epb41l2	UTSW	10	25,380,128 (GRCm39)	missense	probably damaging	1.00
R8676:Epb41l2	UTSW	10	25,319,674 (GRCm39)	missense	probably benign	0.03
R8744:Epb41l2	UTSW	10	25,317,725 (GRCm39)	missense	probably damaging	1.00
R9288:Epb41l2	UTSW	10	25,355,653 (GRCm39)	missense	possibly damaging	0.85
R9650:Epb41l2	UTSW	10	25,369,495 (GRCm39)	missense	probably benign	0.28
R9665:Epb41l2	UTSW	10	25,317,798 (GRCm39)	missense	probably benign
R9707:Epb41l2	UTSW	10	25,378,235 (GRCm39)	missense	probably damaging	1.00
Z1176:Epb41l2	UTSW	10	25,375,800 (GRCm39)	nonsense	probably null
Z1176:Epb41l2	UTSW	10	25,317,618 (GRCm39)	missense	probably benign	0.03
Z1177:Epb41l2	UTSW	10	25,355,639 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGTGCCTGCTGCCTGTTG -3'
(R):5'- TCAAGAGCCCCATGCATTGC -3'

Sequencing Primer
(F):5'- CCTGTTGCTCCTTTGCTTAGGG -3'
(R):5'- TGTGCTTGAAGAGAGCAG -3'

Posted On

2019-11-26