Mutagenetix > Incidental Mutation

Incidental Mutation 'R7783:Epb42'

599357

Institutional Source

Beutler Lab

Gene Symbol

Epb42

Ensembl Gene

ENSMUSG00000023216

Gene Name

erythrocyte membrane protein band 4.2

Synonyms

Epb4.2

MMRRC Submission

045839-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7783 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120848372-120867358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 120864916 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 58 (K58N)

Ref Sequence

ENSEMBL: ENSMUSP00000099548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023987] [ENSMUST00000102490]

AlphaFold

P49222

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023987
AA Change: K58N

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023987
Gene: ENSMUSG00000023216
AA Change: K58N

Domain	Start	End	E-Value	Type
Pfam:Transglut_N	5	126	8.9e-35	PFAM
TGc	260	353	3.52e-27	SMART
low complexity region	442	458	N/A	INTRINSIC
Pfam:Transglut_C	475	552	5.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102490
AA Change: K58N

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216
AA Change: K58N

Domain	Start	End	E-Value	Type
Pfam:Transglut_N	6	124	5.8e-34	PFAM
TGc	260	353	3.52e-27	SMART
low complexity region	442	458	N/A	INTRINSIC
Pfam:Transglut_C	475	580	8e-23	PFAM
Pfam:Transglut_C	588	686	8.8e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is the key component of a macromolecular complex involved in the structure of erythrocytes. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit erythrocytic abnormalities including mild spherocytosis, altered ion transport, and dehydration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	G	T	5: 124,216,875 (GRCm39)	Y447*	probably null	Het
Abl2	T	C	1: 156,386,641 (GRCm39)	V8A	probably benign	Het
Adam33	C	T	2: 130,900,257 (GRCm39)	R103K	unknown	Het
Adamts13	G	T	2: 26,880,597 (GRCm39)	A727S	not run	Het
Ajm1	A	T	2: 25,467,820 (GRCm39)	L697Q	probably damaging	Het
Alpk2	A	T	18: 65,439,325 (GRCm39)	C689*	probably null	Het
Amt	C	T	9: 108,174,414 (GRCm39)	Q60*	probably null	Het
Ankrd12	A	G	17: 66,334,245 (GRCm39)		probably null	Het
Ankrd28	A	T	14: 31,428,770 (GRCm39)	N920K	probably damaging	Het
Ankrd36	T	C	11: 5,585,359 (GRCm39)	L390P	probably damaging	Het
Arvcf	T	G	16: 18,207,063 (GRCm39)	H7Q	probably benign	Het
Asns	A	G	6: 7,677,978 (GRCm39)	S367P	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
C7	T	A	15: 5,037,192 (GRCm39)	H562L	probably benign	Het
Ccdc77	T	C	6: 120,327,334 (GRCm39)	D37G	probably damaging	Het
Cdc14a	C	T	3: 116,198,236 (GRCm39)	A58T	probably damaging	Het
Cdc42bpb	C	T	12: 111,302,459 (GRCm39)		probably null	Het
Cilk1	G	T	9: 78,042,927 (GRCm39)	V51F	probably damaging	Het
Corin	A	T	5: 72,458,967 (GRCm39)	F1068L	probably benign	Het
Ercc3	T	A	18: 32,381,296 (GRCm39)	S371T	probably damaging	Het
Fam193a	A	C	5: 34,588,524 (GRCm39)	K358Q	probably damaging	Het
Fem1a	G	A	17: 56,564,522 (GRCm39)	C205Y	probably benign	Het
Fh1	G	A	1: 175,439,744 (GRCm39)	T233M	probably damaging	Het
Ftsj3	CCTTCTTCTTCTTCTTCT	CCTTCTTCTTCTTCT	11: 106,143,377 (GRCm39)		probably benign	Het
Gabra6	T	C	11: 42,207,289 (GRCm39)	N265S	probably damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Grm6	T	A	11: 50,753,909 (GRCm39)	C738S	probably damaging	Het
Gtsf1	C	T	15: 103,336,996 (GRCm39)		probably benign	Het
Hcrtr2	T	A	9: 76,140,196 (GRCm39)	Y364F	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,336 (GRCm39)	I374V	probably benign	Het
Il31ra	A	T	13: 112,677,785 (GRCm39)	F250L	probably benign	Het
Iqgap1	A	G	7: 80,458,807 (GRCm39)	V37A	probably benign	Het
Izumo3	A	T	4: 92,033,260 (GRCm39)	I182K	probably damaging	Het
Kidins220	G	A	12: 25,038,555 (GRCm39)	A36T	probably damaging	Het
Lrrtm1	G	T	6: 77,221,236 (GRCm39)	R231L	probably damaging	Het
Mical2	A	T	7: 112,012,183 (GRCm39)	S678C	probably damaging	Het
Mme	T	G	3: 63,272,288 (GRCm39)	F629C	probably damaging	Het
Muc5b	T	A	7: 141,411,078 (GRCm39)	H1341Q	unknown	Het
Or13a28	A	G	7: 140,217,637 (GRCm39)	T8A	possibly damaging	Het
Or13p5	T	A	4: 118,592,099 (GRCm39)	D124E	probably damaging	Het
Or2y1e	A	G	11: 49,219,029 (GRCm39)	S264G	probably benign	Het
Or5e1	A	T	7: 108,354,776 (GRCm39)	T238S	probably damaging	Het
Or5p70	A	G	7: 107,995,296 (GRCm39)	H323R	probably benign	Het
Parm1	A	T	5: 91,741,724 (GRCm39)	M31L	probably benign	Het
Pcdhb18	G	A	18: 37,622,874 (GRCm39)	C68Y	probably benign	Het
Pkn3	A	T	2: 29,969,634 (GRCm39)	E35V	probably damaging	Het
Pla2g4a	A	T	1: 149,748,495 (GRCm39)	Y238N	probably damaging	Het
Pld6	T	C	11: 59,678,097 (GRCm39)	D122G	probably damaging	Het
Prag1	G	T	8: 36,570,409 (GRCm39)	A331S	possibly damaging	Het
Rbm44	A	G	1: 91,096,551 (GRCm39)	D970G	probably benign	Het
Rps6kc1	A	G	1: 190,505,851 (GRCm39)	V1037A	probably benign	Het
Slc12a7	T	C	13: 73,953,588 (GRCm39)	V766A	probably benign	Het
Spata18	A	G	5: 73,825,953 (GRCm39)	T87A		Het
St3gal3	T	C	4: 117,797,320 (GRCm39)	M308V	probably benign	Het
Stx19	T	C	16: 62,642,649 (GRCm39)	L155S	probably benign	Het
Tespa1	A	T	10: 130,192,752 (GRCm39)	T145S	probably damaging	Het
Timm21	A	C	18: 84,965,846 (GRCm39)	F221V	possibly damaging	Het
Tlr1	A	T	5: 65,082,264 (GRCm39)	F771Y	probably damaging	Het
Tmem150a	C	A	6: 72,335,606 (GRCm39)	L125I	unknown	Het
Try4	T	C	6: 41,279,229 (GRCm39)	L4P	possibly damaging	Het
Txlna	C	T	4: 129,525,950 (GRCm39)	R299H	probably damaging	Het
Txndc16	A	T	14: 45,382,417 (GRCm39)	N609K	probably benign	Het
Upf1	T	C	8: 70,805,508 (GRCm39)	T46A	probably benign	Het
Zfp266	T	C	9: 20,411,626 (GRCm39)	N184D	probably benign	Het
Zfp407	A	G	18: 84,228,047 (GRCm39)	V1854A	possibly damaging	Het
Zfp626	T	A	7: 27,517,795 (GRCm39)	C259S	possibly damaging	Het

Other mutations in Epb42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01535:Epb42	APN	2	120,858,169 (GRCm39)	missense	probably damaging	1.00
IGL01627:Epb42	APN	2	120,856,324 (GRCm39)	missense	probably benign	0.06
IGL02059:Epb42	APN	2	120,855,188 (GRCm39)	missense	probably damaging	0.96
IGL02869:Epb42	APN	2	120,856,227 (GRCm39)	missense	probably benign
R0279:Epb42	UTSW	2	120,859,525 (GRCm39)	splice site	probably benign
R0521:Epb42	UTSW	2	120,859,631 (GRCm39)	nonsense	probably null
R1457:Epb42	UTSW	2	120,860,448 (GRCm39)	critical splice donor site	probably null
R2157:Epb42	UTSW	2	120,852,243 (GRCm39)	missense	probably benign
R2392:Epb42	UTSW	2	120,860,468 (GRCm39)	missense	possibly damaging	0.85
R2407:Epb42	UTSW	2	120,855,233 (GRCm39)	missense	probably damaging	1.00
R2866:Epb42	UTSW	2	120,856,402 (GRCm39)	missense	possibly damaging	0.93
R2993:Epb42	UTSW	2	120,859,525 (GRCm39)	splice site	probably benign
R3426:Epb42	UTSW	2	120,860,520 (GRCm39)	missense	probably damaging	1.00
R3427:Epb42	UTSW	2	120,860,520 (GRCm39)	missense	probably damaging	1.00
R4192:Epb42	UTSW	2	120,860,570 (GRCm39)	splice site	probably null
R4940:Epb42	UTSW	2	120,864,932 (GRCm39)	missense	probably damaging	1.00
R5368:Epb42	UTSW	2	120,849,943 (GRCm39)	missense	probably benign	0.22
R5771:Epb42	UTSW	2	120,852,301 (GRCm39)	missense	probably damaging	0.99
R6048:Epb42	UTSW	2	120,854,889 (GRCm39)	missense	probably benign	0.00
R6362:Epb42	UTSW	2	120,856,260 (GRCm39)	missense	possibly damaging	0.72
R6475:Epb42	UTSW	2	120,857,614 (GRCm39)	missense	possibly damaging	0.53
R6711:Epb42	UTSW	2	120,854,589 (GRCm39)	intron	probably benign
R6843:Epb42	UTSW	2	120,858,166 (GRCm39)	missense	possibly damaging	0.85
R6895:Epb42	UTSW	2	120,867,104 (GRCm39)	start gained	probably benign
R7154:Epb42	UTSW	2	120,863,843 (GRCm39)	missense	probably benign	0.01
R7192:Epb42	UTSW	2	120,854,578 (GRCm39)	missense	unknown
R7600:Epb42	UTSW	2	120,852,307 (GRCm39)	missense	probably damaging	1.00
R7757:Epb42	UTSW	2	120,858,200 (GRCm39)	missense	possibly damaging	0.91
R7779:Epb42	UTSW	2	120,864,916 (GRCm39)	missense	probably benign	0.14
R7781:Epb42	UTSW	2	120,864,916 (GRCm39)	missense	probably benign	0.14
R7782:Epb42	UTSW	2	120,864,916 (GRCm39)	missense	probably benign	0.14
R7784:Epb42	UTSW	2	120,864,916 (GRCm39)	missense	probably benign	0.14
R8737:Epb42	UTSW	2	120,856,324 (GRCm39)	missense	possibly damaging	0.75
R8915:Epb42	UTSW	2	120,849,987 (GRCm39)	missense	possibly damaging	0.92
R8930:Epb42	UTSW	2	120,854,767 (GRCm39)	missense	probably benign	0.00
R8932:Epb42	UTSW	2	120,854,767 (GRCm39)	missense	probably benign	0.00
R9746:Epb42	UTSW	2	120,855,091 (GRCm39)	missense	probably benign	0.00
Z1177:Epb42	UTSW	2	120,858,206 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGGCACTCCAGAATCATAATG -3'
(R):5'- ATTTGTCCCACAACAGCTCTGAG -3'

Sequencing Primer
(F):5'- GGGCACTCCAGAATCATAATGAACAG -3'
(R):5'- CTGAGCATCAAGAGCTGTGACTTC -3'

Posted On

2019-11-26