Mutagenetix > Incidental Mutation

Incidental Mutation 'R7548:Epb41l3'

584349

Institutional Source

Beutler Lab

Gene Symbol

Epb41l3

Ensembl Gene

ENSMUSG00000024044

Gene Name

erythrocyte membrane protein band 4.1 like 3

Synonyms

4.1B, NBL3, Epb4.1l3, DAL1P

MMRRC Submission

045619-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7548 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69382678-69596984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69517271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 100 (S100P)

Ref Sequence

ENSEMBL: ENSMUSP00000079098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080208] [ENSMUST00000112680] [ENSMUST00000223610] [ENSMUST00000225062] [ENSMUST00000225740] [ENSMUST00000225977]

AlphaFold

Q9WV92

Predicted Effect

probably damaging
Transcript: ENSMUST00000080208
AA Change: S100P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000079098
Gene: ENSMUSG00000024044
AA Change: S100P

Domain	Start	End	E-Value	Type
low complexity region	15	40	N/A	INTRINSIC
low complexity region	94	107	N/A	INTRINSIC
B41	114	309	1.13e-80	SMART
FERM_C	313	403	3.96e-38	SMART
FA	405	451	2.34e-17	SMART
low complexity region	497	517	N/A	INTRINSIC
Pfam:SAB	556	604	2.1e-29	PFAM
low complexity region	789	802	N/A	INTRINSIC
Pfam:4_1_CTD	809	922	1.9e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112680
AA Change: S100P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108300
Gene: ENSMUSG00000024044
AA Change: S100P

Domain	Start	End	E-Value	Type
low complexity region	15	40	N/A	INTRINSIC
low complexity region	94	107	N/A	INTRINSIC
B41	114	309	1.13e-80	SMART
FERM_C	313	403	3.96e-38	SMART
FA	405	451	2.34e-17	SMART
low complexity region	497	517	N/A	INTRINSIC
Pfam:SAB	566	614	3.2e-28	PFAM
low complexity region	799	812	N/A	INTRINSIC
Pfam:4_1_CTD	825	931	2.9e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223610

Predicted Effect

probably benign
Transcript: ENSMUST00000225062

Predicted Effect

probably damaging
Transcript: ENSMUST00000225740
AA Change: S100P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225977
AA Change: S100P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (71/71)

MGI Phenotype

PHENOTYPE: Mice homozygous for one knock-out allele display a normal phenotype. Mice homozygous for a different knock-out allele exhibit ataxia, gait abnormalities, clasping, hypermyelination, abnormal axon morphology, and decreased internode length. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	G	A	5: 115,016,059 (GRCm39)	S146N	possibly damaging	Het
Acr	T	C	15: 89,458,596 (GRCm39)	S426P	possibly damaging	Het
Arl6ip1	A	T	7: 117,725,733 (GRCm39)	I59N	probably damaging	Het
Atp2b4	A	T	1: 133,629,379 (GRCm39)	*81K	probably null	Het
Atp8a1	T	A	5: 67,973,071 (GRCm39)	R26*	probably null	Het
Atp8b4	T	A	2: 126,231,262 (GRCm39)	Q453L	probably benign	Het
B4galt4	A	G	16: 38,574,428 (GRCm39)	E134G	probably damaging	Het
Bcl9	G	A	3: 97,113,209 (GRCm39)	T1082I	probably damaging	Het
Catsperg2	A	G	7: 29,409,251 (GRCm39)	F617L	probably benign	Het
Ccdc15	T	C	9: 37,188,723 (GRCm39)	N800S	probably benign	Het
Cd300ld	T	C	11: 114,878,248 (GRCm39)	D88G	probably benign	Het
Ceacam2	A	T	7: 25,229,958 (GRCm39)	V216E	probably benign	Het
Cecr2	T	A	6: 120,738,675 (GRCm39)	M356K		Het
Cenpm	T	C	15: 82,128,880 (GRCm39)	M1V	probably null	Het
Ces2e	A	G	8: 105,658,538 (GRCm39)	E401G	probably benign	Het
Cib3	C	A	8: 72,961,041 (GRCm39)	L65F	probably damaging	Het
Clip4	C	G	17: 72,096,963 (GRCm39)	T29R	probably benign	Het
Cnot7	A	G	8: 40,953,874 (GRCm39)	I131T	probably damaging	Het
Cntn5	A	T	9: 9,673,415 (GRCm39)		probably null	Het
Col11a1	A	C	3: 113,917,409 (GRCm39)	H732P	unknown	Het
Coq4	A	T	2: 29,685,420 (GRCm39)	T145S	possibly damaging	Het
Cwf19l1	T	C	19: 44,098,989 (GRCm39)	D527G	probably benign	Het
Cyp3a25	T	C	5: 145,923,735 (GRCm39)	I303V	probably damaging	Het
Dab2	C	T	15: 6,459,399 (GRCm39)	T437I	possibly damaging	Het
Dlc1	A	G	8: 37,051,809 (GRCm39)	S190P	probably benign	Het
Dnah6	G	A	6: 73,004,423 (GRCm39)	L3847F	probably damaging	Het
Dnmbp	T	C	19: 43,877,838 (GRCm39)	E411G	probably benign	Het
Dpp8	T	C	9: 64,944,517 (GRCm39)	Y95H	probably damaging	Het
Emb	T	A	13: 117,408,590 (GRCm39)	D310E	possibly damaging	Het
Eml4	C	A	17: 83,732,766 (GRCm39)	Q140K	probably benign	Het
Fat4	A	T	3: 39,035,263 (GRCm39)	T2972S	probably benign	Het
Fignl2	T	C	15: 100,951,079 (GRCm39)	E401G	unknown	Het
Fryl	T	A	5: 73,349,105 (GRCm39)	D19V	unknown	Het
Gck	C	T	11: 5,852,040 (GRCm39)	G16R		Het
Gm3371	T	C	14: 44,648,145 (GRCm39)	M1V	probably null	Het
Hlcs	T	A	16: 93,933,876 (GRCm39)	K661*	probably null	Het
Il17re	C	G	6: 113,443,348 (GRCm39)	P363A	probably damaging	Het
Kif24	C	T	4: 41,423,601 (GRCm39)	E217K	possibly damaging	Het
Klhdc7b	T	C	15: 89,272,907 (GRCm39)	I605T	probably damaging	Het
Krt31	T	C	11: 99,940,346 (GRCm39)	T170A	probably damaging	Het
Lgals3bp	T	C	11: 118,287,669 (GRCm39)	D126G	probably benign	Het
Lig1	T	A	7: 13,035,344 (GRCm39)	F601Y	possibly damaging	Het
Lrp6	A	G	6: 134,484,471 (GRCm39)	I384T	probably damaging	Het
Mfap5	A	T	6: 122,502,993 (GRCm39)	T102S	probably benign	Het
Mfsd6	A	G	1: 52,702,446 (GRCm39)	F600S	possibly damaging	Het
Nlrp4a	G	A	7: 26,149,604 (GRCm39)	E404K	probably damaging	Het
Nme3	T	C	17: 25,115,522 (GRCm39)	L12P	probably damaging	Het
Nxpe5	A	T	5: 138,249,493 (GRCm39)	T428S	probably benign	Het
Or1e26	G	A	11: 73,479,802 (GRCm39)	T254I	possibly damaging	Het
Or4c122	T	C	2: 89,079,430 (GRCm39)	T191A	probably benign	Het
Prr5	C	A	15: 84,641,259 (GRCm39)	P175Q	possibly damaging	Het
Psmc6	T	C	14: 45,572,375 (GRCm39)	Y110H	probably benign	Het
Pthlh	T	A	6: 147,158,653 (GRCm39)	R102S	possibly damaging	Het
Ric8b	G	T	10: 84,783,736 (GRCm39)	S198I	probably damaging	Het
Rrp7a	C	A	15: 83,001,871 (GRCm39)	R212S	possibly damaging	Het
Rubcnl	T	C	14: 75,279,792 (GRCm39)	Y392H	probably benign	Het
Sag	G	A	1: 87,772,638 (GRCm39)	V369I	probably benign	Het
Sar1b	A	G	11: 51,680,094 (GRCm39)	E140G	probably benign	Het
Sema3d	T	A	5: 12,627,783 (GRCm39)	M658K	unknown	Het
Skor2	C	T	18: 76,948,600 (GRCm39)	S774F	possibly damaging	Het
Slc1a6	G	T	10: 78,650,265 (GRCm39)	R501L	probably damaging	Het
Spata31d1b	A	G	13: 59,864,468 (GRCm39)	M539V	probably benign	Het
Spocd1	T	C	4: 129,823,602 (GRCm39)	L133P		Het
Sptlc1	A	T	13: 53,521,968 (GRCm39)	N96K	possibly damaging	Het
Stox1	A	T	10: 62,501,946 (GRCm39)	S205T	probably damaging	Het
Tec	T	C	5: 72,917,693 (GRCm39)	M509V	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Ttc34	T	A	4: 154,940,816 (GRCm39)	L499Q	probably damaging	Het
Uqcc1	A	G	2: 155,751,309 (GRCm39)	C120R	probably damaging	Het
Usp39	C	T	6: 72,321,996 (GRCm39)	S46N	possibly damaging	Het
Zbtb5	T	C	4: 44,994,724 (GRCm39)	E220G	probably benign	Het
Zfp287	A	T	11: 62,604,701 (GRCm39)	C735*	probably null	Het

Other mutations in Epb41l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Epb41l3	APN	17	69,514,856 (GRCm39)	splice site	probably benign
IGL01099:Epb41l3	APN	17	69,517,188 (GRCm39)	missense	possibly damaging	0.80
IGL01578:Epb41l3	APN	17	69,555,704 (GRCm39)	missense	probably damaging	1.00
IGL02269:Epb41l3	APN	17	69,554,568 (GRCm39)	missense	probably damaging	1.00
IGL02926:Epb41l3	APN	17	69,554,741 (GRCm39)	missense	probably damaging	1.00
IGL03397:Epb41l3	APN	17	69,555,687 (GRCm39)	missense	probably damaging	1.00
E0370:Epb41l3	UTSW	17	69,581,799 (GRCm39)	missense	possibly damaging	0.73
P0031:Epb41l3	UTSW	17	69,566,049 (GRCm39)	nonsense	probably null
R0032:Epb41l3	UTSW	17	69,517,379 (GRCm39)	critical splice donor site	probably null
R0056:Epb41l3	UTSW	17	69,560,392 (GRCm39)	missense	probably damaging	1.00
R0092:Epb41l3	UTSW	17	69,593,745 (GRCm39)	missense	probably damaging	1.00
R0499:Epb41l3	UTSW	17	69,554,654 (GRCm39)	missense	probably benign	0.00
R0560:Epb41l3	UTSW	17	69,581,892 (GRCm39)	critical splice donor site	probably null
R1164:Epb41l3	UTSW	17	69,581,762 (GRCm39)	missense	possibly damaging	0.93
R1170:Epb41l3	UTSW	17	69,566,175 (GRCm39)	nonsense	probably null
R1397:Epb41l3	UTSW	17	69,569,343 (GRCm39)	critical splice donor site	probably null
R2080:Epb41l3	UTSW	17	69,560,463 (GRCm39)	missense	possibly damaging	0.54
R2138:Epb41l3	UTSW	17	69,514,875 (GRCm39)	missense	probably damaging	1.00
R2279:Epb41l3	UTSW	17	69,577,645 (GRCm39)	missense	possibly damaging	0.56
R2863:Epb41l3	UTSW	17	69,517,316 (GRCm39)	missense	probably benign	0.22
R3883:Epb41l3	UTSW	17	69,581,111 (GRCm39)	nonsense	probably null
R3884:Epb41l3	UTSW	17	69,581,111 (GRCm39)	nonsense	probably null
R4165:Epb41l3	UTSW	17	69,514,883 (GRCm39)	missense	probably damaging	1.00
R4795:Epb41l3	UTSW	17	69,555,714 (GRCm39)	critical splice donor site	probably null
R5286:Epb41l3	UTSW	17	69,569,268 (GRCm39)	missense	probably benign	0.00
R5303:Epb41l3	UTSW	17	69,564,444 (GRCm39)	missense	probably damaging	1.00
R5373:Epb41l3	UTSW	17	69,593,795 (GRCm39)	missense	probably damaging	1.00
R5374:Epb41l3	UTSW	17	69,593,795 (GRCm39)	missense	probably damaging	1.00
R5938:Epb41l3	UTSW	17	69,566,066 (GRCm39)	missense	probably damaging	1.00
R6014:Epb41l3	UTSW	17	69,590,955 (GRCm39)	missense	probably damaging	0.98
R6059:Epb41l3	UTSW	17	69,593,793 (GRCm39)	missense	probably damaging	1.00
R6059:Epb41l3	UTSW	17	69,591,637 (GRCm39)	missense	probably damaging	1.00
R7318:Epb41l3	UTSW	17	69,573,135 (GRCm39)	missense
R7480:Epb41l3	UTSW	17	69,568,867 (GRCm39)	splice site	probably null
R7719:Epb41l3	UTSW	17	69,560,409 (GRCm39)	missense	possibly damaging	0.81
R7769:Epb41l3	UTSW	17	69,545,421 (GRCm39)	missense	probably damaging	0.98
R7903:Epb41l3	UTSW	17	69,581,332 (GRCm39)	splice site	probably null
R8099:Epb41l3	UTSW	17	69,554,683 (GRCm39)	missense	possibly damaging	0.79
R8175:Epb41l3	UTSW	17	69,517,361 (GRCm39)	missense	probably damaging	1.00
R8225:Epb41l3	UTSW	17	69,581,796 (GRCm39)	missense	possibly damaging	0.52
R8364:Epb41l3	UTSW	17	69,573,429 (GRCm39)	critical splice donor site	probably null
R8540:Epb41l3	UTSW	17	69,593,757 (GRCm39)	missense	probably damaging	1.00
R8859:Epb41l3	UTSW	17	69,591,575 (GRCm39)	missense	probably benign	0.28
R8984:Epb41l3	UTSW	17	69,554,641 (GRCm39)	missense	probably damaging	1.00
R9048:Epb41l3	UTSW	17	69,517,218 (GRCm39)	missense	probably benign	0.06
X0066:Epb41l3	UTSW	17	69,566,153 (GRCm39)	nonsense	probably null
Z1088:Epb41l3	UTSW	17	69,560,517 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTCTGAAGCTACACGCC -3'
(R):5'- CCATCAGAGCTGAACAATTCCG -3'

Sequencing Primer
(F):5'- CGCCACCGTCTGAGCAG -3'
(R):5'- CAGAGCTGAACAATTCCGTCTTTTG -3'

Posted On

2019-10-17