Mutagenetix > Incidental Mutation

Incidental Mutation 'R7139:Cyb5rl'

553252

Institutional Source

Beutler Lab

Gene Symbol

Cyb5rl

Ensembl Gene

ENSMUSG00000028621

Gene Name

cytochrome b5 reductase-like

Synonyms

2810410C14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R7139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106924035-106945204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 106928208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 115 (I115L)

Ref Sequence

ENSEMBL: ENSMUSP00000030364 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030364] [ENSMUST00000030365] [ENSMUST00000106756] [ENSMUST00000106758] [ENSMUST00000106760] [ENSMUST00000137269] [ENSMUST00000145324] [ENSMUST00000149453] [ENSMUST00000154283]

AlphaFold

B1AS42

Predicted Effect

probably benign
Transcript: ENSMUST00000030364
AA Change: I115L

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030364
Gene: ENSMUSG00000028621
AA Change: I115L

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	15	56	1e-10	PFAM
Pfam:FAD_binding_6	80	156	2.3e-11	PFAM
Pfam:NAD_binding_1	152	266	1.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030365

SMART Domains

Protein: ENSMUSP00000030365
Gene: ENSMUSG00000028622

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
Pfam:PDCD9	292	420	6.4e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106756
AA Change: I55L

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102367
Gene: ENSMUSG00000028621
AA Change: I55L

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_6	20	117	4.7e-23	PFAM
Pfam:NAD_binding_1	127	241	3.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106758
AA Change: I115L

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102369
Gene: ENSMUSG00000028621
AA Change: I115L

Domain	Start	End	E-Value	Type
Pfam:Oxidored-like	10	55	1.7e-15	PFAM
Pfam:FAD_binding_6	80	177	8.2e-25	PFAM
Pfam:NAD_binding_1	187	301	8.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106760
AA Change: I115L

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102371
Gene: ENSMUSG00000028621
AA Change: I115L

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	15	56	2.5e-14	PFAM
Pfam:FAD_binding_6	80	156	3.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126207

SMART Domains

Protein: ENSMUSP00000116114
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
Pfam:Oxidored-like	4	49	1.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137269
AA Change: I48L

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119249
Gene: ENSMUSG00000028621
AA Change: I48L

Domain	Start	End	E-Value	Type
Pfam:FAD_binding_6	13	110	7.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145324

SMART Domains

Protein: ENSMUSP00000122502
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	14	56	3.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149453

SMART Domains

Protein: ENSMUSP00000121581
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	14	56	5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154283

SMART Domains

Protein: ENSMUSP00000119366
Gene: ENSMUSG00000028621

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:Oxidored-like	14	56	4.5e-15	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,026,295 (GRCm39)	R272G	possibly damaging	Het
4930512M02Rik	T	A	11: 11,540,078 (GRCm39)	N179Y	unknown	Het
4930562C15Rik	A	T	16: 4,668,048 (GRCm39)	M480L	probably benign	Het
Abcd4	A	G	12: 84,653,072 (GRCm39)	C377R	probably benign	Het
Adam23	C	A	1: 63,584,736 (GRCm39)	D381E	probably damaging	Het
Angpt1	T	A	15: 42,539,747 (GRCm39)	Q37H	probably damaging	Het
Apeh	A	T	9: 107,969,345 (GRCm39)	F260I	probably damaging	Het
Cadps2	T	C	6: 23,410,888 (GRCm39)	Y681C	probably damaging	Het
Ccdc162	T	C	10: 41,542,717 (GRCm39)	M386V	possibly damaging	Het
Celsr2	T	C	3: 108,322,675 (GRCm39)	S46G	unknown	Het
Cfc1	T	C	1: 34,575,560 (GRCm39)	L78P	probably benign	Het
Chd7	T	C	4: 8,865,865 (GRCm39)	V2724A	probably benign	Het
Clca3a1	A	T	3: 144,461,063 (GRCm39)	V196E	possibly damaging	Het
Cma1	T	C	14: 56,181,273 (GRCm39)	H44R	probably damaging	Het
Cnot2	T	C	10: 116,330,924 (GRCm39)	N394S	probably benign	Het
Cplx3	A	T	9: 57,522,879 (GRCm39)	H160Q	probably benign	Het
Cstf3	A	T	2: 104,483,409 (GRCm39)	I372F	possibly damaging	Het
D5Ertd579e	A	G	5: 36,771,320 (GRCm39)	L1025P	probably damaging	Het
Dmtn	T	C	14: 70,854,867 (GRCm39)	N36S	probably benign	Het
Dnah6	A	G	6: 73,112,663 (GRCm39)	V1647A	probably damaging	Het
Dock6	T	C	9: 21,712,572 (GRCm39)	Y2063C	probably damaging	Het
Dst	T	A	1: 34,338,888 (GRCm39)	D5149E	probably damaging	Het
Fancl	A	G	11: 26,353,358 (GRCm39)	M85V	probably benign	Het
Fgd2	T	A	17: 29,592,229 (GRCm39)	F387Y	probably damaging	Het
Fshr	A	T	17: 89,293,589 (GRCm39)	I363N	possibly damaging	Het
Glce	G	T	9: 61,977,716 (GRCm39)	S56*	probably null	Het
Gm26727	A	T	2: 67,263,381 (GRCm39)	S49T	unknown	Het
Gm36210	T	A	7: 4,902,277 (GRCm39)	D131V	probably damaging	Het
Gm5089	T	C	14: 122,673,403 (GRCm39)	D106G	unknown	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
H2-Eb2	C	T	17: 34,553,395 (GRCm39)	R194W	probably benign	Het
Hivep1	A	T	13: 42,313,430 (GRCm39)	E1890V	probably benign	Het
Ighv1-53	A	T	12: 115,122,441 (GRCm39)	C5*	probably null	Het
Ighv2-5	T	A	12: 113,649,219 (GRCm39)	Y78F	probably benign	Het
Il9	C	T	13: 56,628,426 (GRCm39)	V88I	probably benign	Het
Kidins220	A	G	12: 25,044,820 (GRCm39)	T163A	probably damaging	Het
Lama4	G	T	10: 38,951,491 (GRCm39)	D1079Y	probably damaging	Het
Lrrc34	T	C	3: 30,679,036 (GRCm39)	I354V	probably benign	Het
Macroh2a2	T	A	10: 61,593,674 (GRCm39)	M1L	unknown	Het
Mpeg1	A	T	19: 12,439,078 (GRCm39)	T179S	probably benign	Het
Mrgpra2a	A	T	7: 47,076,337 (GRCm39)	L307H	probably damaging	Het
Mst1	G	A	9: 107,960,027 (GRCm39)	R328H	probably damaging	Het
Muc21	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,933,525 (GRCm39)		probably benign	Het
Nav3	C	A	10: 109,689,338 (GRCm39)	S313I	probably benign	Het
Nmt2	T	G	2: 3,285,352 (GRCm39)	S7A	probably benign	Het
Nsmce1	T	C	7: 125,068,254 (GRCm39)	S197G	probably benign	Het
Ociad2	A	G	5: 73,493,218 (GRCm39)	V4A	probably benign	Het
Or56a41	G	T	7: 104,742,005 (GRCm39)	T7K	probably benign	Het
Osmr	T	C	15: 6,850,569 (GRCm39)	D679G	possibly damaging	Het
Pappa	T	A	4: 65,107,687 (GRCm39)	F699L	probably benign	Het
Parp8	T	A	13: 117,161,802 (GRCm39)	M40L	probably benign	Het
Pcyox1	A	T	6: 86,371,519 (GRCm39)	N122K	possibly damaging	Het
Pkd1l1	T	C	11: 8,840,737 (GRCm39)	S1224G		Het
Pkd1l3	T	A	8: 110,362,972 (GRCm39)	S1088T	probably damaging	Het
Prrt1	T	C	17: 34,850,051 (GRCm39)	V155A	probably benign	Het
Rbm6	A	C	9: 107,730,410 (GRCm39)	D79E	probably damaging	Het
Sec31b	A	T	19: 44,507,375 (GRCm39)	S819T	probably benign	Het
Slc22a27	A	T	19: 7,903,912 (GRCm39)	I75N	probably damaging	Het
Slc25a54	G	A	3: 109,005,905 (GRCm39)	G138R	probably damaging	Het
Slc6a12	T	C	6: 121,342,278 (GRCm39)	S612P	probably benign	Het
Slc7a2	A	T	8: 41,368,050 (GRCm39)	I605F	probably benign	Het
Slit2	A	G	5: 48,402,025 (GRCm39)	T805A	probably benign	Het
Strbp	A	T	2: 37,514,514 (GRCm39)	H308Q	probably benign	Het
Stxbp4	G	A	11: 90,497,835 (GRCm39)	Q155*	probably null	Het
Sybu	A	T	15: 44,541,110 (GRCm39)	N317K	possibly damaging	Het
Taok1	G	A	11: 77,462,459 (GRCm39)	S210F	probably damaging	Het
Tapbp	A	G	17: 34,139,022 (GRCm39)	D72G	possibly damaging	Het
Thbd	G	T	2: 148,248,461 (GRCm39)	T469K	probably benign	Het
Tia1	T	C	6: 86,404,670 (GRCm39)	Y302H	possibly damaging	Het
Tlr4	T	C	4: 66,758,520 (GRCm39)	F438L	probably benign	Het
Tmem235	C	T	11: 117,751,723 (GRCm39)	S49L	probably damaging	Het
Trip4	A	G	9: 65,792,503 (GRCm39)		probably benign	Het
Trrap	C	A	5: 144,739,988 (GRCm39)	L1137I	possibly damaging	Het
Vmo1	T	C	11: 70,404,674 (GRCm39)	E109G	probably benign	Het
Wdfy4	T	C	14: 32,873,535 (GRCm39)	Y258C		Het
Wdr91	T	G	6: 34,885,198 (GRCm39)	N121T	possibly damaging	Het
Zfp39	T	C	11: 58,781,385 (GRCm39)	H459R	probably damaging	Het
Zfp936	T	A	7: 42,839,715 (GRCm39)	I394K	possibly damaging	Het
Zpr1	G	A	9: 46,192,357 (GRCm39)	D423N	probably damaging	Het

Other mutations in Cyb5rl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Cyb5rl	APN	4	106,941,493 (GRCm39)	missense	probably benign	0.21
IGL01350:Cyb5rl	APN	4	106,941,409 (GRCm39)	missense	possibly damaging	0.77
IGL02418:Cyb5rl	APN	4	106,928,182 (GRCm39)	missense	probably damaging	1.00
IGL02746:Cyb5rl	APN	4	106,925,836 (GRCm39)	missense	probably benign	0.12
IGL03088:Cyb5rl	APN	4	106,938,225 (GRCm39)	nonsense	probably null
IGL03279:Cyb5rl	APN	4	106,941,325 (GRCm39)	missense	possibly damaging	0.95
R1301:Cyb5rl	UTSW	4	106,938,104 (GRCm39)	missense	probably damaging	1.00
R1731:Cyb5rl	UTSW	4	106,938,110 (GRCm39)	missense	probably damaging	1.00
R2091:Cyb5rl	UTSW	4	106,928,203 (GRCm39)	missense	probably damaging	1.00
R2165:Cyb5rl	UTSW	4	106,925,880 (GRCm39)	missense	probably damaging	1.00
R2504:Cyb5rl	UTSW	4	106,938,142 (GRCm39)	missense	probably benign	0.01
R4223:Cyb5rl	UTSW	4	106,938,185 (GRCm39)	missense	probably damaging	0.97
R4851:Cyb5rl	UTSW	4	106,941,510 (GRCm39)	missense	probably benign	0.39
R4964:Cyb5rl	UTSW	4	106,926,329 (GRCm39)	intron	probably benign
R5797:Cyb5rl	UTSW	4	106,941,404 (GRCm39)	missense	possibly damaging	0.69
R6575:Cyb5rl	UTSW	4	106,942,550 (GRCm39)	missense	probably benign	0.20
R6688:Cyb5rl	UTSW	4	106,931,102 (GRCm39)	missense	probably damaging	0.99
R6986:Cyb5rl	UTSW	4	106,928,073 (GRCm39)	missense	probably benign	0.18
R7097:Cyb5rl	UTSW	4	106,944,513 (GRCm39)	missense	unknown
R7293:Cyb5rl	UTSW	4	106,938,143 (GRCm39)	missense	probably damaging	0.98
R7920:Cyb5rl	UTSW	4	106,928,205 (GRCm39)	missense	possibly damaging	0.60
R8234:Cyb5rl	UTSW	4	106,925,935 (GRCm39)	missense	probably damaging	1.00
R8333:Cyb5rl	UTSW	4	106,925,875 (GRCm39)	missense	probably benign	0.03
R8367:Cyb5rl	UTSW	4	106,928,146 (GRCm39)	missense	probably benign	0.00
R8546:Cyb5rl	UTSW	4	106,925,923 (GRCm39)	missense	probably damaging	1.00
R8998:Cyb5rl	UTSW	4	106,938,157 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- AGGAGCTAGGAGTGTGTTCC -3'
(R):5'- AGTGTCCTTTCTATCATCAGATGC -3'

Sequencing Primer
(F):5'- TTGGGTCTGACTCTTGAGGTCAAATC -3'
(R):5'- AGAGACAGACTGCTTGCTTTC -3'

Posted On

2019-05-15