Mutagenetix > Incidental Mutation

Incidental Mutation 'R9469:Cobll1'

715328

Institutional Source

Beutler Lab

Gene Symbol

Cobll1

Ensembl Gene

ENSMUSG00000034903

Gene Name

Cobl-like 1

Synonyms

Coblr1, D430044D16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R9469 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64918683-65069742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64966774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 128 (T128I)

Ref Sequence

ENSEMBL: ENSMUSP00000088412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090896] [ENSMUST00000102726] [ENSMUST00000112429] [ENSMUST00000112430] [ENSMUST00000112431] [ENSMUST00000155082] [ENSMUST00000155916] [ENSMUST00000156643]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000090896
AA Change: T128I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088412
Gene: ENSMUSG00000034903
AA Change: T128I

Domain	Start	End	E-Value	Type
low complexity region	147	158	N/A	INTRINSIC
Pfam:Cobl	186	264	1.3e-38	PFAM
low complexity region	332	343	N/A	INTRINSIC
low complexity region	426	438	N/A	INTRINSIC
low complexity region	1023	1034	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102726
AA Change: T128I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099787
Gene: ENSMUSG00000034903
AA Change: T128I

Domain	Start	End	E-Value	Type
low complexity region	147	158	N/A	INTRINSIC
Pfam:Cobl	186	264	5.6e-39	PFAM
low complexity region	332	343	N/A	INTRINSIC
low complexity region	464	476	N/A	INTRINSIC
low complexity region	1060	1071	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112429
AA Change: T128I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108048
Gene: ENSMUSG00000034903
AA Change: T128I

Domain	Start	End	E-Value	Type
Pfam:Cobl	148	239	5.4e-49	PFAM
low complexity region	332	343	N/A	INTRINSIC
low complexity region	464	476	N/A	INTRINSIC
low complexity region	1061	1072	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112430
AA Change: T127I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108049
Gene: ENSMUSG00000034903
AA Change: T127I

Domain	Start	End	E-Value	Type
low complexity region	146	157	N/A	INTRINSIC
Pfam:Cobl	185	263	1.3e-38	PFAM
low complexity region	331	342	N/A	INTRINSIC
low complexity region	425	437	N/A	INTRINSIC
low complexity region	1022	1033	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112431
AA Change: T128I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108050
Gene: ENSMUSG00000034903
AA Change: T128I

Domain	Start	End	E-Value	Type
low complexity region	147	158	N/A	INTRINSIC
Pfam:Cobl	186	264	5.6e-39	PFAM
low complexity region	332	343	N/A	INTRINSIC
low complexity region	464	476	N/A	INTRINSIC
low complexity region	1061	1072	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155082
AA Change: T160I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116196
Gene: ENSMUSG00000034903
AA Change: T160I

Domain	Start	End	E-Value	Type
SCOP:d1ijha1	2	74	3e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155916
AA Change: T148I

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115065
Gene: ENSMUSG00000034903
AA Change: T148I

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
low complexity region	167	178	N/A	INTRINSIC
Pfam:Cobl	206	297	2.4e-37	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156643
AA Change: T105I

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114447
Gene: ENSMUSG00000034903
AA Change: T105I

Domain	Start	End	E-Value	Type
low complexity region	124	135	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	T	17: 57,183,283 (GRCm39)	D8V	probably benign	Het
Ada	T	A	2: 163,574,192 (GRCm39)	M155L	probably benign	Het
Adam23	A	G	1: 63,584,671 (GRCm39)	I360V	probably benign	Het
Ahnak	G	A	19: 8,988,225 (GRCm39)	G3170R	probably damaging	Het
Alb	G	A	5: 90,610,659 (GRCm39)	D80N	probably benign	Het
Amph	G	T	13: 19,270,769 (GRCm39)	G126V	probably damaging	Het
Anks1b	A	T	10: 90,733,205 (GRCm39)	M994L	possibly damaging	Het
Atp8a2	A	G	14: 60,028,668 (GRCm39)	L933P	probably benign	Het
Bcas1	T	C	2: 170,191,292 (GRCm39)	D546G	possibly damaging	Het
Bmpr2	A	C	1: 59,881,928 (GRCm39)	M186L	probably benign	Het
Clca3a2	T	C	3: 144,507,938 (GRCm39)	I711V	probably damaging	Het
Cog4	T	C	8: 111,608,804 (GRCm39)	W165R	unknown	Het
Cyp2j5	G	A	4: 96,517,731 (GRCm39)	R494*	probably null	Het
Dnah2	G	A	11: 69,321,896 (GRCm39)	A3808V	probably damaging	Het
Dnah5	A	T	15: 28,421,146 (GRCm39)	T3828S	probably benign	Het
Dsg1c	T	C	18: 20,400,947 (GRCm39)	I150T	probably damaging	Het
Ehd2	A	T	7: 15,684,332 (GRCm39)	I489N	probably damaging	Het
Fam24a	C	A	7: 130,938,392 (GRCm39)	T94K	probably damaging	Het
Gata2	A	G	6: 88,182,301 (GRCm39)	E423G	possibly damaging	Het
Gm8947	A	G	1: 151,069,063 (GRCm39)	I299V	unknown	Het
Gpr161	A	G	1: 165,133,896 (GRCm39)	I53V	possibly damaging	Het
Guca2b	G	A	4: 119,515,817 (GRCm39)	Q15*	probably null	Het
Hus1	A	G	11: 8,948,744 (GRCm39)	V219A	probably benign	Het
Il5	T	C	11: 53,614,824 (GRCm39)	W129R	probably damaging	Het
Ipmk	A	G	10: 71,201,843 (GRCm39)	Y77C	probably damaging	Het
Kcnip3	A	G	2: 127,307,322 (GRCm39)	L136P	probably benign	Het
Klhl2	G	A	8: 65,196,069 (GRCm39)	A558V	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lig3	G	A	11: 82,686,199 (GRCm39)	C613Y	probably benign	Het
Lrriq1	A	G	10: 103,050,761 (GRCm39)	S664P	probably benign	Het
Megf6	A	G	4: 154,335,369 (GRCm39)	Y276C	probably damaging	Het
Mlph	A	G	1: 90,856,068 (GRCm39)	E119G	probably damaging	Het
Mrpl39	T	G	16: 84,517,170 (GRCm39)	R316S	probably damaging	Het
Myo18b	T	C	5: 112,994,247 (GRCm39)	D902G	probably benign	Het
Myocd	A	G	11: 65,087,220 (GRCm39)	S236P	probably benign	Het
Myom1	G	T	17: 71,368,122 (GRCm39)	A482S	possibly damaging	Het
Nol4	A	G	18: 23,085,318 (GRCm39)	V32A	probably damaging	Het
Nrp2	T	C	1: 62,804,030 (GRCm39)	Y555H	probably damaging	Het
Or12d12	T	C	17: 37,610,956 (GRCm39)	D119G	probably damaging	Het
Or4d10c	G	A	19: 12,065,434 (GRCm39)	H241Y	probably benign	Het
Or52l1	A	T	7: 104,829,967 (GRCm39)	H199Q	probably damaging	Het
Or8k27	C	A	2: 86,275,787 (GRCm39)	D180Y	probably damaging	Het
Papss1	A	G	3: 131,288,959 (GRCm39)	K175E	possibly damaging	Het
Pdcd5	T	C	7: 35,343,827 (GRCm39)	M39V	probably benign	Het
Plcl2	G	A	17: 50,913,953 (GRCm39)	D321N	probably benign	Het
Plxna4	G	A	6: 32,494,526 (GRCm39)	P30L	probably benign	Het
Pou2f1	G	A	1: 165,740,830 (GRCm39)	T113I	probably benign	Het
Ptpn2	T	A	18: 67,808,907 (GRCm39)	H303L	probably benign	Het
R3hdm1	T	A	1: 128,106,921 (GRCm39)		probably null	Het
Rdx	T	C	9: 51,977,069 (GRCm39)	V106A	probably damaging	Het
Ripk2	T	C	4: 16,138,181 (GRCm39)	D249G	possibly damaging	Het
Rnf169	A	T	7: 99,575,567 (GRCm39)	S343T	possibly damaging	Het
Rnf40	T	A	7: 127,195,769 (GRCm39)	L671Q	probably damaging	Het
Scube3	C	A	17: 28,386,138 (GRCm39)	S793*	probably null	Het
Sipa1l3	A	T	7: 29,028,481 (GRCm39)	M1633K	possibly damaging	Het
Slc16a14	A	T	1: 84,900,612 (GRCm39)	N124K	probably benign	Het
Smarcd2	G	A	11: 106,163,332 (GRCm39)	A68V	probably benign	Het
Smg1	T	C	7: 117,739,774 (GRCm39)	E3391G	possibly damaging	Het
Spata32	T	C	11: 103,099,741 (GRCm39)	M255V	possibly damaging	Het
Sstr5	T	A	17: 25,710,941 (GRCm39)	Q96L	probably damaging	Het
Tcaf3	A	G	6: 42,573,828 (GRCm39)	I128T	probably benign	Het
Tfdp1	C	T	8: 13,422,965 (GRCm39)	T290M	probably benign	Het
Ticrr	C	T	7: 79,344,511 (GRCm39)	H1459Y	probably benign	Het
Tmed4	T	A	11: 6,223,763 (GRCm39)	Q171L	probably benign	Het
Tmem40	G	A	6: 115,719,321 (GRCm39)	S48F	possibly damaging	Het
Tnfaip1	A	G	11: 78,419,075 (GRCm39)		probably null	Het
Top1mt	A	G	15: 75,539,742 (GRCm39)	Y290H	probably damaging	Het
Topaz1	A	T	9: 122,577,585 (GRCm39)	D165V	probably damaging	Het
Trim44	T	C	2: 102,230,651 (GRCm39)	S127G	unknown	Het
Ubac1	G	A	2: 25,897,763 (GRCm39)	R286C	probably damaging	Het
Ube2u	A	G	4: 100,406,958 (GRCm39)	E273G	possibly damaging	Het
Vmn1r213	G	A	13: 23,196,101 (GRCm39)	S228N	probably benign	Het
Vmn2r28	A	T	7: 5,487,118 (GRCm39)	V515E	probably damaging	Het
Vps13d	A	G	4: 144,780,691 (GRCm39)	L4011P		Het
Ythdc2	T	C	18: 45,019,383 (GRCm39)	F1384S	probably damaging	Het
Zfp423	T	A	8: 88,509,519 (GRCm39)	Y275F	probably damaging	Het
Zfp493	A	G	13: 67,934,325 (GRCm39)	K93E	probably benign	Het
Zfp980	G	T	4: 145,427,687 (GRCm39)	G139W	probably benign	Het

Other mutations in Cobll1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00789:Cobll1	APN	2	64,956,357 (GRCm39)	missense	probably damaging	1.00
IGL01074:Cobll1	APN	2	64,938,192 (GRCm39)	missense	probably damaging	1.00
IGL01093:Cobll1	APN	2	64,928,581 (GRCm39)	missense	probably damaging	1.00
IGL02411:Cobll1	APN	2	64,928,084 (GRCm39)	missense	probably damaging	1.00
IGL02419:Cobll1	APN	2	64,981,392 (GRCm39)	missense	probably damaging	1.00
IGL02550:Cobll1	APN	2	64,938,207 (GRCm39)	missense	probably damaging	1.00
IGL02607:Cobll1	APN	2	64,981,429 (GRCm39)	missense	probably damaging	0.98
IGL02829:Cobll1	APN	2	64,956,389 (GRCm39)	missense	probably damaging	1.00
IGL02802:Cobll1	UTSW	2	64,928,663 (GRCm39)	missense	probably damaging	0.99
R0313:Cobll1	UTSW	2	64,926,088 (GRCm39)	nonsense	probably null
R0314:Cobll1	UTSW	2	64,919,865 (GRCm39)	missense	possibly damaging	0.81
R0322:Cobll1	UTSW	2	64,932,442 (GRCm39)	missense	possibly damaging	0.84
R0846:Cobll1	UTSW	2	64,932,409 (GRCm39)	splice site	probably null
R1163:Cobll1	UTSW	2	64,928,623 (GRCm39)	missense	probably damaging	0.96
R1242:Cobll1	UTSW	2	64,981,513 (GRCm39)	critical splice acceptor site	probably null
R1364:Cobll1	UTSW	2	64,956,654 (GRCm39)	splice site	probably benign
R1445:Cobll1	UTSW	2	64,929,480 (GRCm39)	missense	probably damaging	1.00
R1610:Cobll1	UTSW	2	64,963,986 (GRCm39)	missense	probably damaging	1.00
R1836:Cobll1	UTSW	2	64,956,580 (GRCm39)	missense	probably damaging	1.00
R2102:Cobll1	UTSW	2	64,928,554 (GRCm39)	missense	probably damaging	1.00
R3154:Cobll1	UTSW	2	64,937,394 (GRCm39)	missense	probably benign	0.00
R4580:Cobll1	UTSW	2	64,981,417 (GRCm39)	missense	probably benign	0.00
R4638:Cobll1	UTSW	2	64,929,581 (GRCm39)	missense	probably benign	0.03
R4684:Cobll1	UTSW	2	64,929,372 (GRCm39)	missense	possibly damaging	0.90
R4906:Cobll1	UTSW	2	64,928,037 (GRCm39)	missense	probably benign	0.01
R4923:Cobll1	UTSW	2	64,929,602 (GRCm39)	missense	possibly damaging	0.87
R5100:Cobll1	UTSW	2	64,956,245 (GRCm39)	missense	probably benign	0.26
R5269:Cobll1	UTSW	2	64,964,115 (GRCm39)	nonsense	probably null
R5419:Cobll1	UTSW	2	64,933,701 (GRCm39)	missense	possibly damaging	0.57
R5637:Cobll1	UTSW	2	64,956,247 (GRCm39)	missense	possibly damaging	0.90
R5745:Cobll1	UTSW	2	64,928,801 (GRCm39)	missense	probably damaging	0.99
R5777:Cobll1	UTSW	2	64,933,612 (GRCm39)	missense	probably benign	0.27
R6303:Cobll1	UTSW	2	64,928,377 (GRCm39)	missense	possibly damaging	0.68
R6471:Cobll1	UTSW	2	64,938,228 (GRCm39)	missense	probably damaging	1.00
R7027:Cobll1	UTSW	2	64,919,847 (GRCm39)	missense	probably benign	0.00
R7132:Cobll1	UTSW	2	64,964,112 (GRCm39)	missense	probably damaging	1.00
R7197:Cobll1	UTSW	2	64,928,882 (GRCm39)	missense	probably benign	0.00
R7365:Cobll1	UTSW	2	64,928,717 (GRCm39)	missense	probably damaging	0.99
R7607:Cobll1	UTSW	2	64,926,201 (GRCm39)	missense	probably benign	0.02
R7899:Cobll1	UTSW	2	64,956,275 (GRCm39)	missense	probably damaging	1.00
R7996:Cobll1	UTSW	2	64,981,329 (GRCm39)	missense	possibly damaging	0.93
R8175:Cobll1	UTSW	2	64,929,575 (GRCm39)	missense	probably benign
R8212:Cobll1	UTSW	2	64,932,424 (GRCm39)	missense	probably benign	0.08
R8549:Cobll1	UTSW	2	64,928,794 (GRCm39)	missense	probably damaging	1.00
R8832:Cobll1	UTSW	2	64,929,602 (GRCm39)	missense	probably damaging	1.00
R9189:Cobll1	UTSW	2	64,981,333 (GRCm39)	missense	probably damaging	1.00
R9253:Cobll1	UTSW	2	64,981,503 (GRCm39)	missense	probably benign	0.10
R9273:Cobll1	UTSW	2	64,929,356 (GRCm39)	missense	probably damaging	1.00
R9309:Cobll1	UTSW	2	64,956,271 (GRCm39)	missense	probably damaging	0.96
R9332:Cobll1	UTSW	2	64,933,516 (GRCm39)	missense	probably benign
X0020:Cobll1	UTSW	2	64,933,666 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAGTTGATGACAAACCAAGTG -3'
(R):5'- AGTTTCACAGTCTGTTGAGTTGATC -3'

Sequencing Primer
(F):5'- ATTGTTCCATGTATCCAGACCAG -3'
(R):5'- GTCTGTTGAGTTGATCTCTTAAAACC -3'

Posted On

2022-06-15