Mutagenetix > Incidental Mutation

Incidental Mutation 'R1468:Mucl2'

197763

Institutional Source

Beutler Lab

Gene Symbol

Mucl2

Ensembl Gene

ENSMUSG00000036925

Gene Name

mucin-like 2

Synonyms

Spt-1, Spt1

MMRRC Submission

039521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R1468 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103895855-103899312 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103897407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 95 (T95A)

Ref Sequence

ENSEMBL: ENSMUSP00000154772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037685] [ENSMUST00000226584]

AlphaFold

P02815

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037685
AA Change: T95A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044814
Gene: ENSMUSG00000036925
AA Change: T95A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	54	67	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226584
AA Change: T95A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.1850

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

98% (106/108)

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	G	7: 12,512,580 (GRCm38)	M1R	probably null	Het
4933440N22Rik	C	A	6: 117,907,579 (GRCm38)		probably benign	Het
5031439G07Rik	G	T	15: 84,953,144 (GRCm38)	P280T	probably damaging	Het
Abca2	C	T	2: 25,441,296 (GRCm38)	S1267L	probably damaging	Het
Acsl3	A	T	1: 78,706,409 (GRCm38)	R719S	probably benign	Het
Adam1a	A	T	5: 121,519,776 (GRCm38)		probably null	Het
Adamts7	T	C	9: 90,188,798 (GRCm38)		probably benign	Het
Adgrf3	G	A	5: 30,202,229 (GRCm38)		probably benign	Het
Aldh6a1	T	C	12: 84,441,770 (GRCm38)	E89G	possibly damaging	Het
Ankrd36	A	G	11: 5,575,752 (GRCm38)	Y238C	probably damaging	Het
Ankrd65	G	A	4: 155,792,905 (GRCm38)	R291Q	probably benign	Het
Ano2	C	T	6: 125,796,264 (GRCm38)	R287W	probably damaging	Het
Ap1ar	A	G	3: 127,812,566 (GRCm38)	I125T	probably benign	Het
Arid1b	A	G	17: 5,242,922 (GRCm38)	D705G	probably damaging	Het
Asb18	T	A	1: 89,996,283 (GRCm38)	N86I	probably damaging	Het
Bicral	A	T	17: 46,824,593 (GRCm38)	S564T	probably benign	Het
Bpifa6	A	G	2: 153,989,272 (GRCm38)	M253V	probably benign	Het
Braf	T	C	6: 39,665,083 (GRCm38)	D194G	probably damaging	Het
Brinp3	C	A	1: 146,901,962 (GRCm38)	P716T	probably benign	Het
C7	T	A	15: 5,012,149 (GRCm38)	Y425F	probably damaging	Het
Ccdc102a	T	C	8: 94,906,086 (GRCm38)	K421R	probably benign	Het
Cep89	G	A	7: 35,420,963 (GRCm38)		probably null	Het
Chgb	A	T	2: 132,792,800 (GRCm38)	M221L	probably benign	Het
Chst14	A	G	2: 118,927,664 (GRCm38)	Y313C	probably damaging	Het
Ciita	G	A	16: 10,513,288 (GRCm38)		probably null	Het
Clec12b	A	T	6: 129,380,640 (GRCm38)	I85N	probably damaging	Het
Clec2e	G	T	6: 129,093,496 (GRCm38)	Y187*	probably null	Het
Crbn	T	C	6: 106,790,843 (GRCm38)	K229E	probably benign	Het
Ctdspl2	A	T	2: 121,981,281 (GRCm38)	Q201L	probably benign	Het
Ctrb1	G	T	8: 111,689,409 (GRCm38)		probably benign	Het
Cyp2c55	T	A	19: 39,011,081 (GRCm38)	V77E	probably damaging	Het
Cyp2c69	A	C	19: 39,849,395 (GRCm38)	D414E	probably damaging	Het
Ddx47	T	C	6: 135,011,740 (GRCm38)		probably benign	Het
Dlg1	A	G	16: 31,842,822 (GRCm38)		probably null	Het
Dnah5	C	A	15: 28,230,463 (GRCm38)	S169*	probably null	Het
Dock4	C	A	12: 40,755,810 (GRCm38)	T927K	probably benign	Het
Esrp2	T	G	8: 106,133,821 (GRCm38)	D259A	probably damaging	Het
Fam169a	A	G	13: 97,118,530 (GRCm38)	K418R	probably benign	Het
Fam207a	A	G	10: 77,497,526 (GRCm38)		probably benign	Het
Fancm	A	T	12: 65,099,293 (GRCm38)	I597F	probably damaging	Het
Fastkd2	G	T	1: 63,732,226 (GRCm38)		probably benign	Het
Fat1	G	A	8: 45,010,545 (GRCm38)	V1375M	probably damaging	Het
Fbxw10	A	T	11: 62,862,638 (GRCm38)	D486V	probably damaging	Het
Fech	C	T	18: 64,470,673 (GRCm38)		probably benign	Het
Fermt1	C	T	2: 132,925,022 (GRCm38)	E342K	probably benign	Het
Foxp1	T	A	6: 98,978,220 (GRCm38)	H195L	possibly damaging	Het
Gfra1	T	A	19: 58,451,975 (GRCm38)	I138L	probably benign	Het
Gm12185	T	C	11: 48,915,674 (GRCm38)	D230G	possibly damaging	Het
Gm14403	T	A	2: 177,507,231 (GRCm38)		probably benign	Het
Gpd2	A	C	2: 57,355,774 (GRCm38)	T439P	probably damaging	Het
Gpm6a	A	T	8: 55,037,350 (GRCm38)	K20N	probably damaging	Het
Hc	A	T	2: 34,983,807 (GRCm38)	Y158*	probably null	Het
Hectd4	A	T	5: 121,349,172 (GRCm38)	D3410V	possibly damaging	Het
Il17b	G	A	18: 61,690,412 (GRCm38)		probably null	Het
Irx4	G	T	13: 73,265,576 (GRCm38)	R55L	possibly damaging	Het
Itgav	A	T	2: 83,765,901 (GRCm38)		probably benign	Het
Lama3	T	C	18: 12,441,107 (GRCm38)	V582A	probably benign	Het
Ldhd	G	T	8: 111,627,293 (GRCm38)	A425E	possibly damaging	Het
Lrp1b	C	T	2: 40,927,829 (GRCm38)		probably null	Het
Lrp5	T	C	19: 3,620,191 (GRCm38)	T638A	possibly damaging	Het
Lrrk1	A	C	7: 66,259,974 (GRCm38)	F1996C	probably damaging	Het
Ly6h	G	A	15: 75,566,137 (GRCm38)	S21L	probably benign	Het
Mctp1	T	C	13: 76,825,273 (GRCm38)	V431A	probably benign	Het
Metap2	C	T	10: 93,871,483 (GRCm38)		probably null	Het
Mfsd2b	T	A	12: 4,870,536 (GRCm38)	K94*	probably null	Het
Micall2	A	G	5: 139,719,342 (GRCm38)	L79P	probably damaging	Het
Myo15	A	T	11: 60,506,006 (GRCm38)	T2634S	probably damaging	Het
Myo5b	G	T	18: 74,740,503 (GRCm38)	V1467L	probably damaging	Het
Nfic	G	T	10: 81,420,580 (GRCm38)	D105E	probably damaging	Het
Nrd1	T	A	4: 109,016,668 (GRCm38)	F227Y	probably benign	Het
Nrp2	A	T	1: 62,738,299 (GRCm38)	I88F	probably damaging	Het
Nup160	A	T	2: 90,700,543 (GRCm38)	H515L	probably benign	Het
Nup205	G	A	6: 35,225,982 (GRCm38)		probably null	Het
Oas1g	G	A	5: 120,882,006 (GRCm38)	T179I	probably benign	Het
Ogfr	A	T	2: 180,594,750 (GRCm38)	E376V	probably damaging	Het
Olfr1212	T	G	2: 88,959,043 (GRCm38)	Y192*	probably null	Het
Olfr1241	A	T	2: 89,482,511 (GRCm38)	V208D	possibly damaging	Het
Olfr166	T	G	16: 19,487,628 (GRCm38)	S263R	probably benign	Het
Olfr478	C	T	7: 108,032,388 (GRCm38)		probably null	Het
Olfr646	G	T	7: 104,106,689 (GRCm38)	V137F	possibly damaging	Het
Pard3b	T	C	1: 62,345,029 (GRCm38)	V851A	probably benign	Het
Pcdhb16	A	T	18: 37,478,089 (GRCm38)	Y34F	probably damaging	Het
Pikfyve	T	C	1: 65,251,666 (GRCm38)	Y1215H	probably damaging	Het
Pkhd1	A	T	1: 20,523,341 (GRCm38)	V1516E	probably damaging	Het
Pla2g4a	A	T	1: 149,887,593 (GRCm38)		probably benign	Het
Ptprg	A	T	14: 12,190,767 (GRCm38)	I818F	probably benign	Het
Ralgapb	A	G	2: 158,462,253 (GRCm38)	E644G	possibly damaging	Het
Rbm45	A	G	2: 76,372,115 (GRCm38)	I127M	probably damaging	Het
Rtp2	T	C	16: 23,927,470 (GRCm38)	Y157C	probably damaging	Het
Sema3f	A	T	9: 107,687,572 (GRCm38)		probably benign	Het
Sf3b3	A	T	8: 110,837,374 (GRCm38)	Y329N	probably damaging	Het
Sfxn1	A	G	13: 54,085,627 (GRCm38)		probably null	Het
Shkbp1	A	T	7: 27,345,326 (GRCm38)	C447S	probably damaging	Het
Sipa1l3	A	G	7: 29,322,260 (GRCm38)	S689P	possibly damaging	Het
Slc7a8	A	G	14: 54,733,199 (GRCm38)	S332P	probably damaging	Het
Slit1	C	A	19: 41,608,384 (GRCm38)	C1092F	probably damaging	Het
Stard9	A	G	2: 120,703,197 (GRCm38)	I619V	possibly damaging	Het
Sycp3	T	C	10: 88,469,592 (GRCm38)	V185A	possibly damaging	Het
Taar9	A	T	10: 24,109,484 (GRCm38)	N17K	possibly damaging	Het
Tbkbp1	T	C	11: 97,148,988 (GRCm38)	E102G	probably damaging	Het
Tex44	A	G	1: 86,427,112 (GRCm38)	N248D	probably benign	Het
Tmem63b	C	G	17: 45,678,978 (GRCm38)	R88P	possibly damaging	Het
Tnpo1	C	T	13: 98,850,157 (GRCm38)	V781I	probably benign	Het
Tonsl	C	T	15: 76,636,561 (GRCm38)		probably null	Het
Ttc6	A	G	12: 57,674,677 (GRCm38)	K984R	possibly damaging	Het
Usp34	A	G	11: 23,441,171 (GRCm38)	E2263G	probably damaging	Het
Usp8	A	G	2: 126,754,927 (GRCm38)	K875E	probably damaging	Het
Vapb	C	T	2: 173,762,112 (GRCm38)		probably benign	Het
Vmn1r223	A	G	13: 23,249,868 (GRCm38)	I211V	possibly damaging	Het
Vmn2r81	G	A	10: 79,293,662 (GRCm38)	V796I	probably damaging	Het
Wdr90	A	T	17: 25,854,053 (GRCm38)	V856D	probably damaging	Het
Wnk2	T	A	13: 49,082,095 (GRCm38)	T615S	probably damaging	Het

Other mutations in Mucl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0164:Mucl2	UTSW	15	103,899,179 (GRCm38)	splice site	probably null
R1468:Mucl2	UTSW	15	103,897,407 (GRCm38)	missense	possibly damaging	0.66
R1760:Mucl2	UTSW	15	103,897,572 (GRCm38)	missense	possibly damaging	0.66
R2188:Mucl2	UTSW	15	103,897,574 (GRCm38)	missense	probably damaging	0.97
R2473:Mucl2	UTSW	15	103,897,362 (GRCm38)	missense	possibly damaging	0.82
R3792:Mucl2	UTSW	15	103,898,426 (GRCm38)	missense	possibly damaging	0.66
R5250:Mucl2	UTSW	15	103,897,467 (GRCm38)	missense	possibly damaging	0.66
R5934:Mucl2	UTSW	15	103,897,566 (GRCm38)	missense	probably benign	0.27
R7313:Mucl2	UTSW	15	103,899,179 (GRCm38)	splice site	probably null
R7532:Mucl2	UTSW	15	103,896,052 (GRCm38)	missense	unknown
R7555:Mucl2	UTSW	15	103,897,445 (GRCm38)	missense	probably benign	0.03
R8952:Mucl2	UTSW	15	103,899,179 (GRCm38)	splice site	probably null
R8972:Mucl2	UTSW	15	103,897,594 (GRCm38)	critical splice acceptor site	probably null
R9035:Mucl2	UTSW	15	103,896,013 (GRCm38)	missense	unknown
RF015:Mucl2	UTSW	15	103,897,430 (GRCm38)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- CCATGCTACCTGGAGACACTTTACAC -3'
(R):5'- ACTGGCTCTGAAACTCAGGCAGATAG -3'

Sequencing Primer
(F):5'- GGAAAAAAGGGTCTCTTCTTCTCC -3'
(R):5'- AATGAGGCCTCTGAGGAAGA -3'

Posted On

2014-05-23