Mutagenetix > Incidental Mutation

Incidental Mutation 'R4081:Tulp4'

368252

Institutional Source

Beutler Lab

Gene Symbol

Tulp4

Ensembl Gene

ENSMUSG00000034377

Gene Name

tubby like protein 4

Synonyms

2210038L17Rik, 1110057P05Rik

MMRRC Submission

040977-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.742) question?

Stock #

R4081 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

6106437-6251128 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6231780 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 695 (H695Y)

Ref Sequence

ENSEMBL: ENSMUSP00000049248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039655] [ENSMUST00000149756]

AlphaFold

Q9JIL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000039655
AA Change: H695Y

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

SMART Domains

Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377
AA Change: H695Y

Domain	Start	End	E-Value	Type
WD40	71	110	2.49e-1	SMART
Blast:WD40	113	153	9e-21	BLAST
WD40	159	195	1.84e1	SMART
low complexity region	226	238	N/A	INTRINSIC
Blast:WD40	275	306	8e-8	BLAST
Blast:WD40	330	371	1e-14	BLAST
SOCS_box	374	411	2.31e-1	SMART
SCOP:d1c8za_	418	505	1e-18	SMART
low complexity region	509	518	N/A	INTRINSIC
low complexity region	528	547	N/A	INTRINSIC
SCOP:d1c8za_	594	669	8e-12	SMART
low complexity region	770	789	N/A	INTRINSIC
low complexity region	837	864	N/A	INTRINSIC
low complexity region	1021	1026	N/A	INTRINSIC
low complexity region	1041	1056	N/A	INTRINSIC
low complexity region	1174	1181	N/A	INTRINSIC
low complexity region	1188	1197	N/A	INTRINSIC
Pfam:Tub	1346	1543	2e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137063

SMART Domains

Protein: ENSMUSP00000123119
Gene: ENSMUSG00000034377

Domain	Start	End	E-Value	Type
low complexity region	37	42	N/A	INTRINSIC
low complexity region	57	72	N/A	INTRINSIC
low complexity region	190	197	N/A	INTRINSIC
low complexity region	204	213	N/A	INTRINSIC
Pfam:Tub	345	537	3.3e-11	PFAM
low complexity region	603	639	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141059

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149756
AA Change: H502Y

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123218
Gene: ENSMUSG00000034377
AA Change: H502Y

Domain	Start	End	E-Value	Type
low complexity region	33	45	N/A	INTRINSIC
Blast:WD40	82	113	6e-8	BLAST
Blast:WD40	137	178	1e-14	BLAST
SOCS_box	181	218	2.31e-1	SMART
SCOP:d1c8za_	225	312	2e-18	SMART
low complexity region	316	325	N/A	INTRINSIC
low complexity region	335	354	N/A	INTRINSIC
SCOP:d1c8za_	401	476	9e-12	SMART
low complexity region	577	596	N/A	INTRINSIC
low complexity region	644	671	N/A	INTRINSIC
low complexity region	828	833	N/A	INTRINSIC
low complexity region	848	863	N/A	INTRINSIC
low complexity region	981	988	N/A	INTRINSIC
low complexity region	995	1004	N/A	INTRINSIC
coiled coil region	1187	1215	N/A	INTRINSIC
Pfam:Tub	1224	1350	5.3e-26	PFAM

Meta Mutation Damage Score

0.0779

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	G	T	12: 55,304,613	V236F	possibly damaging	Het
Aass	A	T	6: 23,109,498	D324E	possibly damaging	Het
Adad1	A	G	3: 37,064,363		probably null	Het
Aim2	T	C	1: 173,459,851		probably null	Het
Arhgef1	G	T	7: 24,925,846	D850Y	probably damaging	Het
Ccnf	T	C	17: 24,223,898	*778W	probably null	Het
Cd53	T	C	3: 106,762,145	H179R	probably benign	Het
Cit	G	T	5: 115,948,050	R891L	probably damaging	Het
Clec4b1	T	C	6: 123,069,774		probably null	Het
Cntrl	C	A	2: 35,161,926		probably benign	Het
Cntrl	A	G	2: 35,175,125	D2148G	probably damaging	Het
Cpa5	T	C	6: 30,631,229	S381P	probably benign	Het
Crybg1	A	T	10: 43,975,039	V1612D	probably damaging	Het
Cwc25	G	T	11: 97,753,918	Q205K	probably benign	Het
Cyp2d11	A	T	15: 82,391,801	I193N	possibly damaging	Het
Gdi2	T	A	13: 3,548,866	C17S	probably benign	Het
Gm5436	T	A	12: 84,258,715		noncoding transcript	Het
Ifit1bl1	T	C	19: 34,594,640	Y139C	possibly damaging	Het
Insr	A	T	8: 3,211,391	M321K	probably benign	Het
Ippk	T	A	13: 49,446,376	L237Q	probably damaging	Het
Itpr1	T	A	6: 108,391,835	I149N	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lrp2	T	A	2: 69,513,273	H914L	probably damaging	Het
Myd88	G	T	9: 119,339,987		probably benign	Het
Myh2	T	C	11: 67,190,430	S1291P	probably benign	Het
Mylk3	G	A	8: 85,328,682	L549F	probably damaging	Het
Otog	T	C	7: 46,288,299	S1811P	possibly damaging	Het
Phrf1	T	C	7: 141,259,057		probably benign	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Ptprh	T	A	7: 4,580,988	T202S	probably damaging	Het
Ptprr	A	T	10: 116,236,710	K329N	probably benign	Het
Rgl3	T	A	9: 21,987,675	H156L	possibly damaging	Het
Sema6b	A	G	17: 56,128,307	V312A	probably damaging	Het
Sez6l	T	C	5: 112,461,166	I606V	probably benign	Het
Slco1a1	T	C	6: 141,935,962	E148G	probably damaging	Het
Snph	T	C	2: 151,593,802	D402G	probably damaging	Het
Sohlh1	A	G	2: 25,845,722	V135A	probably benign	Het
Sox14	T	C	9: 99,875,224	E154G	possibly damaging	Het
Spta1	A	G	1: 174,214,066	D1334G	probably benign	Het
Stard13	C	A	5: 151,092,829		probably null	Het
Szt2	A	G	4: 118,373,567		probably benign	Het
Tab2	G	A	10: 7,919,831	P296S	probably damaging	Het
Tbx15	A	G	3: 99,313,054	D48G	possibly damaging	Het
Tex10	T	C	4: 48,468,873	S101G	probably benign	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Vmn1r66	A	G	7: 10,274,806	I100T	probably damaging	Het
Vmn2r106	A	T	17: 20,267,556	Y860*	probably null	Het
Vwa3b	C	T	1: 37,035,824	T24I	probably damaging	Het
Zfp541	G	A	7: 16,072,135	S65N	probably benign	Het
Zfp992	C	T	4: 146,467,519	H566Y	probably damaging	Het

Other mutations in Tulp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Tulp4	APN	17	6139076	missense	probably damaging	0.97
IGL02503:Tulp4	APN	17	6213391	missense	probably damaging	0.99
IGL03012:Tulp4	APN	17	6213379	splice site	probably benign
IGL03219:Tulp4	APN	17	6139010	missense	probably damaging	1.00
tuba_mirum	UTSW	17	6201819	missense	probably damaging	1.00
R0066:Tulp4	UTSW	17	6201733	missense	probably damaging	0.99
R0066:Tulp4	UTSW	17	6201733	missense	probably damaging	0.99
R0711:Tulp4	UTSW	17	6139112	missense	possibly damaging	0.94
R1718:Tulp4	UTSW	17	6222440	missense	probably benign	0.39
R1736:Tulp4	UTSW	17	6233215	missense	possibly damaging	0.66
R1775:Tulp4	UTSW	17	6139046	missense	probably damaging	0.96
R1793:Tulp4	UTSW	17	6139112	missense	possibly damaging	0.94
R3160:Tulp4	UTSW	17	6198708	start codon destroyed	probably null	0.94
R3162:Tulp4	UTSW	17	6198708	start codon destroyed	probably null	0.94
R3431:Tulp4	UTSW	17	6206964	missense	probably benign	0.03
R4082:Tulp4	UTSW	17	6231780	missense	probably damaging	1.00
R4610:Tulp4	UTSW	17	6198833	missense	probably damaging	0.96
R4963:Tulp4	UTSW	17	6198813	missense	probably damaging	1.00
R4966:Tulp4	UTSW	17	6198813	missense	probably damaging	1.00
R5386:Tulp4	UTSW	17	6236293	missense	probably damaging	1.00
R6019:Tulp4	UTSW	17	6233215	missense	possibly damaging	0.66
R6275:Tulp4	UTSW	17	6198736	missense	probably damaging	1.00
R6294:Tulp4	UTSW	17	6201819	missense	probably damaging	1.00
R6587:Tulp4	UTSW	17	6231871	missense	possibly damaging	0.62
R6680:Tulp4	UTSW	17	6139037	missense	probably damaging	1.00
R7030:Tulp4	UTSW	17	6214666	missense	probably damaging	1.00
R7068:Tulp4	UTSW	17	6185289	missense	probably damaging	1.00
R7109:Tulp4	UTSW	17	6231780	missense	probably damaging	1.00
R7110:Tulp4	UTSW	17	6231780	missense	probably damaging	1.00
R7229:Tulp4	UTSW	17	6231780	missense	probably damaging	1.00
R7230:Tulp4	UTSW	17	6231780	missense	probably damaging	1.00
R7231:Tulp4	UTSW	17	6236235	missense	probably benign	0.03
R7438:Tulp4	UTSW	17	6198708	missense	probably benign	0.42
R7750:Tulp4	UTSW	17	6233124	missense	probably damaging	1.00
R8312:Tulp4	UTSW	17	6207058	critical splice donor site	probably null
R8772:Tulp4	UTSW	17	6176893	missense	probably damaging	1.00
R8821:Tulp4	UTSW	17	6139134	missense	probably damaging	0.99
R8849:Tulp4	UTSW	17	6222381	missense	probably benign	0.13
R9027:Tulp4	UTSW	17	6233197	missense	possibly damaging	0.88
R9448:Tulp4	UTSW	17	6198673	missense	possibly damaging	0.91
R9681:Tulp4	UTSW	17	6224225	missense	possibly damaging	0.86
R9748:Tulp4	UTSW	17	6241205	critical splice donor site	probably null
X0067:Tulp4	UTSW	17	6206923	missense	possibly damaging	0.93
Z1177:Tulp4	UTSW	17	6224205	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GTCCCTGCTGACCAATCAAAATG -3'
(R):5'- CAGGATTGGAGTACCGACTG -3'

Sequencing Primer
(F):5'- CTGACCAATCAAAATGTGCAGTTGG -3'
(R):5'- TACCGACTGGAGACTGGGTACTG -3'

Posted On

2016-01-11