Mutagenetix > Incidental Mutation

Incidental Mutation 'R9748:Tulp4'

732360

Institutional Source

Beutler Lab

Gene Symbol

Tulp4

Ensembl Gene

ENSMUSG00000034377

Gene Name

tubby like protein 4

Synonyms

2210038L17Rik, 1110057P05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.677) question?

Stock #

R9748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6156528-6290912 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 6291480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9JIL5

Predicted Effect

probably benign
Transcript: ENSMUST00000039655

SMART Domains

Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377

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 null
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

probably null
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

probably benign
Transcript: ENSMUST00000149756

SMART Domains

Protein: ENSMUSP00000123218
Gene: ENSMUSG00000034377

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,301,068 (GRCm39)	T221A	probably benign	Het
Adamts12	G	A	15: 11,310,628 (GRCm39)	V962I	probably damaging	Het
Ano3	T	A	2: 110,488,640 (GRCm39)	I931F	probably damaging	Het
Anxa2r2	T	A	13: 120,488,200 (GRCm39)	E116D	possibly damaging	Het
Arih1	T	G	9: 59,300,581 (GRCm39)	D555A	possibly damaging	Het
Arsg	A	G	11: 109,381,452 (GRCm39)	D65G	probably damaging	Het
Atp8b3	G	A	10: 80,364,407 (GRCm39)	T567I	probably damaging	Het
Camkk2	G	C	5: 122,872,182 (GRCm39)	R575G	probably benign	Het
Ccdc168	G	T	1: 44,095,824 (GRCm39)	S1758Y	possibly damaging	Het
Ccdc88b	G	T	19: 6,831,461 (GRCm39)	L494M	probably damaging	Het
Cdc7	A	G	5: 107,123,405 (GRCm39)	K317E	possibly damaging	Het
Cfh	A	G	1: 140,090,687 (GRCm39)		probably null	Het
Cp	T	G	3: 20,043,335 (GRCm39)	V1041G	possibly damaging	Het
Cpeb3	A	G	19: 37,151,926 (GRCm39)	V150A	probably benign	Het
Cyp7a1	T	A	4: 6,269,216 (GRCm39)	E352V	probably damaging	Het
Dnah9	T	A	11: 65,976,290 (GRCm39)	H1253L	possibly damaging	Het
Dsg3	T	C	18: 20,672,761 (GRCm39)	S811P	possibly damaging	Het
Efcab5	A	T	11: 77,007,022 (GRCm39)	Y867*	probably null	Het
Eif2ak1	A	G	5: 143,819,031 (GRCm39)	T231A	probably damaging	Het
Eif2ak4	T	A	2: 118,247,730 (GRCm39)	C256S	probably benign	Het
Eif5b	A	G	1: 38,090,241 (GRCm39)	N1140S	possibly damaging	Het
Etnppl	A	T	3: 130,414,002 (GRCm39)	M34L	probably benign	Het
Fcrl5	T	G	3: 87,364,469 (GRCm39)	C549W	possibly damaging	Het
Fhod1	G	A	8: 106,058,323 (GRCm39)	A811V	probably damaging	Het
Flcn	C	T	11: 59,692,980 (GRCm39)	S198N	probably benign	Het
Fndc1	T	A	17: 7,991,929 (GRCm39)	H589L	unknown	Het
Gm8108	G	T	14: 4,110,527 (GRCm38)		probably benign	Het
Hcn4	C	T	9: 58,730,996 (GRCm39)	R68W	unknown	Het
Igfn1	A	G	1: 135,926,336 (GRCm39)	L38P	possibly damaging	Het
Il1r1	A	G	1: 40,349,496 (GRCm39)	T351A	probably benign	Het
Ildr2	T	C	1: 166,096,889 (GRCm39)	L36P	probably damaging	Het
Itgb1bp1	C	T	12: 21,324,876 (GRCm39)	C60Y	probably damaging	Het
Jrk	A	G	15: 74,579,225 (GRCm39)	L20P	probably damaging	Het
Kif5c	C	T	2: 49,584,859 (GRCm39)	A194V	probably damaging	Het
Lrp4	C	T	2: 91,316,116 (GRCm39)	L745F	probably damaging	Het
Ly9	A	T	1: 171,428,722 (GRCm39)	D299E	possibly damaging	Het
Mfsd1	C	T	3: 67,499,910 (GRCm39)	T185I	possibly damaging	Het
Mprip	A	G	11: 59,656,348 (GRCm39)	Y808C	probably damaging	Het
Mrps2	C	A	2: 28,359,594 (GRCm39)	H150Q	possibly damaging	Het
Mtcl3	A	T	10: 29,024,398 (GRCm39)	D438V	probably damaging	Het
Mturn	A	T	6: 54,665,989 (GRCm39)		probably null	Het
Myo5a	T	C	9: 75,091,965 (GRCm39)	S1205P	probably damaging	Het
Nckap5	G	A	1: 125,953,939 (GRCm39)	P871L	probably damaging	Het
Ndst3	T	A	3: 123,421,631 (GRCm39)	I401F	probably benign	Het
Nek4	G	A	14: 30,709,114 (GRCm39)	V723M	possibly damaging	Het
Nfe2l2	A	G	2: 75,506,667 (GRCm39)	S478P	probably damaging	Het
Nol6	T	C	4: 41,123,538 (GRCm39)	Y70C	probably damaging	Het
Nup88	T	C	11: 70,860,497 (GRCm39)	E94G	probably benign	Het
Oas1h	A	T	5: 121,005,088 (GRCm39)	N179Y	probably damaging	Het
Or1o11	T	G	17: 37,756,595 (GRCm39)	V61G	probably benign	Het
Or8b39	T	A	9: 37,996,353 (GRCm39)	S74T	probably benign	Het
Otof	T	C	5: 30,540,998 (GRCm39)	D847G	probably damaging	Het
Pak1	C	A	7: 97,547,842 (GRCm39)	D331E	possibly damaging	Het
Pkd1l3	T	C	8: 110,373,555 (GRCm39)	W1374R	probably benign	Het
Pkdrej	G	T	15: 85,704,871 (GRCm39)	T355K	possibly damaging	Het
Pramel27	A	G	4: 143,579,892 (GRCm39)	*492W	probably null	Het
Prkcd	A	T	14: 30,320,800 (GRCm39)	F607I	possibly damaging	Het
Prrc2c	A	G	1: 162,535,435 (GRCm39)	S775P	unknown	Het
Prss16	G	T	13: 22,192,504 (GRCm39)	H154N	possibly damaging	Het
Psme2b	T	C	11: 48,836,779 (GRCm39)	D56G	possibly damaging	Het
Rapsn	C	T	2: 90,875,823 (GRCm39)	P400L	probably damaging	Het
Rptn	A	G	3: 93,304,761 (GRCm39)	D698G	possibly damaging	Het
Rragc	T	C	4: 123,818,658 (GRCm39)	V291A	possibly damaging	Het
Rras2	A	G	7: 113,716,629 (GRCm39)		probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scyl2	A	C	10: 89,476,794 (GRCm39)	M777R	probably benign	Het
Serhl	G	T	15: 82,998,597 (GRCm39)	V235L	probably benign	Het
Sh2b3	T	C	5: 121,955,874 (GRCm39)	Y536C	probably damaging	Het
Sh3pxd2a	T	C	19: 47,257,093 (GRCm39)	M570V	probably benign	Het
Slamf8	C	T	1: 172,411,800 (GRCm39)	V232M	probably benign	Het
Slc6a21	T	A	7: 44,929,941 (GRCm39)	L143Q	probably damaging	Het
Snx9	T	A	17: 5,949,670 (GRCm39)	D123E	probably benign	Het
Spopfm2	G	A	3: 94,083,155 (GRCm39)	H219Y	probably damaging	Het
Supt6	C	A	11: 78,108,767 (GRCm39)	R1178L	probably damaging	Het
Sycp2	T	G	2: 178,025,304 (GRCm39)	E379D	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tg	A	G	15: 66,719,008 (GRCm39)	M2655V	possibly damaging	Het
Tiam2	C	T	17: 3,561,440 (GRCm39)	T1335I	probably benign	Het
Tmem154	T	A	3: 84,573,693 (GRCm39)	L12Q	possibly damaging	Het
Trpv3	A	T	11: 73,174,499 (GRCm39)	I289F	possibly damaging	Het
Tubgcp3	A	G	8: 12,699,758 (GRCm39)	L365P	probably damaging	Het
Tyr	A	G	7: 87,142,072 (GRCm39)	S163P	possibly damaging	Het
Usp42	A	T	5: 143,713,533 (GRCm39)		probably null	Het
Vmn2r94	A	G	17: 18,463,989 (GRCm39)	M767T	probably benign	Het
Wasl	A	G	6: 24,619,533 (GRCm39)	V329A	unknown	Het
Wdr62	T	A	7: 29,953,466 (GRCm39)	M635L	possibly damaging	Het
Wee1	G	T	7: 109,721,722 (GRCm39)	E56*	probably null	Het
Zc3h12c	C	T	9: 52,055,231 (GRCm39)	G193S	probably damaging	Het
Zfp236	T	A	18: 82,637,008 (GRCm39)	Q1426L	possibly damaging	Het
Zfp74	T	C	7: 29,634,751 (GRCm39)	Y319C	probably damaging	Het

Other mutations in Tulp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Tulp4	APN	17	6,189,351 (GRCm39)	missense	probably damaging	0.97
IGL02503:Tulp4	APN	17	6,263,666 (GRCm39)	missense	probably damaging	0.99
IGL03012:Tulp4	APN	17	6,263,654 (GRCm39)	splice site	probably benign
IGL03219:Tulp4	APN	17	6,189,285 (GRCm39)	missense	probably damaging	1.00
tuba_mirum	UTSW	17	6,252,094 (GRCm39)	missense	probably damaging	1.00
R0066:Tulp4	UTSW	17	6,252,008 (GRCm39)	missense	probably damaging	0.99
R0066:Tulp4	UTSW	17	6,252,008 (GRCm39)	missense	probably damaging	0.99
R0711:Tulp4	UTSW	17	6,189,387 (GRCm39)	missense	possibly damaging	0.94
R1718:Tulp4	UTSW	17	6,272,715 (GRCm39)	missense	probably benign	0.39
R1736:Tulp4	UTSW	17	6,283,490 (GRCm39)	missense	possibly damaging	0.66
R1775:Tulp4	UTSW	17	6,189,321 (GRCm39)	missense	probably damaging	0.96
R1793:Tulp4	UTSW	17	6,189,387 (GRCm39)	missense	possibly damaging	0.94
R3160:Tulp4	UTSW	17	6,248,983 (GRCm39)	start codon destroyed	probably null	0.94
R3162:Tulp4	UTSW	17	6,248,983 (GRCm39)	start codon destroyed	probably null	0.94
R3431:Tulp4	UTSW	17	6,257,239 (GRCm39)	missense	probably benign	0.03
R4081:Tulp4	UTSW	17	6,282,055 (GRCm39)	missense	probably damaging	1.00
R4082:Tulp4	UTSW	17	6,282,055 (GRCm39)	missense	probably damaging	1.00
R4610:Tulp4	UTSW	17	6,249,108 (GRCm39)	missense	probably damaging	0.96
R4963:Tulp4	UTSW	17	6,249,088 (GRCm39)	missense	probably damaging	1.00
R4966:Tulp4	UTSW	17	6,249,088 (GRCm39)	missense	probably damaging	1.00
R5386:Tulp4	UTSW	17	6,286,568 (GRCm39)	missense	probably damaging	1.00
R6019:Tulp4	UTSW	17	6,283,490 (GRCm39)	missense	possibly damaging	0.66
R6275:Tulp4	UTSW	17	6,249,011 (GRCm39)	missense	probably damaging	1.00
R6294:Tulp4	UTSW	17	6,252,094 (GRCm39)	missense	probably damaging	1.00
R6587:Tulp4	UTSW	17	6,282,146 (GRCm39)	missense	possibly damaging	0.62
R6680:Tulp4	UTSW	17	6,189,312 (GRCm39)	missense	probably damaging	1.00
R7030:Tulp4	UTSW	17	6,264,941 (GRCm39)	missense	probably damaging	1.00
R7068:Tulp4	UTSW	17	6,235,564 (GRCm39)	missense	probably damaging	1.00
R7109:Tulp4	UTSW	17	6,282,055 (GRCm39)	missense	probably damaging	1.00
R7110:Tulp4	UTSW	17	6,282,055 (GRCm39)	missense	probably damaging	1.00
R7229:Tulp4	UTSW	17	6,282,055 (GRCm39)	missense	probably damaging	1.00
R7230:Tulp4	UTSW	17	6,282,055 (GRCm39)	missense	probably damaging	1.00
R7231:Tulp4	UTSW	17	6,286,510 (GRCm39)	missense	probably benign	0.03
R7438:Tulp4	UTSW	17	6,248,983 (GRCm39)	missense	probably benign	0.42
R7750:Tulp4	UTSW	17	6,283,399 (GRCm39)	missense	probably damaging	1.00
R8312:Tulp4	UTSW	17	6,257,333 (GRCm39)	critical splice donor site	probably null
R8772:Tulp4	UTSW	17	6,227,168 (GRCm39)	missense	probably damaging	1.00
R8821:Tulp4	UTSW	17	6,189,409 (GRCm39)	missense	probably damaging	0.99
R8849:Tulp4	UTSW	17	6,272,656 (GRCm39)	missense	probably benign	0.13
R9027:Tulp4	UTSW	17	6,283,472 (GRCm39)	missense	possibly damaging	0.88
R9448:Tulp4	UTSW	17	6,248,948 (GRCm39)	missense	possibly damaging	0.91
R9681:Tulp4	UTSW	17	6,274,500 (GRCm39)	missense	possibly damaging	0.86
X0067:Tulp4	UTSW	17	6,257,198 (GRCm39)	missense	possibly damaging	0.93
Z1177:Tulp4	UTSW	17	6,274,480 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGTGCTAATAAATATGTTGGTGCC -3'
(R):5'- ATGTGTGAGGGATGACTGCAC -3'

Sequencing Primer
(F):5'- ATAAATATGTTGGTGCCTCAGTGCC -3'
(R):5'- GGATGACTGCACCAGGTG -3'

Posted On

2022-11-14