Mutagenetix > Incidental Mutation

Incidental Mutation 'R9448:Tulp4'

714095

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: 0.693) question?

Stock #

R9448 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6156528-6290912 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6248948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 182 (V182A)

Ref Sequence

ENSEMBL: ENSMUSP00000049248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039655] [ENSMUST00000142030] [ENSMUST00000149756]

AlphaFold

Q9JIL5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039655
AA Change: V182A

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049248
Gene: ENSMUSG00000034377
AA Change: V182A

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: ENSMUST00000142030

SMART Domains

Protein: ENSMUSP00000120358
Gene: ENSMUSG00000034377

Domain	Start	End	E-Value	Type
low complexity region	33	45	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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,099,575 (GRCm39)	V685A	possibly damaging	Het
Atg9a	G	T	1: 75,162,849 (GRCm39)	T417K	probably benign	Het
Atp6v1a	T	A	16: 43,931,872 (GRCm39)	K139*	probably null	Het
Baz1b	T	C	5: 135,239,656 (GRCm39)	I252T	probably damaging	Het
Ccdc191	T	A	16: 43,759,338 (GRCm39)	W380R		Het
Cep290	T	G	10: 100,395,546 (GRCm39)	V2118G	probably benign	Het
Crb2	A	G	2: 37,677,773 (GRCm39)	D352G	probably benign	Het
Csmd3	T	C	15: 47,460,315 (GRCm39)	D2581G		Het
Diras2	T	A	13: 52,662,122 (GRCm39)	T62S	possibly damaging	Het
Dmrt1	T	C	19: 25,523,255 (GRCm39)	V202A	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Dph7	A	T	2: 24,861,952 (GRCm39)	K455M	probably damaging	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Ehbp1	T	C	11: 22,087,881 (GRCm39)	N426S	probably benign	Het
Exo5	A	G	4: 120,778,888 (GRCm39)	W326R	probably damaging	Het
Fam149a	T	A	8: 45,792,411 (GRCm39)		probably null	Het
Flii	T	C	11: 60,606,393 (GRCm39)	N1099S	probably benign	Het
Flvcr1	T	C	1: 190,744,406 (GRCm39)	T381A	possibly damaging	Het
Foxl1	T	C	8: 121,855,608 (GRCm39)	V303A	probably benign	Het
Fsd1l	G	T	4: 53,694,826 (GRCm39)	E427*	probably null	Het
Galnt18	A	T	7: 111,153,649 (GRCm39)	I325N	probably damaging	Het
Gm5478	T	C	15: 101,553,662 (GRCm39)	N274S	probably damaging	Het
Grm7	A	T	6: 111,335,193 (GRCm39)	T535S	probably benign	Het
Heatr5b	T	C	17: 79,068,015 (GRCm39)	D1791G	probably benign	Het
Igkv12-98	T	C	6: 68,548,156 (GRCm39)	I95T	probably damaging	Het
Il1rl2	A	G	1: 40,366,604 (GRCm39)	Y46C	probably benign	Het
Inhca	G	T	9: 103,149,781 (GRCm39)	Q259K	probably benign	Het
Kdr	T	C	5: 76,102,569 (GRCm39)	E1186G	probably benign	Het
Knstrn	T	C	2: 118,644,975 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Ltbp1	C	T	17: 75,666,455 (GRCm39)	Q1383*	probably null	Het
Mep1a	T	C	17: 43,805,869 (GRCm39)		probably null	Het
Mep1b	A	G	18: 21,217,199 (GRCm39)	D106G	probably damaging	Het
Moxd2	T	C	6: 40,864,160 (GRCm39)	N90S	probably benign	Het
Ms4a4c	T	A	19: 11,392,317 (GRCm39)		probably null	Het
Nlrp4e	A	T	7: 23,000,956 (GRCm39)	M84L	probably benign	Het
Noc2l	C	A	4: 156,320,781 (GRCm39)	R66S	probably benign	Het
Nox4	A	T	7: 87,045,001 (GRCm39)	L580F	unknown	Het
Numb	A	G	12: 83,888,990 (GRCm39)		probably null	Het
Or1l4	A	G	2: 37,091,221 (GRCm39)		probably benign	Het
Or5w13	A	T	2: 87,523,824 (GRCm39)	V134E	probably damaging	Het
Parp8	T	A	13: 117,039,360 (GRCm39)	K274*	probably null	Het
Pcdh1	G	A	18: 38,330,492 (GRCm39)	P976L	probably damaging	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Pdzk1	A	T	3: 96,761,922 (GRCm39)	D178V	probably damaging	Het
Phldb1	G	T	9: 44,622,546 (GRCm39)	L36M	possibly damaging	Het
Pip5k1c	A	G	10: 81,141,645 (GRCm39)	E111G	probably damaging	Het
Plcb4	G	A	2: 135,752,045 (GRCm39)	E84K	possibly damaging	Het
Prpf39	T	A	12: 65,108,034 (GRCm39)	Y646N	probably benign	Het
Psmc6	T	C	14: 45,568,483 (GRCm39)	F69L	probably benign	Het
Ptk2	T	A	15: 73,215,041 (GRCm39)	S46C	possibly damaging	Het
Ptpn6	G	A	6: 124,709,771 (GRCm39)	R23W	probably damaging	Het
Ptprb	T	A	10: 116,149,819 (GRCm39)	Y143*	probably null	Het
Qrich2	T	C	11: 116,338,091 (GRCm39)	E141G	probably benign	Het
Rsf1	G	GCCGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Scn5a	A	G	9: 119,381,127 (GRCm39)	L136P	probably damaging	Het
Slc12a6	T	C	2: 112,179,704 (GRCm39)	F676S	probably damaging	Het
Spata31f1a	A	T	4: 42,850,250 (GRCm39)	Y635*	probably null	Het
Spata31f1e	T	C	4: 42,793,440 (GRCm39)	R231G	probably benign	Het
Spata32	C	T	11: 103,099,648 (GRCm39)	G286R	probably damaging	Het
Tbx19	T	C	1: 164,981,090 (GRCm39)	K135E	probably damaging	Het
Tdrd6	T	C	17: 43,936,567 (GRCm39)	T1494A	probably benign	Het
Tmem62	A	C	2: 120,808,211 (GRCm39)	D71A	probably damaging	Het
Tnfsf15	A	T	4: 63,663,305 (GRCm39)	V6D	possibly damaging	Het
Vmn2r73	A	T	7: 85,522,027 (GRCm39)	V104D	probably benign	Het
Zdhhc8	C	A	16: 18,039,558 (GRCm39)	G159C		Het
Zfy2	A	G	Y: 2,109,904 (GRCm39)	W338R	probably damaging	Het
Znfx1	T	G	2: 166,888,844 (GRCm39)	Q788P	probably benign	Het
Zscan26	A	G	13: 21,632,431 (GRCm39)	V100A	probably benign	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
R9681:Tulp4	UTSW	17	6,274,500 (GRCm39)	missense	possibly damaging	0.86
R9748:Tulp4	UTSW	17	6,291,480 (GRCm39)	critical splice donor site	probably null
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'- TCATTGTGCTGCTGGTCAC -3'
(R):5'- GGAGAATAATCATCCGAGTCAGTG -3'

Sequencing Primer
(F):5'- CATTATAGGGACTGTCTCCTGGAAC -3'
(R):5'- ATAATCATCCGAGTCAGTGTCACTC -3'

Posted On

2022-06-15