Mutagenetix > Incidental Mutation

Incidental Mutation 'R7185:Dennd4c'

559225

Institutional Source

Beutler Lab

Gene Symbol

Dennd4c

Ensembl Gene

ENSMUSG00000038024

Gene Name

DENN domain containing 4C

Synonyms

1700065A05Rik

MMRRC Submission

045237-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86666792-86768840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86729687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 763 (Y763C)

Ref Sequence

ENSEMBL: ENSMUSP00000123367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045512] [ENSMUST00000082026] [ENSMUST00000142837]

AlphaFold

A6H8H2

Predicted Effect

probably damaging
Transcript: ENSMUST00000045512
AA Change: Y763C

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

SMART Domains

Protein: ENSMUSP00000039860
Gene: ENSMUSG00000038024
AA Change: Y763C

Domain	Start	End	E-Value	Type
internal_repeat_1	43	91	2.15e-5	PROSPERO
uDENN	168	275	3.96e-24	SMART
DENN	307	491	7.16e-72	SMART
dDENN	557	631	1.85e-24	SMART
low complexity region	983	1001	N/A	INTRINSIC
low complexity region	1013	1025	N/A	INTRINSIC
low complexity region	1045	1052	N/A	INTRINSIC
low complexity region	1102	1113	N/A	INTRINSIC
low complexity region	1175	1186	N/A	INTRINSIC
low complexity region	1377	1392	N/A	INTRINSIC
low complexity region	1472	1486	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000082026
AA Change: Y763C

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

SMART Domains

Protein: ENSMUSP00000080685
Gene: ENSMUSG00000038024
AA Change: Y763C

Domain	Start	End	E-Value	Type
internal_repeat_1	43	91	3.19e-5	PROSPERO
uDENN	168	275	3.96e-24	SMART
DENN	307	491	7.16e-72	SMART
dDENN	557	631	1.85e-24	SMART
low complexity region	983	1001	N/A	INTRINSIC
low complexity region	1013	1025	N/A	INTRINSIC
low complexity region	1045	1052	N/A	INTRINSIC
low complexity region	1102	1113	N/A	INTRINSIC
low complexity region	1175	1186	N/A	INTRINSIC
low complexity region	1377	1392	N/A	INTRINSIC
low complexity region	1472	1486	N/A	INTRINSIC
low complexity region	1724	1739	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000142837
AA Change: Y763C

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

SMART Domains

Protein: ENSMUSP00000123367
Gene: ENSMUSG00000038024
AA Change: Y763C

Domain	Start	End	E-Value	Type
internal_repeat_1	43	91	2.68e-5	PROSPERO
uDENN	168	275	3.96e-24	SMART
DENN	307	491	7.16e-72	SMART
dDENN	557	631	1.85e-24	SMART
low complexity region	934	952	N/A	INTRINSIC
low complexity region	964	976	N/A	INTRINSIC
low complexity region	996	1003	N/A	INTRINSIC
low complexity region	1053	1064	N/A	INTRINSIC
low complexity region	1126	1137	N/A	INTRINSIC
low complexity region	1328	1343	N/A	INTRINSIC
low complexity region	1423	1437	N/A	INTRINSIC
low complexity region	1675	1690	N/A	INTRINSIC

Meta Mutation Damage Score

0.2169

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	T	A	11: 117,725,599 (GRCm39)	D95E	possibly damaging	Het
Ak7	A	G	12: 105,708,535 (GRCm39)	E330G	probably damaging	Het
B3gat2	A	C	1: 23,802,272 (GRCm39)	D186A	probably damaging	Het
Baz1a	G	A	12: 55,022,093 (GRCm39)	T63M	probably damaging	Het
Bhmt2	A	T	13: 93,799,779 (GRCm39)	M219K	probably benign	Het
Cd200r1	A	G	16: 44,609,975 (GRCm39)	T65A	probably benign	Het
Cdc14a	T	C	3: 116,087,676 (GRCm39)	E494G	probably benign	Het
Cenpf	A	G	1: 189,385,686 (GRCm39)	L2198P	probably damaging	Het
Col4a2	T	A	8: 11,449,739 (GRCm39)	D117E	probably damaging	Het
Ddr2	C	A	1: 169,814,623 (GRCm39)	V607L	probably damaging	Het
Ecscr	T	A	18: 35,849,857 (GRCm39)	T93S	probably benign	Het
Eogt	C	T	6: 97,097,139 (GRCm39)	R321H	probably damaging	Het
Fam174c	G	A	10: 80,008,963 (GRCm39)	G55E	probably damaging	Het
Fras1	T	C	5: 96,784,635 (GRCm39)	S873P	probably damaging	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 141,710,266 (GRCm39)		probably benign	Het
Gm8247	A	G	14: 44,823,859 (GRCm39)	I182V		Het
Gpatch2	T	C	1: 186,958,394 (GRCm39)	S250P	probably damaging	Het
Gramd1b	T	C	9: 40,244,859 (GRCm39)	D183G	probably benign	Het
Hspa5	T	C	2: 34,665,138 (GRCm39)	V433A	probably damaging	Het
Igkv8-30	C	A	6: 70,094,590 (GRCm39)	Q4H	probably benign	Het
Igkv8-30	T	G	6: 70,094,591 (GRCm39)	Q4P	probably damaging	Het
Kcnj5	T	G	9: 32,233,472 (GRCm39)	N281T	probably damaging	Het
L1td1	A	G	4: 98,624,855 (GRCm39)	E350G	possibly damaging	Het
Layn	T	C	9: 50,985,173 (GRCm39)	T128A	possibly damaging	Het
Liph	T	C	16: 21,814,089 (GRCm39)	M11V	probably benign	Het
Lrp1b	C	T	2: 40,691,524 (GRCm39)		probably null	Het
Mcrip1	A	C	11: 120,435,505 (GRCm39)		probably null	Het
Myh1	G	A	11: 67,098,285 (GRCm39)	E486K	probably damaging	Het
Nav1	T	C	1: 135,398,746 (GRCm39)	K612R	possibly damaging	Het
Nek10	A	G	14: 14,846,621 (GRCm38)	K245E	probably benign	Het
Nipal1	T	A	5: 72,824,198 (GRCm39)	S181T	probably damaging	Het
Nme8	A	C	13: 19,862,053 (GRCm39)	L192R	probably damaging	Het
Nol7	G	A	13: 43,560,307 (GRCm39)		probably null	Het
Oas1b	G	A	5: 120,955,837 (GRCm39)	R205H	not run	Het
Or13j1	A	G	4: 43,706,082 (GRCm39)	I162T	possibly damaging	Het
Or4f56	T	G	2: 111,704,167 (GRCm39)	E11A	possibly damaging	Het
Or5w15	A	G	2: 87,568,489 (GRCm39)	Y60H	probably damaging	Het
Pcdhgb6	T	C	18: 37,876,701 (GRCm39)	S470P	probably benign	Het
Pdzk1ip1	A	T	4: 114,946,305 (GRCm39)	H55L	possibly damaging	Het
Pibf1	T	A	14: 99,344,752 (GRCm39)	M124K	possibly damaging	Het
Prr36	C	T	8: 4,266,458 (GRCm39)	G31R	probably damaging	Het
Ptchd4	C	A	17: 42,814,079 (GRCm39)	A660D	probably damaging	Het
Qsox2	A	G	2: 26,110,718 (GRCm39)	V166A	possibly damaging	Het
Rb1cc1	A	T	1: 6,308,607 (GRCm39)	Y164F	probably damaging	Het
Rest	C	A	5: 77,430,331 (GRCm39)	H917N	probably benign	Het
Rlig1	T	C	10: 100,425,073 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,315,024 (GRCm39)	C955R		Het
Scn7a	T	A	2: 66,518,139 (GRCm39)	N1024I	possibly damaging	Het
Sec11c	T	A	18: 65,947,963 (GRCm39)	D134E	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spo11	T	A	2: 172,823,985 (GRCm39)		probably null	Het
Srd5a3	T	C	5: 76,301,419 (GRCm39)	I216T	probably benign	Het
Tcaf3	T	C	6: 42,570,864 (GRCm39)	N296S	probably benign	Het
Tepsin	T	C	11: 119,984,643 (GRCm39)	D259G	probably damaging	Het
Themis	G	A	10: 28,657,873 (GRCm39)	S300N	probably benign	Het
Trhr2	T	A	8: 123,087,396 (GRCm39)	T15S	probably benign	Het
Uts2r	T	C	11: 121,051,706 (GRCm39)	V190A	probably benign	Het
Vmn2r77	A	C	7: 86,451,035 (GRCm39)	D307A	probably benign	Het
Xpa	G	T	4: 46,183,078 (GRCm39)	T237K	probably benign	Het
Zfp1006	A	T	8: 129,946,502 (GRCm39)	C108S	probably benign	Het
Zfp335	A	G	2: 164,735,164 (GRCm39)		probably null	Het
Zfp451	A	T	1: 33,808,974 (GRCm39)	D962E	probably damaging	Het
Zfp60	A	G	7: 27,437,830 (GRCm39)	T46A	probably damaging	Het
Zfy1	G	A	Y: 725,464 (GRCm39)	S767L	possibly damaging	Het

Other mutations in Dennd4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Dennd4c	APN	4	86,723,724 (GRCm39)	splice site	probably benign
IGL01810:Dennd4c	APN	4	86,717,788 (GRCm39)	missense	possibly damaging	0.94
IGL02203:Dennd4c	APN	4	86,721,173 (GRCm39)	missense	probably benign	0.00
IGL02217:Dennd4c	APN	4	86,732,036 (GRCm39)	missense	probably benign
IGL02236:Dennd4c	APN	4	86,725,672 (GRCm39)	missense	possibly damaging	0.68
IGL02256:Dennd4c	APN	4	86,717,778 (GRCm39)	missense	probably damaging	0.96
IGL02396:Dennd4c	APN	4	86,743,237 (GRCm39)	missense	probably damaging	1.00
IGL02523:Dennd4c	APN	4	86,692,490 (GRCm39)	unclassified	probably benign
IGL02615:Dennd4c	APN	4	86,739,704 (GRCm39)	missense	probably benign	0.00
IGL03069:Dennd4c	APN	4	86,692,674 (GRCm39)	nonsense	probably null
IGL03116:Dennd4c	APN	4	86,707,057 (GRCm39)	splice site	probably benign
IGL03117:Dennd4c	APN	4	86,696,140 (GRCm39)	missense	possibly damaging	0.95
IGL03273:Dennd4c	APN	4	86,696,033 (GRCm39)	missense	probably damaging	1.00
IGL03329:Dennd4c	APN	4	86,696,113 (GRCm39)	missense	probably damaging	1.00
IGL03365:Dennd4c	APN	4	86,725,663 (GRCm39)	critical splice acceptor site	probably null
PIT4486001:Dennd4c	UTSW	4	86,717,701 (GRCm39)	nonsense	probably null
R0010:Dennd4c	UTSW	4	86,699,814 (GRCm39)	missense	probably damaging	1.00
R0032:Dennd4c	UTSW	4	86,746,387 (GRCm39)	critical splice donor site	probably null
R0032:Dennd4c	UTSW	4	86,746,387 (GRCm39)	critical splice donor site	probably null
R0092:Dennd4c	UTSW	4	86,699,844 (GRCm39)	missense	probably damaging	1.00
R0103:Dennd4c	UTSW	4	86,730,683 (GRCm39)	missense	probably benign	0.07
R0103:Dennd4c	UTSW	4	86,730,683 (GRCm39)	missense	probably benign	0.07
R0511:Dennd4c	UTSW	4	86,744,259 (GRCm39)	missense	probably damaging	1.00
R0515:Dennd4c	UTSW	4	86,731,703 (GRCm39)	missense	possibly damaging	0.94
R0578:Dennd4c	UTSW	4	86,730,659 (GRCm39)	missense	probably damaging	1.00
R0759:Dennd4c	UTSW	4	86,707,066 (GRCm39)	missense	probably damaging	1.00
R0784:Dennd4c	UTSW	4	86,763,145 (GRCm39)	missense	probably benign	0.37
R1156:Dennd4c	UTSW	4	86,725,703 (GRCm39)	missense	probably damaging	1.00
R1370:Dennd4c	UTSW	4	86,729,747 (GRCm39)	missense	probably damaging	1.00
R1381:Dennd4c	UTSW	4	86,692,769 (GRCm39)	missense	probably benign	0.24
R1569:Dennd4c	UTSW	4	86,704,331 (GRCm39)	missense	possibly damaging	0.59
R1747:Dennd4c	UTSW	4	86,725,675 (GRCm39)	missense	probably damaging	1.00
R1764:Dennd4c	UTSW	4	86,721,247 (GRCm39)	missense	probably damaging	1.00
R1838:Dennd4c	UTSW	4	86,743,415 (GRCm39)	missense	probably benign	0.00
R1997:Dennd4c	UTSW	4	86,755,634 (GRCm39)	missense	probably benign
R2244:Dennd4c	UTSW	4	86,692,780 (GRCm39)	missense	probably damaging	1.00
R2348:Dennd4c	UTSW	4	86,729,764 (GRCm39)	missense	probably benign	0.04
R2968:Dennd4c	UTSW	4	86,699,881 (GRCm39)	missense	possibly damaging	0.93
R3033:Dennd4c	UTSW	4	86,743,557 (GRCm39)	small deletion	probably benign
R3401:Dennd4c	UTSW	4	86,692,780 (GRCm39)	missense	probably damaging	1.00
R3402:Dennd4c	UTSW	4	86,692,780 (GRCm39)	missense	probably damaging	1.00
R3403:Dennd4c	UTSW	4	86,692,780 (GRCm39)	missense	probably damaging	1.00
R3855:Dennd4c	UTSW	4	86,698,084 (GRCm39)	missense	probably damaging	1.00
R3939:Dennd4c	UTSW	4	86,692,517 (GRCm39)	missense	probably damaging	1.00
R4164:Dennd4c	UTSW	4	86,725,764 (GRCm39)	missense	probably benign	0.01
R4384:Dennd4c	UTSW	4	86,729,687 (GRCm39)	missense	probably damaging	1.00
R4435:Dennd4c	UTSW	4	86,716,312 (GRCm39)	missense	probably benign	0.44
R4788:Dennd4c	UTSW	4	86,738,200 (GRCm39)	missense	probably benign	0.00
R4801:Dennd4c	UTSW	4	86,738,121 (GRCm39)	nonsense	probably null
R4802:Dennd4c	UTSW	4	86,738,121 (GRCm39)	nonsense	probably null
R4818:Dennd4c	UTSW	4	86,743,511 (GRCm39)	missense	probably benign	0.00
R4923:Dennd4c	UTSW	4	86,725,775 (GRCm39)	missense	probably damaging	1.00
R4958:Dennd4c	UTSW	4	86,699,916 (GRCm39)	missense	probably damaging	1.00
R5025:Dennd4c	UTSW	4	86,713,536 (GRCm39)	critical splice donor site	probably null
R5434:Dennd4c	UTSW	4	86,729,693 (GRCm39)	missense	probably benign	0.10
R5662:Dennd4c	UTSW	4	86,713,525 (GRCm39)	missense	probably benign	0.13
R5802:Dennd4c	UTSW	4	86,729,690 (GRCm39)	missense	probably benign	0.02
R5849:Dennd4c	UTSW	4	86,744,223 (GRCm39)	missense	possibly damaging	0.58
R5861:Dennd4c	UTSW	4	86,709,589 (GRCm39)	missense	probably benign	0.30
R5970:Dennd4c	UTSW	4	86,743,749 (GRCm39)	missense	probably damaging	1.00
R6163:Dennd4c	UTSW	4	86,723,828 (GRCm39)	missense	possibly damaging	0.56
R6356:Dennd4c	UTSW	4	86,743,686 (GRCm39)	missense	probably benign
R6661:Dennd4c	UTSW	4	86,717,626 (GRCm39)	missense	possibly damaging	0.66
R6855:Dennd4c	UTSW	4	86,754,694 (GRCm39)	missense	probably benign
R6983:Dennd4c	UTSW	4	86,717,730 (GRCm39)	missense	probably damaging	1.00
R7035:Dennd4c	UTSW	4	86,730,574 (GRCm39)	missense	probably damaging	1.00
R7126:Dennd4c	UTSW	4	86,725,667 (GRCm39)	missense	probably damaging	1.00
R7212:Dennd4c	UTSW	4	86,721,228 (GRCm39)	missense	probably damaging	1.00
R7324:Dennd4c	UTSW	4	86,747,975 (GRCm39)	missense	unknown
R7329:Dennd4c	UTSW	4	86,698,111 (GRCm39)	missense	possibly damaging	0.81
R7329:Dennd4c	UTSW	4	86,759,318 (GRCm39)	missense	probably damaging	1.00
R7466:Dennd4c	UTSW	4	86,692,568 (GRCm39)	missense	probably damaging	0.99
R7479:Dennd4c	UTSW	4	86,717,590 (GRCm39)	missense	probably damaging	1.00
R7538:Dennd4c	UTSW	4	86,692,753 (GRCm39)	missense	probably damaging	1.00
R7599:Dennd4c	UTSW	4	86,729,849 (GRCm39)	missense	probably damaging	1.00
R7688:Dennd4c	UTSW	4	86,713,377 (GRCm39)	missense	probably damaging	1.00
R7725:Dennd4c	UTSW	4	86,704,330 (GRCm39)	missense	probably benign	0.00
R7751:Dennd4c	UTSW	4	86,747,179 (GRCm39)	missense	probably benign	0.05
R7790:Dennd4c	UTSW	4	86,717,754 (GRCm39)	missense	probably damaging	0.96
R8056:Dennd4c	UTSW	4	86,763,213 (GRCm39)	missense	probably null	0.71
R8307:Dennd4c	UTSW	4	86,744,109 (GRCm39)	missense	probably benign	0.12
R8494:Dennd4c	UTSW	4	86,759,312 (GRCm39)	missense	probably damaging	1.00
R8531:Dennd4c	UTSW	4	86,744,319 (GRCm39)	critical splice donor site	probably null
R9014:Dennd4c	UTSW	4	86,754,666 (GRCm39)	missense	probably benign	0.00
R9014:Dennd4c	UTSW	4	86,739,702 (GRCm39)	missense	probably benign	0.07
R9017:Dennd4c	UTSW	4	86,743,349 (GRCm39)	missense	probably benign	0.33
R9142:Dennd4c	UTSW	4	86,755,637 (GRCm39)	missense	probably benign	0.32
R9224:Dennd4c	UTSW	4	86,738,170 (GRCm39)	nonsense	probably null
R9570:Dennd4c	UTSW	4	86,747,208 (GRCm39)	missense	possibly damaging	0.71
R9644:Dennd4c	UTSW	4	86,713,363 (GRCm39)	missense	probably damaging	0.99
R9649:Dennd4c	UTSW	4	86,743,160 (GRCm39)	missense	probably benign	0.00
R9658:Dennd4c	UTSW	4	86,754,625 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTGGGCCAAAGTTCTTG -3'
(R):5'- CTGCAACAACAGTAAGAGCTG -3'

Sequencing Primer
(F):5'- CAAAGTTCTTGGAACCGTGTGACAC -3'
(R):5'- AAATATCTCAGTGCTTGTACTTGCC -3'

Posted On

2019-06-26