Mutagenetix > Incidental Mutation

Incidental Mutation 'R8307:Dennd4c'

641118

Institutional Source

Beutler Lab

Gene Symbol

Dennd4c

Ensembl Gene

ENSMUSG00000038024

Gene Name

DENN domain containing 4C

Synonyms

1700065A05Rik

MMRRC Submission

067717-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86666792-86768840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 86744109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 1317 (D1317A)

Ref Sequence

ENSEMBL: ENSMUSP00000123367 (fasta)

Gene Model

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

AlphaFold

A6H8H2

Predicted Effect

probably benign
Transcript: ENSMUST00000045512
AA Change: D1366A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000039860
Gene: ENSMUSG00000038024
AA Change: D1366A

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 benign
Transcript: ENSMUST00000082026
AA Change: D1366A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000080685
Gene: ENSMUSG00000038024
AA Change: D1366A

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 benign
Transcript: ENSMUST00000142837
AA Change: D1317A

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123367
Gene: ENSMUSG00000038024
AA Change: D1317A

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	C	A	4: 148,025,837 (GRCm39)	T119K	probably benign	Het
Abca13	T	A	11: 9,227,922 (GRCm39)	L655*	probably null	Het
Aifm2	A	G	10: 61,562,171 (GRCm39)	Y69C	probably damaging	Het
Atp2c1	C	T	9: 105,320,030 (GRCm39)	V448I	probably benign	Het
Barx2	A	G	9: 31,770,307 (GRCm39)	S74P	probably damaging	Het
Bod1l	T	C	5: 41,978,498 (GRCm39)	K939E	probably damaging	Het
Cdh12	C	A	15: 21,358,949 (GRCm39)	F124L	probably benign	Het
Cdh12	T	A	15: 21,358,950 (GRCm39)	Y125N	probably damaging	Het
Cdx2	A	G	5: 147,243,477 (GRCm39)	Y106H	possibly damaging	Het
Chmp1a	C	T	8: 123,932,980 (GRCm39)	G158S	probably damaging	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Cntnap1	A	T	11: 101,079,702 (GRCm39)	Y1277F	possibly damaging	Het
Csde1	A	G	3: 102,946,389 (GRCm39)		probably benign	Het
Dgcr2	C	T	16: 17,676,242 (GRCm39)	G176D	probably benign	Het
Dock2	A	T	11: 34,260,362 (GRCm39)	M993K	possibly damaging	Het
Dpy19l1	G	A	9: 24,414,297 (GRCm39)	P44S	probably benign	Het
Dsg2	C	T	18: 20,708,121 (GRCm39)	P74L	probably benign	Het
Epg5	T	A	18: 78,065,894 (GRCm39)	F2078Y	probably damaging	Het
Fancl	A	G	11: 26,349,642 (GRCm39)		probably benign	Het
Fbn1	C	A	2: 125,347,402 (GRCm39)	R41L	possibly damaging	Het
Gemin5	G	A	11: 58,042,420 (GRCm39)	T467M	probably damaging	Het
Hexb	T	C	13: 97,330,707 (GRCm39)	Q102R	probably benign	Het
Hmcn2	A	G	2: 31,286,127 (GRCm39)	D2093G	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Igkv1-131	A	G	6: 67,743,051 (GRCm39)	Y111H	probably damaging	Het
Il6st	G	T	13: 112,624,281 (GRCm39)	G177V	probably benign	Het
Kank4	G	A	4: 98,666,915 (GRCm39)	Q511*	probably null	Het
Krt90	A	G	15: 101,467,634 (GRCm39)	L248P	probably damaging	Het
Krtap5-2	A	G	7: 141,728,586 (GRCm39)	C187R	unknown	Het
Lonp1	C	A	17: 56,933,573 (GRCm39)	A101S	probably benign	Het
Nckap5l	A	G	15: 99,321,058 (GRCm39)	C1241R	probably damaging	Het
Or1j11	A	G	2: 36,312,333 (GRCm39)	T308A	probably benign	Het
Or4c11c	G	A	2: 88,661,633 (GRCm39)	M57I	possibly damaging	Het
Or6c203	T	C	10: 129,010,101 (GRCm39)	D263G	probably benign	Het
Pcdh15	T	A	10: 74,342,307 (GRCm39)	C1131*	probably null	Het
Pcdhgc3	A	G	18: 37,940,847 (GRCm39)	D416G	probably damaging	Het
Pikfyve	T	C	1: 65,284,894 (GRCm39)	M786T	possibly damaging	Het
Pink1	A	T	4: 138,045,273 (GRCm39)	M297K	probably benign	Het
Pln	T	C	10: 53,219,975 (GRCm39)	Y6H	unknown	Het
Ppp2r2c	A	G	5: 37,104,430 (GRCm39)	D270G	probably damaging	Het
Pramel58	T	G	5: 94,831,416 (GRCm39)	L141R	probably damaging	Het
Prcd	A	T	11: 116,550,199 (GRCm39)	T76S	possibly damaging	Het
Pxylp1	A	G	9: 96,721,137 (GRCm39)		probably null	Het
Rab11fip4	A	T	11: 79,581,600 (GRCm39)	N532Y	possibly damaging	Het
Ralgapa1	C	A	12: 55,788,308 (GRCm39)	V592L	probably damaging	Het
Robo2	T	C	16: 73,753,498 (GRCm39)	D793G	probably damaging	Het
Sec14l1	G	A	11: 117,034,242 (GRCm39)		probably null	Het
Srcap	T	A	7: 127,124,541 (GRCm39)	V237E	probably damaging	Het
Srl	A	G	16: 4,315,009 (GRCm39)	I211T	probably benign	Het
Tasor	G	T	14: 27,193,622 (GRCm39)	A941S	probably damaging	Het
Tet3	A	G	6: 83,356,909 (GRCm39)	V883A	probably damaging	Het
Trim46	A	G	3: 89,151,223 (GRCm39)	Y113H	probably benign	Het
Trim58	G	A	11: 58,537,909 (GRCm39)	A267T	probably benign	Het
Tsks	G	A	7: 44,607,086 (GRCm39)	G140S		Het
Vmn2r110	C	A	17: 20,803,319 (GRCm39)	V419L	probably benign	Het
Vmn2r66	A	G	7: 84,656,270 (GRCm39)	F249L	probably benign	Het
Vps8	A	C	16: 21,314,652 (GRCm39)	D584A	probably benign	Het
Zfp605	T	A	5: 110,276,063 (GRCm39)	C394S	probably damaging	Het
Zscan4e	A	G	7: 11,041,059 (GRCm39)	I271T	probably benign	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
R7185:Dennd4c	UTSW	4	86,729,687 (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	86,759,318 (GRCm39)	missense	probably damaging	1.00
R7329:Dennd4c	UTSW	4	86,698,111 (GRCm39)	missense	possibly damaging	0.81
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
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'- CCCACTAGGCAGTAAATCTTGTAG -3'
(R):5'- TAGGCAGATGCTACAGCCAC -3'

Sequencing Primer
(F):5'- ACTAGGCAGTAAATCTTGTAGTATGG -3'
(R):5'- GCCACCCACATCTTACTGG -3'

Posted On

2020-07-28