Mutagenetix > Incidental Mutation

Incidental Mutation 'R6341:Ccdc74a'

514418

Institutional Source

Beutler Lab

Gene Symbol

Ccdc74a

Ensembl Gene

ENSMUSG00000041617

Gene Name

coiled-coil domain containing 74A

Synonyms

2310015A05Rik

MMRRC Submission

044495-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R6341 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17464340-17468602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17465978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 105 (S105P)

Ref Sequence

ENSEMBL: ENSMUSP00000138657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006053] [ENSMUST00000012259] [ENSMUST00000056962] [ENSMUST00000080936] [ENSMUST00000090159] [ENSMUST00000163476] [ENSMUST00000165363] [ENSMUST00000182117] [ENSMUST00000182344] [ENSMUST00000182368] [ENSMUST00000232236] [ENSMUST00000232645]

AlphaFold

E9Q9U8

Predicted Effect

probably benign
Transcript: ENSMUST00000006053

SMART Domains

Protein: ENSMUSP00000006053
Gene: ENSMUSG00000005899

Domain	Start	End	E-Value	Type
Pfam:mit_SMPDase	8	768	N/A	PFAM
transmembrane domain	769	791	N/A	INTRINSIC
transmembrane domain	798	815	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000012259

SMART Domains

Protein: ENSMUSP00000012259
Gene: ENSMUSG00000012114

Domain	Start	End	E-Value	Type
Pfam:Med15	17	789	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000056962
AA Change: S118P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049541
Gene: ENSMUSG00000041617
AA Change: S118P

Domain	Start	End	E-Value	Type
low complexity region	12	34	N/A	INTRINSIC
Pfam:CCDC92	50	105	4.1e-24	PFAM
low complexity region	154	164	N/A	INTRINSIC
Pfam:CCDC74_C	209	326	1.4e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080936

SMART Domains

Protein: ENSMUSP00000079737
Gene: ENSMUSG00000012114

Domain	Start	End	E-Value	Type
Pfam:Med15	17	749	1.2e-276	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090159

SMART Domains

Protein: ENSMUSP00000087620
Gene: ENSMUSG00000005899

Domain	Start	End	E-Value	Type
Pfam:mit_SMPDase	8	288	7.4e-177	PFAM
Pfam:mit_SMPDase	287	752	9.4e-259	PFAM
transmembrane domain	753	775	N/A	INTRINSIC
transmembrane domain	782	799	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163476

SMART Domains

Protein: ENSMUSP00000131867
Gene: ENSMUSG00000005899

Domain	Start	End	E-Value	Type
Pfam:mit_SMPDase	8	289	6.2e-177	PFAM
Pfam:mit_SMPDase	285	739	9.8e-266	PFAM
transmembrane domain	740	762	N/A	INTRINSIC
transmembrane domain	769	786	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165363

SMART Domains

Protein: ENSMUSP00000130720
Gene: ENSMUSG00000005899

Domain	Start	End	E-Value	Type
Pfam:mit_SMPDase	8	289	6.2e-177	PFAM
Pfam:mit_SMPDase	285	738	4.1e-262	PFAM
transmembrane domain	739	761	N/A	INTRINSIC
transmembrane domain	768	785	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000182671
AA Change: S88P

Predicted Effect

probably damaging
Transcript: ENSMUST00000182117
AA Change: S105P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138657
Gene: ENSMUSG00000041617
AA Change: S105P

Domain	Start	End	E-Value	Type
low complexity region	1	21	N/A	INTRINSIC
Pfam:CCDC92	36	97	2e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182344
AA Change: S87P

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138131
Gene: ENSMUSG00000041617
AA Change: S87P

Domain	Start	End	E-Value	Type
Pfam:CCDC92	18	79	1.4e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182368
AA Change: S118P

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138262
Gene: ENSMUSG00000041617
AA Change: S118P

Domain	Start	End	E-Value	Type
low complexity region	12	34	N/A	INTRINSIC
Pfam:CCDC92	49	110	2.9e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182822

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183101

Predicted Effect

unknown
Transcript: ENSMUST00000183279
AA Change: S59P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170401

Predicted Effect

probably benign
Transcript: ENSMUST00000182976

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232417

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232012

Predicted Effect

probably benign
Transcript: ENSMUST00000232236

Predicted Effect

probably benign
Transcript: ENSMUST00000232645

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,924,364 (GRCm39)	D658G	possibly damaging	Het
Amz2	A	G	11: 109,319,653 (GRCm39)	H13R	probably benign	Het
Ankrd27	G	T	7: 35,326,828 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,840,270 (GRCm39)	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,494,573 (GRCm39)	M1602K	probably damaging	Het
Cdh26	T	A	2: 178,113,366 (GRCm39)		probably null	Het
Cxcl10	T	C	5: 92,496,072 (GRCm39)	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,700,933 (GRCm39)	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,115,551 (GRCm39)	D594E	probably benign	Het
Ddx5	T	C	11: 106,676,368 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,168,202 (GRCm39)	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,788,204 (GRCm39)		probably null	Het
Ecel1	A	G	1: 87,078,193 (GRCm39)		probably null	Het
Efcab6	T	G	15: 83,820,139 (GRCm39)	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,754,959 (GRCm39)	L464P	possibly damaging	Het
Fam234a	T	A	17: 26,432,667 (GRCm39)	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,065,127 (GRCm39)	V694A	probably damaging	Het
Gli2	T	C	1: 118,763,954 (GRCm39)	D1399G	probably damaging	Het
Gm10110	T	C	14: 90,134,144 (GRCm39)		noncoding transcript	Het
Hdac3	A	G	18: 38,077,217 (GRCm39)	L219P	probably damaging	Het
Hlcs	A	G	16: 94,032,022 (GRCm39)	F52S	probably damaging	Het
Ints7	C	A	1: 191,345,239 (GRCm39)	T643K	probably damaging	Het
Ireb2	A	G	9: 54,816,064 (GRCm39)	I878M	probably damaging	Het
Itga3	A	T	11: 94,946,677 (GRCm39)		probably null	Het
Lrfn5	T	A	12: 61,890,368 (GRCm39)	Y552*	probably null	Het
Mafb	T	C	2: 160,208,371 (GRCm39)	T76A	probably damaging	Het
Man2b1	A	T	8: 85,822,028 (GRCm39)	S748C	probably damaging	Het
Mmp15	G	T	8: 96,092,091 (GRCm39)		probably null	Het
Mmp17	A	T	5: 129,679,019 (GRCm39)	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,355,229 (GRCm39)	D1005V	probably damaging	Het
Myh3	T	C	11: 66,973,822 (GRCm39)	F165S	probably benign	Het
Nacc1	T	C	8: 85,401,420 (GRCm39)	D419G	probably benign	Het
Neb	G	A	2: 52,099,486 (GRCm39)	S4545L	probably damaging	Het
Niban3	C	T	8: 72,052,721 (GRCm39)	P65L	probably damaging	Het
Npas2	T	C	1: 39,339,768 (GRCm39)	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or5b12	T	C	19: 12,896,843 (GRCm39)	T277A	probably benign	Het
Pde4dip	T	A	3: 97,602,227 (GRCm39)	Q2283L	probably benign	Het
Phax	C	T	18: 56,706,173 (GRCm39)	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,152,829 (GRCm39)	K79*	probably null	Het
Pkd1	T	A	17: 24,799,201 (GRCm39)	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,190,572 (GRCm39)	R427C	probably damaging	Het
Ptprj	A	T	2: 90,288,693 (GRCm39)	F757L	probably benign	Het
Rad1	A	G	15: 10,492,907 (GRCm39)	D208G	probably damaging	Het
Rangrf	T	A	11: 68,863,538 (GRCm39)	N156I	probably benign	Het
Rasl11b	T	C	5: 74,359,037 (GRCm39)	S181P	probably damaging	Het
Rigi	T	A	4: 40,222,199 (GRCm39)		probably null	Het
Rlf	G	A	4: 121,006,557 (GRCm39)	Q808*	probably null	Het
Rogdi	G	T	16: 4,831,241 (GRCm39)		probably null	Het
Sec24a	A	T	11: 51,608,603 (GRCm39)	V573D	probably damaging	Het
Sorbs2	A	G	8: 46,223,615 (GRCm39)	T200A	probably damaging	Het
Srgap2	C	T	1: 131,219,367 (GRCm39)	R259H	probably benign	Het
Ssc5d	T	A	7: 4,939,664 (GRCm39)	V700E	probably benign	Het
Stt3a	A	T	9: 36,662,592 (GRCm39)	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,574,193 (GRCm39)	D6E	possibly damaging	Het
Tdrd12	C	T	7: 35,189,473 (GRCm39)	R421H	probably damaging	Het
Top3b	T	C	16: 16,696,935 (GRCm39)	M62T	probably damaging	Het
Trhr	T	G	15: 44,092,694 (GRCm39)	Y310*	probably null	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Usp34	A	G	11: 23,331,353 (GRCm39)	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,448,995 (GRCm39)	M290K	probably benign	Het
Wdr75	T	C	1: 45,841,291 (GRCm39)		probably null	Het
Wnk1	A	T	6: 119,925,546 (GRCm39)	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,741,001 (GRCm39)	T191A	probably benign	Het
Zc3h15	A	G	2: 83,491,567 (GRCm39)	E265G	probably benign	Het
Zcchc9	A	G	13: 91,948,816 (GRCm39)	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,738,337 (GRCm39)	H247R	probably damaging	Het
Zfp433	A	G	10: 81,555,957 (GRCm39)	E152G	probably damaging	Het
Zfp770	A	T	2: 114,027,240 (GRCm39)	S276R	probably benign	Het

Other mutations in Ccdc74a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Ccdc74a	APN	16	17,467,661 (GRCm39)	missense	possibly damaging	0.51
IGL01549:Ccdc74a	APN	16	17,468,406 (GRCm39)	missense	probably benign
IGL03144:Ccdc74a	APN	16	17,466,730 (GRCm39)	missense	possibly damaging	0.70
R0390:Ccdc74a	UTSW	16	17,468,340 (GRCm39)	missense	probably benign	0.32
R1756:Ccdc74a	UTSW	16	17,468,332 (GRCm39)	missense	possibly damaging	0.51
R2062:Ccdc74a	UTSW	16	17,467,890 (GRCm39)	missense	probably benign	0.00
R4697:Ccdc74a	UTSW	16	17,467,613 (GRCm39)	missense	possibly damaging	0.88
R4864:Ccdc74a	UTSW	16	17,466,736 (GRCm39)	missense	probably benign	0.00
R6074:Ccdc74a	UTSW	16	17,464,591 (GRCm39)	nonsense	probably null
R6404:Ccdc74a	UTSW	16	17,467,889 (GRCm39)	missense	possibly damaging	0.95
R7843:Ccdc74a	UTSW	16	17,464,613 (GRCm39)	missense
R7943:Ccdc74a	UTSW	16	17,468,416 (GRCm39)	missense	probably benign
R9175:Ccdc74a	UTSW	16	17,468,042 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGCTGGTTCCTTACACTTGAG -3'
(R):5'- GGCTTGGCTACTCACTCACTAC -3'

Sequencing Primer
(F):5'- ACTTGAGTGAGGGGTTTCTTACC -3'
(R):5'- TCATCTGGCTACACTGACAGC -3'

Posted On

2018-04-27